Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
Familial Cancer
Published in: Familial Cancer 1/2013

01-03-2013 | Review

10 rare tumors that warrant a genetics referral

Authors: Kimberly C. Banks, Jessica J. Moline, Monica L. Marvin, Anna C. Newlin, Kristen J. Vogel

Published in: Familial Cancer | Issue 1/2013

Login to get access

Abstract

The number of described cancer susceptibility syndromes continues to grow, as does our knowledge on how to manage these syndromes with the aim of early detection and cancer prevention. Oncologists now have greater responsibility to recognize patterns of cancer that warrant referral for a genetics consultation. While some patterns of common cancers are easy to recognize as related to hereditary cancer syndromes, there are a number of rare tumors that are highly associated with cancer syndromes yet are often overlooked given their infrequency. We present a review of ten rare tumors that are strongly associated with hereditary cancer predisposition syndromes: adrenocortical carcinoma, carcinoid tumors, diffuse gastric cancer, fallopian tube/primary peritoneal cancer, leiomyosarcoma, medullary thyroid cancer, paraganglioma/pheochromocytoma, renal cell carcinoma of chromophobe, hybrid oncocytoic, or oncocytoma histology, sebaceous carcinoma, and sex cord tumors with annular tubules. This review will serve as a guide for oncologists to assist in the recognition of rare tumors that warrant referral for a genetic consultation.
Literature
1.
Bilimoria KY, Shen WT, Elaraj D, Bentrem DJ, Winchester DJ, Kebebew E, Sturgeon C (2008) Adrenocortical carcinoma in the United States: treatment utilization and prognostic factors. Cancer 113(11):3130–3136PubMedCrossRef
2.
Wagner AS, Fleitz JM, Kleinschmidt-Demasters BK (2005) Pediatric adrenal cortical carcinoma: brain metastases and relationship to NF-1, case reports and review of the literature. J Neurooncol 75(2):127–133PubMedCrossRef
3.
Skogseid B, Rastad J, Gobl A, Larsson C, Backlin K, Juhlin C, Akerstrom G, Oberg K (1995) Adrenal lesion in multiple endocrine neoplasia type 1. Surgery 118(6):1077–1082PubMedCrossRef
4.
Seki M, Tanaka K, Kikuchi-Yanoshita R, Konishi M, Fukunari H, Iwama T, Miyaki M (1992) Loss of normal allele of the APC gene in an adrenocortical carcinoma from a patient with familial adenomatous polyposis. Hum Genet 89(3):298–300PubMedCrossRef
5.
Sorensen SA, Mulvihill JJ, Nielsen A (1986) Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms. N Engl J Med 314(16):1010–1015PubMedCrossRef
6.
Marshall WH, Martin FI, Mackay IR (1967) Gardner’s syndrome with adrenal carcinoma. Australas Ann Med 16(3):242–244PubMed
7.
Painter TA, Jagelman DG (1985) Adrenal adenomas and adrenal carcinomas in association with hereditary adenomatosis of the colon and rectum. Cancer 55(9):2001–2004PubMedCrossRef
8.
Traill Z, Tuson J, Woodham C (1995) Adrenal carcinoma in a patient with Gardner’s syndrome: imaging findings. AJR Am J Roentgenol 165(6):1460–1461PubMed
9.
Wakatsuki S, Sasano H, Matsui T, Nagashima K, Toyota T, Horii A (1998) Adrenocortical tumor in a patient with familial adenomatous polyposis: a case associated with a complete inactivating mutation of the APC gene and unusual histological features. Hum Pathol 29(3):302–306PubMedCrossRef
10.
Lustbader ED, Williams WR, Bondy ML, Strom S, Strong LC (1992) Segregation analysis of cancer in families of childhood soft-tissue-sarcoma patients. Am J Hum Genet 51(2):344–356PubMed
11.
Hwang SJ, Lozano G, Amos CI, Strong LC (2003) Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. Am J Hum Genet 72(4):975–983PubMedCrossRef
12.
Chompret A, Brugieres L, Ronsin M, Gardes M, Dessarps-Freichey F, Abel A, Hua D, Ligot L, Dondon MG, Bressac-de Paillerets B, Frebourg T, Lemerle J, Bonaiti-Pellie C, Feunteun J (2000) P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 82(12):1932–1937PubMedCrossRef
13.
Hisada M, Garber JE, Fung CY, Fraumeni JF Jr, Li FP (1998) Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst 90(8):606–611PubMedCrossRef
14.
Garber JE, Goldstein AM, Kantor AF, Dreyfus MG, Fraumeni JF Jr, Li FP (1991) Follow-up study of twenty-four families with Li-Fraumeni syndrome. Cancer Res 51(22):6094–6097PubMed
15.
Nichols KE, Malkin D, Garber JE, Fraumeni JF Jr, Li FP (2001) Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol Biomarkers Prev 10(2):83–87PubMed
16.
Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA (2003) Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63(20):6643–6650PubMed
17.
Li FP, Fraumeni JF Jr, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA, Miller RW (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res 48(18):5358–5362PubMed
18.
Brugieres L, Gardes M, Moutou C, Chompret A, Meresse V, Martin A, Poisson N, Flamant F, Bonaiti-Pellie C, Lemerle J et al (1993) Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer. Cancer Res 53(3):452–455PubMed
19.
Frebourg T, Barbier N, Yan YX, Garber JE, Dreyfus M, Fraumeni J Jr, Li FP, Friend SH (1995) Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. Am J Hum Genet 56(3):608–615PubMed
20.
Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, Harris M, Jones PH, Binchy A, Crowther D et al (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54(5):1298–1304PubMed
21.
Birch JM, Heighway J, Teare MD, Kelsey AM, Hartley AL, Tricker KJ, Crowther D, Lane DP, Santibanez-Koref MF (1994) Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53. Br J Cancer 70(6):1176–1181PubMedCrossRef
22.
Varley JM, McGown G, Thorncroft M, Santibanez-Koref MF, Kelsey AM, Tricker KJ, Evans DG, Birch JM (1997) Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. Cancer Res 57(15):3245–3252PubMed
23.
Chompret A, Abel A, Stoppa-Lyonnet D, Brugieres L, Pages S, Feunteun J, Bonaiti-Pellie C (2001) Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38(1):43–47PubMedCrossRef
24.
Gonzalez KD, Buzin CH, Noltner KA, Gu D, Li W, Malkin D, Sommer SS (2009) High frequency of de novo mutations in Li-Fraumeni syndrome. J Med Genet 46(10):689–693PubMedCrossRef
25.
Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, Han JH, Lowstuter K, Longmate J, Sommer SS, Weitzel JN (2009) Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol 27(8):1250–1256PubMedCrossRef
26.
Tinat J, Bougeard G, Baert-Desurmont S, Vasseur S, Martin C, Bouvignies E, Caron O, Bressac-de Paillerets B, Berthet P, Dugast C, Bonaiti-Pellie C, Stoppa-Lyonnet D, Frebourg T (2009) 2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol 27(26):e108–e109; author reply e110
27.
Villani A, Tabori U, Schiffman J, Shlien A, Beyene J, Druker H, Novokmet A, Finlay J, Malkin D (2011) Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol 12(6):559–567. doi:10.​1016/​S1470-2045(11)70119-X PubMedCrossRef
28.
Lapunzina P (2005) Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. Am J Med Genet C Semin Med Genet 137C(1):53–71PubMedCrossRef
29.
Cohen MM Jr (2005) Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 8(3):287–304PubMedCrossRef
30.
Martinez Y, Martinez R (1996) Clinical features in the Wiedemann-Beckwith syndrome. Clin Genet 50(4):272–274CrossRef
31.
32.
33.
Rodriguez-Bigas MA, Vasen HF, Lynch HT, Watson P, Myrhoj T, Jarvinen HJ, Mecklin JP, Macrae F, St John DJ, Bertario L, Fidalgo P, Madlensky L, Rozen P (1998) Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma. International Collaborative Group on HNPCC. Cancer 83(2):240–244PubMedCrossRef
34.
Marx S, Spiegel AM, Skarulis MC, Doppman JL, Collins FS, Liotta LA (1998) Multiple endocrine neoplasia type 1: clinical and genetic topics. Ann Intern Med 129(6):484–494PubMed
35.
Cappelli C, Agosti B, Braga M, Cumetti D, Gandossi E, Rizzoni D, Agabiti Rosei E (2004) Von Recklinghausen’s neurofibromatosis associated with duodenal somatostatinoma. A case report and review of the literature. Minerva Endocrinol 29(1):19–24PubMed
36.
Sachithanandan N, Harle RA, Burgess JR (2005) Bronchopulmonary carcinoid in multiple endocrine neoplasia type 1. Cancer 103(3):509–515PubMedCrossRef
37.
Teh BT, McArdle J, Chan SP, Menon J, Hartley L, Pullan P, Ho J, Khir A, Wilkinson S, Larsson C, Cameron D, Shepherd J (1997) Clinicopathologic studies of thymic carcinoids in multiple endocrine neoplasia type 1. Medicine (Baltimore) 76(1):21–29CrossRef
38.
Debelenko LV, Emmert-Buck MR, Zhuang Z, Epshteyn E, Moskaluk CA, Jensen RT, Liotta LA, Lubensky IA (1997) The multiple endocrine neoplasia type I gene locus is involved in the pathogenesis of type II gastric carcinoids. Gastroenterology 113(3):773–781PubMedCrossRef
39.
Bassett JH, Forbes SA, Pannett AA, Lloyd SE, Christie PT, Wooding C, Harding B, Besser GM, Edwards CR, Monson JP, Sampson J, Wass JA, Wheeler MH, Thakker RV (1998) Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet 62(2):232–244PubMedCrossRef
40.
Marx SJ (2001) Multiple endocrine neoplasia type 1. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 943–966
41.
Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr, Marx SJ (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86(12):5658–5671PubMedCrossRef
42.
Bordi C, Falchetti A, Azzoni C, D’Adda T, Canavese G, Guariglia A, Santini D, Tomassetti P, Brandi ML (1997) Aggressive forms of gastric neuroendocrine tumors in multiple endocrine neoplasia type I. Am J Surg Pathol 21(9):1075–1082PubMedCrossRef
43.
Jensen RT (1999) MEN-1 carcinoids: diagnosis and therapy. In: Proceedings of the 7th international workshop on multiple neoplasia, Gubbio, Italy
44.
45.
Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V, Chung DC, Norton J, Ragunath K, Van Krieken JH, Dwerryhouse S, Caldas C (2010) Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 47(7):436–444PubMedCrossRef
46.
Camphell F, Lauwers GY, Williams GT (2007) In: Fletcher CDM (ed) Diagnostic Histopathology of Tumors, vol 1, 3rd edn. Churchill Livingstone Elsevier, pp 327–378
47.
Crew KD, Neugut AI (2006) Epidemiology of gastric cancer. World J Gastroenterol 12(3):354–362PubMed
48.
Caldas C, Carneiro F, Lynch HT, Yokota J, Wiesner GL, Powell SM, Lewis FR, Huntsman DG, Pharoah PD, Jankowski JA, MacLeod P, Vogelsang H, Keller G, Park KG, Richards FM, Maher ER, Gayther SA, Oliveira C, Grehan N, Wight D, Seruca R, Roviello F, Ponder BA, Jackson CE (1999) Familial gastric cancer: overview and guidelines for management. J Med Genet 36(12):873–880PubMed
49.
Oliveira C, Bordin MC, Grehan N, Huntsman D, Suriano G, Machado JC, Kiviluoto T, Aaltonen L, Jackson CE, Seruca R, Caldas C (2002) Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. Hum Mutat 19(5):510–517PubMedCrossRef
50.
Park JG, Yang HK, Kim WH, Caldas C, Yokota J, Guilford PJ (2000) Report on the first meeting of the International Collaborative Group on Hereditary Gastric Cancer. J Natl Cancer Inst 92(21):1781–1782PubMedCrossRef
51.
Lynch HT, Grady W, Lynch JF, Tsuchiya KD, Wiesner G, Markowitz SD (2000) E-cadherin mutation-based genetic counseling and hereditary diffuse gastric carcinoma. Cancer Genet Cytogenet 122(1):1–6PubMedCrossRef
52.
Oliveira C, Seruca R, Carneiro F (2006) Genetics, pathology, and clinics of familial gastric cancer. Int J Surg Pathol 14(1):21–33PubMedCrossRef
53.
Kaurah P, MacMillan A, Boyd N, Senz J, De Luca A, Chun N, Suriano G, Zaor S, Van Manen L, Gilpin C, Nikkel S, Connolly-Wilson M, Weissman S, Rubinstein WS, Sebold C, Greenstein R, Stroop J, Yim D, Panzini B, McKinnon W, Greenblatt M, Wirtzfeld D, Fontaine D, Coit D, Yoon S, Chung D, Lauwers G, Pizzuti A, Vaccaro C, Redal MA, Oliveira C, Tischkowitz M, Olschwang S, Gallinger S, Lynch H, Green J, Ford J, Pharoah P, Fernandez B, Huntsman D (2007) Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 297(21):2360–2372PubMedCrossRef
54.
Oliveira C, Sousa S, Pinheiro H, Karam R, Bordeira-Carrico R, Senz J, Kaurah P, Carvalho J, Pereira R, Gusmao L, Wen X, Cipriano MA, Yokota J, Carneiro F, Huntsman D, Seruca R (2009) Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression. Gastroenterology 136(7):2137–2148PubMedCrossRef
55.
Pharoah PD, Guilford P, Caldas C (2001) Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 121(6):1348–1353PubMedCrossRef
56.
Chun YS, Lindor NM, Smyrk TC, Petersen BT, Burgart LJ, Guilford PJ, Donohue JH (2001) Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated? Cancer 92(1):181–187PubMedCrossRef
57.
Huntsman DG, Carneiro F, Lewis FR, MacLeod PM, Hayashi A, Monaghan KG, Maung R, Seruca R, Jackson CE, Caldas C (2001) Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. N Engl J Med 344(25):1904–1909PubMedCrossRef
58.
Suriano G, Yew S, Ferreira P, Senz J, Kaurah P, Ford JM, Longacre TA, Norton JA, Chun N, Young S, Oliveira MJ, Macgillivray B, Rao A, Sears D, Jackson CE, Boyd J, Yee C, Deters C, Pai GS, Hammond LS, McGivern BJ, Medgyesy D, Sartz D, Arun B, Oelschlager BK, Upton MP, Neufeld-Kaiser W, Silva OE, Donenberg TR, Kooby DA, Sharma S, Jonsson BA, Gronberg H, Gallinger S, Seruca R, Lynch H, Huntsman DG (2005) Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. Clin Cancer Res 11(15):5401–5409PubMedCrossRef
59.
Roffers SD, Wu XC, Johnson CH, Correa CN (2003) Incidence of extraovarian primary cancers in the United States, 1992–1997. Cancer 97(10 Suppl):2643–2647PubMedCrossRef
60.
Levine DA, Argenta PA, Yee CJ, Marshall DS, Olvera N, Bogomolniy F, Rahaman JA, Robson ME, Offit K, Barakat RR, Soslow RA, Boyd J (2003) Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol 21(22):4222–4227PubMedCrossRef
61.
Zweemer RP, van Diest PJ, Verheijen RH, Ryan A, Gille JJ, Sijmons RH, Jacobs IJ, Menko FH, Kenemans P (2000) Molecular evidence linking primary cancer of the fallopian tube to BRCA1 germline mutations. Gynecol Oncol 76(1):45–50PubMedCrossRef
62.
Sobol H, Jacquemier J, Bonaiti C, Dauplat J, Birnbaum D, Eisinger F (2000) Fallopian tube cancer as a feature of BRCA1-associated syndromes. Gynecol Oncol 78(2):263–264PubMedCrossRef
63.
Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72(5):1117–1130PubMedCrossRef
64.
Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25(11):1329–1333PubMedCrossRef
65.
Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE (1994) Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 343(8899):692–695PubMedCrossRef
66.
Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62(3):676–689PubMedCrossRef
67.
King MC, Marks JH, Mandell JB (2003) Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302(5645):643–646PubMedCrossRef
68.
69.
Finch A, Beiner M, Lubinski J, Lynch HT, Moller P, Rosen B, Murphy J, Ghadirian P, Friedman E, Foulkes WD, Kim-Sing C, Wagner T, Tung N, Couch F, Stoppa-Lyonnet D, Ainsworth P, Daly M, Pasini B, Gershoni-Baruch R, Eng C, Olopade OI, McLennan J, Karlan B, Weitzel J, Sun P, Narod SA (2006) Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA 296(2):185–192PubMedCrossRef
70.
Thompson D, Easton DF (2002) Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 94(18):1358–1365PubMedCrossRef
71.
Tai YC, Domchek S, Parmigiani G, Chen S (2007) Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 99(23):1811–1814PubMedCrossRef
72.
Cancer Linkage Consortium (1999) Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 91(15):1310–1316
73.
Menczer J, Chetrit A, Barda G, Lubin F, Fishler Y, Altaras M, Levavi H, Struewing JP, Sadetzki S, Modan B (2003) Frequency of BRCA mutations in primary peritoneal carcinoma in Israeli Jewish women. Gynecol Oncol 88(1):58–61PubMedCrossRef
74.
Aziz S, Kuperstein G, Rosen B, Cole D, Nedelcu R, McLaughlin J, Narod SA (2001) A genetic epidemiological study of carcinoma of the fallopian tube. Gynecol Oncol 80(3):341–345PubMedCrossRef
75.
Cass I, Holschneider C, Datta N, Barbuto D, Walts AE, Karlan BY (2005) BRCA-mutation-associated fallopian tube carcinoma: a distinct clinical phenotype? Obstet Gynecol 106(6):1327–1334PubMedCrossRef
76.
Lu K, Kauff N, Powell CB, Chen LM, Cass I, Lancaster J, Karlan B, Berchuck A, Mutch D (2009) ACOG Practice Bulletin No. 103: hereditary breast and ovarian cancer syndrome. Obstet Gynecol 113(4):957–966
77.
Powell CB, Kenley E, Chen LM, Crawford B, McLennan J, Zaloudek C, Komaromy M, Beattie M, Ziegler J (2005) Risk-reducing salpingo-oophorectomy in BRCA mutation carriers: role of serial sectioning in the detection of occult malignancy. J Clin Oncol 23(1):127–132PubMedCrossRef
78.
Rabban JT, Krasik E, Chen LM, Powell CB, Crawford B, Zaloudek CJ (2009) Multistep level sections to detect occult fallopian tube carcinoma in risk-reducing salpingo-oophorectomies from women with BRCA mutations: implications for defining an optimal specimen dissection protocol. Am J Surg Pathol 33(12):1878–1885PubMedCrossRef
79.
Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, Garber JE, Goorha S, Gruber SB, Hampel H, Kaklamani V, Kohlmann W, Kurian A, Litton J, Marcom PK, Nussbaum R, Offit K, Pal T, Pasche B, Pilarski R, Reiser G, Shannon KM, Smith JR, Swisher E, Weitzel JN (2010) Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw 8(5):562–594PubMed
80.
Toro JR, Travis LB, Wu HJ, Zhu K, Fletcher CD, Devesa SS (2006) Incidence patterns of soft tissue sarcomas, regardless of primary site, in the surveillance, epidemiology and end results program, 1978–2001: an analysis of 26,758 cases. Int J Cancer 119(12):2922–2930PubMedCrossRef
81.
Enzinger FM, Weiss SW (1995) Leiomyosarcoma. In: Gay SM (ed) Soft tissue tumors, 3rd edn. Mosby-Year Book, St. Louis, pp 491–510
82.
Blanco A, Grana B, Fachal L, Santamarina M, Cameselle-Teijeiro J, Ruiz-Ponte C, Carracedo A, Vega A (2010) Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN. Clin Genet 77(2):193–196PubMedCrossRef
83.
84.
Manoukian S, Peissel B, Pensotti V, Barile M, Cortesi L, Stacchiotti S, Terenziani M, Barbera F, Pasquini G, Frigerio S, Pierotti MA, Radice P, Della-Torre G (2007) Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families. Eur J Cancer 43(3):601–606PubMedCrossRef
85.
Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen LA (2001) Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci USA 98(6):3387–3392PubMedCrossRef
86.
Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N, Choyke P, Stratton P, Merino M, Walther MM, Linehan WM, Schmidt LS, Zbar B (2003) Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 73(1):95–106PubMedCrossRef
87.
Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M, MacDonald-Hull SP, Potts ED, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A, Mann RJ, Grice K, Guillet G, Lewis-Jones MS, McGrath H, Seukeran DC, Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S, Tomlinson IP (2003) Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 12(11):1241–1252PubMedCrossRef
88.
Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, Kelsell D, Leigh I, Olpin S, Tomlinson IP (2005) Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol 141(2):199–206PubMedCrossRef
89.
Lehtonen HJ, Kiuru M, Ylisaukko-Oja SK, Salovaara R, Herva R, Koivisto PA, Vierimaa O, Aittomaki K, Pukkala E, Launonen V, Aaltonen LA (2006) Increased risk of cancer in patients with fumarate hydratase germline mutation. J Med Genet 43(6):523–526PubMedCrossRef
90.
Stewart L, Glenn GM, Stratton P, Goldstein AM, Merino MJ, Tucker MA, Linehan WM, Toro JR (2008) Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. Arch Dermatol 144(12):1584–1592PubMedCrossRef
91.
Schneider K (2011) Counseling about cancer: strategies for Genetic Counseling, 3rd edn
92.
Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon ME, van Spaendonck KY, Aalfs CM, Post JG, Shanley S, Krapels IP, Hoefsloot LH, van Moorselaar RJ, Starink TM, Bayley JP, Frank J, van Steensel MA, Menko FH (2010) Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genet 79(1):49–59CrossRef
93.
Refae MA, Wong N, Patenaude F, Begin LR, Foulkes WD (2007) Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. Nat Clin Pract 4(4):256–261CrossRef
94.
Lynch HT, Smyrk T (1996) Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer 78(6):1149–1167PubMedCrossRef
95.
Vasen HF, Wijnen JT, Menko FH, Kleibeuker JH, Taal BG, Griffioen G, Nagengast FM, Meijers-Heijboer EH, Bertario L, Varesco L, Bisgaard ML, Mohr J, Fodde R, Khan PM (1996) Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 110(4):1020–1027PubMedCrossRef
96.
Lin KM, Shashidharan M, Thorson AG, Ternent CA, Blatchford GJ, Christensen MA, Watson P, Lemon SJ, Franklin B, Karr B, Lynch J, Lynch HT (1998) Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer. J Gastrointest Surg 2(1):67–71PubMedCrossRef
97.
Peltomaki P (2003) Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol 21(6):1174–1179PubMedCrossRef
98.
Kovacs ME, Papp J, Szentirmay Z, Otto S, Olah E (2009) Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat 30(2):197–203. doi:10.​1002/​humu.​20942 PubMedCrossRef
99.
Medina Arana V, Barrios del Pino Y, Garcia-Castro C, Gonzalez-Aguilera JJ, Fernandez-Peralta A, Gonzalez Hermoso F (2002) Highly aggressive leiomyosarcoma associated with Lynch II syndrome: increasing the range of extracolonic cancers related with hereditary non-polyposis colonic cancer. Ann Oncol 13(5):807–808PubMedCrossRef
100.
Nilbert M, Therkildsen C, Nissen A, Akerman M, Bernstein I (2009) Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum. Fam Cancer 8(3):209–213PubMedCrossRef
101.
Kruse R, Rutten A, Lamberti C, Hosseiny-Malayeri HR, Wang Y, Ruelfs C, Jungck M, Mathiak M, Ruzicka T, Hartschuh W, Bisceglia M, Friedl W, Propping P (1998) Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. Am J Hum Genet 63(1):63–70PubMedCrossRef
102.
Venkatraman L, Goepel JR, Steele K, Dobbs SP, Lyness RW, McCluggage WG (2003) Soft tissue, pelvic, and urinary bladder leiomyosarcoma as second neoplasm following hereditary retinoblastoma. J Clin Pathol 56(3):233–236PubMedCrossRef
103.
Kleinerman RA, Tucker MA, Abramson DH, Seddon JM, Tarone RE, Fraumeni JF Jr (2007) Risk of soft tissue sarcomas by individual subtype in survivors of hereditary retinoblastoma. J Natl Cancer Inst 99(1):24–31PubMedCrossRef
104.
Brucker B, Ernst L, Meadows A, Zderic S (2006) A second leiomyosarcoma in the urinary bladder of a child with a history of retinoblastoma 12 years following partial cystectomy. Pediatr Blood Cancer 46(7):811–814PubMedCrossRef
105.
Moley JF (1997) Medullary thyroid carcinoma. In: Clark OH, Duh QY (eds) Textbook of endocrine surgery. W.B. Saunders, Philadelphia, pp 108–118
106.
Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, Gharib H, Moley JF, Pacini F, Ringel MD, Schlumberger M, Wells SA Jr (2009) Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 19(6):565–612PubMedCrossRef
107.
Morrison PJ, Nevin NC (1996) Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). J Med Genet 33(9):779–782PubMedCrossRef
108.
Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, van Amstel HK, Lips CJ, Nishisho I, Takai SI, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjold M, Komminoth P, Hendy GN, Mulligan LM et al (1996) The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 276(19):1575–1579PubMedCrossRef
109.
Elisei R, Romei C, Cosci B, Agate L, Bottici V, Molinaro E, Sculli M, Miccoli P, Basolo F, Grasso L, Pacini F, Pinchera A (2007) RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center. J Clin Endocrinol Metab 92(12):4725–4729PubMedCrossRef
110.
Cohen MS, Moley JF (2003) Surgical treatment of medullary thyroid carcinoma. J Intern Med 253(6):616–626PubMedCrossRef
111.
Kimura N, Chetty R, Capella C, Young WF Jr, Koch CA, Lam KY, DeLellis RA, Kawashima A, Komminoth P, Tischler AS (2004) Pathology and genetics: tumours of the endocrine organs. In: DeLellis RA, Lloyd RV, Heitz PU, Eng C (eds) World Health Organization classification of tumours. Oxford University Press, Oxford, p 159
112.
Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG (2006) Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 91(3):827–836PubMedCrossRef
113.
Erlic Z, Neumann HP (2009) When should genetic testing be obtained in a patient with phaeochromocytoma or paraganglioma? Clin Endocrinol (Oxf) 70(3):354–357CrossRef
114.
Bayley JP, Kunst HP, Cascon A, Sampietro ML, Gaal J, Korpershoek E, Hinojar-Gutierrez A, Timmers HJ, Hoefsloot LH, Hermsen MA, Suarez C, Hussain AK, Vriends AH, Hes FJ, Jansen JC, Tops CM, Corssmit EP, de Knijff P, Lenders JW, Cremers CW, Devilee P, Dinjens WN, de Krijger RR, Robledo M (2010) SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol 11(4):366–372PubMedCrossRef
115.
Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL (2010) Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet 42(3):229–233PubMedCrossRef
116.
Burnichon N, Briere JJ, Libe R, Vescovo L, Riviere J, Tissier F, Jouanno E, Jeunemaitre X, Benit P, Tzagoloff A, Rustin P, Bertherat J, Favier J, Gimenez-Roqueplo AP (2010) SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 19(15):3011–3020. doi:10.​1093/​hmg/​ddq206 PubMedCrossRef
117.
Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F, Landa I, Leandro-Garcia LJ, Leton R, Honrado E, Ramos-Medina R, Caronia D, Pita G, Gomez-Grana A, de Cubas AA, Inglada-Perez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernandez-Lavado R, Diaz JA, Gomez-Morales M, Gonzalez-Neira A, Roncador G, Rodriguez-Antona C, Benitez J, Mannelli M, Opocher G, Robledo M, Cascon A (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 43(7):663–667. doi:10.​1038/​ng.​861 PubMedCrossRef
118.
Rodriguez JM, Balsalobre M, Ponce JL, Rios A, Torregrosa NM, Tebar J, Parrilla P (2008) Pheochromocytoma in MEN 2A syndrome. Study of 54 patients. World J Surg 32(11):2520–2526PubMedCrossRef
119.
Inabnet WB, Caragliano P, Pertsemlidis D (2000) Pheochromocytoma: inherited associations, bilaterality, and cortex preservation. Surgery 128(6):1007–1011;discussion 1011–1002
120.
Pacak K, Ilias I, Adams KT, Eisenhofer G (2005) Biochemical diagnosis, localization and management of pheochromocytoma: focus on multiple endocrine neoplasia type 2 in relation to other hereditary syndromes and sporadic forms of the tumour. J Intern Med 257(1):60–68PubMedCrossRef
121.
Pomares FJ, Canas R, Rodriguez JM, Hernandez AM, Parrilla P, Tebar FJ (1998) Differences between sporadic and multiple endocrine neoplasia type 2A phaeochromocytoma. Clin Endocrinol (Oxf) 48(2):195–200CrossRef
122.
Neumann HP, Eng C (2009) The approach to the patient with paraganglioma. J Clin Endocrinol Metab 94(8):2677–2683PubMedCrossRef
123.
Maher ER, Webster AR, Richards FM, Green JS, Crossey PA, Payne SJ, Moore AT (1996) Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. J Med Genet 33(4):328–332PubMedCrossRef
124.
Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, Kunst H, Devilee P, Cremers CW, Schiffman JD, Bentz BG, Gygi SP, Winge DR, Kremer H, Rutter J (2009) SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 325(5944):1139–1142PubMedCrossRef
125.
Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C (2004) Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292(8):943–951PubMedCrossRef
126.
Schiavi F, Boedeker CC, Bausch B, Peczkowska M, Gomez CF, Strassburg T, Pawlu C, Buchta M, Salzmann M, Hoffmann MM, Berlis A, Brink I, Cybulla M, Muresan M, Walter MA, Forrer F, Valimaki M, Kawecki A, Szutkowski Z, Schipper J, Walz MK, Pigny P, Bauters C, Willet-Brozick JE, Baysal BE, Januszewicz A, Eng C, Opocher G, Neumann HP (2005) Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA 294(16):2057–2063PubMedCrossRef
127.
Pasini B, McWhinney SR, Bei T, Matyakhina L, Stergiopoulos S, Muchow M, Boikos SA, Ferrando B, Pacak K, Assie G, Baudin E, Chompret A, Ellison JW, Briere JJ, Rustin P, Gimenez-Roqueplo AP, Eng C, Carney JA, Stratakis CA (2008) Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet 16(1):79–88PubMedCrossRef
128.
Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peczkowska M, Morrison CD, Lehtonen R, Januszewicz A, Jarvinen H, Juhola M, Mecklin JP, Pukkala E, Herva R, Kiuru M, Nupponen NN, Aaltonen LA, Neumann HP, Eng C (2004) Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet 74(1):153–159PubMedCrossRef
129.
Ricketts C, Woodward ER, Killick P, Morris MR, Astuti D, Latif F, Maher ER (2008) Germline SDHB mutations and familial renal cell carcinoma. J Natl Cancer Inst 100(17):1260–1262PubMedCrossRef
130.
Boedeker CC, Neumann HP, Offergeld C, Maier W, Falcioni M, Berlis A, Schipper J (2009) Clinical features of paraganglioma syndromes. Skull Base 19(1):17–25PubMedCrossRef
131.
Bausch B, Borozdin W, Mautner VF, Hoffmann MM, Boehm D, Robledo M, Cascon A, Harenberg T, Schiavi F, Pawlu C, Peczkowska M, Letizia C, Calvieri S, Arnaldi G, Klingenberg-Noftz RD, Reisch N, Fassina A, Brunaud L, Walter MA, Mannelli M, MacGregor G, Palazzo FF, Barontini M, Walz MK, Kremens B, Brabant G, Pfaffle R, Koschker AC, Lohoefner F, Mohaupt M, Gimm O, Jarzab B, McWhinney SR, Opocher G, Januszewicz A, Kohlhase J, Eng C, Neumann HP (2007) Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. J Clin Endocrinol Metab 92(7):2784–2792PubMedCrossRef
132.
(1988) National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13–15, 1987. Neurofibromatosis 1(3):172–178
133.
Erlic Z, Rybicki L, Peczkowska M, Golcher H, Kann PH, Brauckhoff M, Mussig K, Muresan M, Schaffler A, Reisch N, Schott M, Fassnacht M, Opocher G, Klose S, Fottner C, Forrer F, Plockinger U, Petersenn S, Zabolotny D, Kollukch O, Yaremchuk S, Januszewicz A, Walz MK, Eng C, Neumann HP (2009) Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clin Cancer Res 15(20):6378–6385PubMedCrossRef
134.
Neumann HP, Sullivan M, Winter A, Malinoc A, Hoffmann MM, Boedeker CC, Bertz H, Walz MK, Moeller LC, Schmid KW, Eng C (2011) Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. J Clin Endocrinol Metab 96(8):E1279–E1282PubMedCrossRef
135.
Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Perez L, King EE, Toledo RA, Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacche M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, Vikkula M, Grossman AB, Gruber SB, Barontini M, Persu A, Castellano M, Toledo SP, Maher ER, Mannelli M, Opocher G, Robledo M, Dahia PL (2010) Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA 304(23):2611–2619PubMedCrossRef
136.
Neumann HP, Sullivan M, Winter A, Malinoc A, Hoffmann MM, Boedeker CC, Bertz H, Walz MK, Moeller LC, Schmid KW, Eng C (2011) Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. J Clin Endocrinol Metabol 96(8):E1279–E1282. doi:10.​1210/​jc.​2011-0114 CrossRef
137.
Burnichon N, Cascon A, Schiavi F, Morales NP, Comino-Mendez I, Abermil N, Inglada-Perez L, de Cubas AA, Amar L, Barontini M, de Quiros SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD, Corssmit EP, Giacche M, de Krijger RR, Ercolino T, Girerd X, Gomez-Garcia EB, Gomez-Grana A, Guilhem I, Hes FJ, Honrado E, Korpershoek E, Lenders JW, Leton R, Mensenkamp AR, Merlo A, Mori L, Murat A, Pierre P, Plouin PF, Prodanov T, Quesada-Charneco M, Qin N, Rapizzi E, Raymond V, Reisch N, Roncador G, Ruiz-Ferrer M, Schillo F, Stegmann AP, Suarez C, Taschin E, Timmers HJ, Tops CM, Urioste M, Beuschlein F, Pacak K, Mannelli M, Dahia PL, Opocher G, Eisenhofer G, Gimenez-Roqueplo AP, Robledo M (2012) MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res 18(10):2828–2837. doi:10.​1158/​1078-0432.​CCR-12-0160 PubMedCrossRef
138.
Hong SB, Oh H, Valera VA, Stull J, Ngo DT, Baba M, Merino MJ, Linehan WM, Schmidt LS (2010) Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling. Mol Cancer 9:160PubMedCrossRef
139.
Hudon V, Sabourin S, Dydensborg AB, Kottis V, Ghazi A, Paquet M, Crosby K, Pomerleau V, Uetani N, Pause A (2010) Renal tumour suppressor function of the Birt-Hogg-Dube syndrome gene product folliculin. J Med Genet 47(3):182–189PubMedCrossRef
140.
Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA, Steinberg SM, Schmidt LS, Linehan WM (2008) BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports. J Med Genet 45(6):321–331PubMedCrossRef
141.
Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM (2005) Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. Am J Hum Genet 76(6):1023–1033PubMedCrossRef
142.
Pavlovich CP, Grubb RL 3rd, Hurley K, Glenn GM, Toro J, Schmidt LS, Torres-Cabala C, Merino MJ, Zbar B, Choyke P, Walther MM, Linehan WM (2005) Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome. J Urol 173(5):1482–1486PubMedCrossRef
143.
Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjold M, Hansen TV, Solly J, Maher ER (2009) Birt-Hogg-Dube syndrome: diagnosis and management. Lancet Oncol 10(12):1199–1206PubMedCrossRef
144.
Boris RS, Benhammou J, Merino M, Pinto PA, Linehan WM, Bratslavsky G (2011) The impact of germline BHD mutation on histological concordance and clinical treatment of patients with bilateral renal masses and known unilateral oncocytoma. J Urol 185(6):2050–2055PubMedCrossRef
145.
Rutten A, Burgdorf W, Hugel H, Kutzner H, Hosseiny-Malayeri HR, Friedl W, Propping P, Kruse R (1999) Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome: a histopathologic and molecular genetic study. Am J Dermatopathol 21(5):405–413PubMedCrossRef
146.
147.
Umar A (2004) Lynch syndrome (HNPCC) and microsatellite instability. Dis Markers 20(4–5):179–180PubMed
148.
Bocker T, Ruschoff J, Fishel R (1999) Molecular diagnostics of cancer predisposition: hereditary non-polyposis colorectal carcinoma and mismatch repair defects. Biochim Biophys Acta 1423(3):O1–O10PubMed
149.
Entius MM, Keller JJ, Drillenburg P, Kuypers KC, Giardiello FM, Offerhaus GJ (2000) Microsatellite instability and expression of hMLH-1 and hMSH-2 in sebaceous gland carcinomas as markers for Muir-Torre syndrome. Clin Cancer Res 6(5):1784–1789PubMed
150.
Machin P, Catasus L, Pons C, Munoz J, Conde-Zurita JM, Balmana J, Barnadas M, Marti RM, Prat J, Matias-Guiu X (2002) Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir-Torre syndrome. J Cutan Pathol 29(7):415–420PubMedCrossRef
151.
Ponti G, Losi L, Di Gregorio C, Roncucci L, Pedroni M, Scarselli A, Benatti P, Seidenari S, Pellacani G, Lembo L, Rossi G, Marino M, Lucci-Cordisco E, Ponz de Leon M (2005) Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry. Cancer 103(5):1018–1025PubMedCrossRef
152.
Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, Peltomaki P, Mecklin JP, Jarvinen HJ (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81(2):214–218PubMedCrossRef
153.
Ponti G, Losi L, Pedroni M, Lucci-Cordisco E, Di Gregorio C, Pellacani G, Seidenari S (2006) Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. J Invest Dermatol 126(10):2302–2307PubMedCrossRef
154.
South CD, Hampel H, Comeras I, Westman JA, Frankel WL, de la Chapelle A (2008) The frequency of Muir-Torre syndrome among Lynch syndrome families. J Natl Cancer Inst 100(4):277–281PubMedCrossRef
155.
Schwartz RA, Torre DP (1995) The Muir-Torre syndrome: a 25-year retrospect. J Am Acad Dermatol 33(1):90–104PubMedCrossRef
156.
Chhibber V, Dresser K, Mahalingam M (2008) MSH-6: extending the reliability of immunohistochemistry as a screening tool in Muir-Torre syndrome. Mod Pathol 21(2):159–164PubMed
157.
Kruse R, Rutten A, Schweiger N, Jakob E, Mathiak M, Propping P, Mangold E, Bisceglia M, Ruzicka T (2003) Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias. J Invest Dermatol 120(5):858–864PubMedCrossRef
158.
Cesinaro AM, Ubiali A, Sighinolfi P, Trentini GP, Gentili F, Facchetti F (2007) Mismatch repair proteins expression and microsatellite instability in skin lesions with sebaceous differentiation: a study in different clinical subgroups with and without extracutaneous cancer. Am J Dermatopathol 29(4):351–358PubMedCrossRef
159.
Orta L, Klimstra DS, Qin J, Mecca P, Tang LH, Busam KJ, Shia J (2009) Towards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient’s age or other clinical characteristics. Am J Surg Pathol 33(6):934–944PubMedCrossRef
160.
Jarvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomaki P, De La Chapelle A, Mecklin JP (2000) Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 118(5):829–834PubMedCrossRef
161.
Kruse R, Ruzicka T (2004) DNA mismatch repair and the significance of a sebaceous skin tumor for visceral cancer prevention. Trends Mol Med 10(3):136–141PubMedCrossRef
162.
Lynch HT, Fusaro RM, Lynch PM (2006) Sebaceous skin lesions as clues to hereditary non-polyposis colorectal cancer. J Invest Dermatol 126(10):2158–2159PubMedCrossRef
163.
Schneider DT, Janig U, Calaminus G, Gobel U, Harms D (2003) Ovarian sex cord-stromal tumors–a clinicopathological study of 72 cases from the Kiel Pediatric Tumor Registry. Virchows Arch 443(4):549–560PubMedCrossRef
164.
Scully RE (1970) Sex cord tumor with annular tubules a distinctive ovarian tumor of the Peutz-Jeghers syndrome. Cancer 25(5):1107–1121PubMedCrossRef
165.
Jeghers H, Mc KV, Katz KH (1949) Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. N Engl J Med 241(26):1031–1036PubMedCrossRef
166.
167.
Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, Krush AJ, Yardley JH, Luk GD (1987) Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 316(24):1511–1514PubMedCrossRef
168.
Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, Cruz-Correa M, Offerhaus JA (2000) Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 119(6):1447–1453PubMedCrossRef
169.
Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart LJ, Ahlquist DA, Podratz KC, Pittelkow M, Hartmann LC (1998) Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 128(11):896–899PubMed
170.
Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, Keller JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello FM, Gruber SB, Offerhaus GJ, de Rooij FW, Wilson JH, Hansmann A, Moslein G, Royer-Pokora B, Vogel T, Phillips RK, Spigelman AD, Houlston RS (2006) Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 12(10):3209–3215PubMedCrossRef
171.
Mehenni H, Resta N, Park JG, Miyaki M, Guanti G, Costanza MC (2006) Cancer risks in LKB1 germline mutation carriers. Gut 55(7):984–990PubMedCrossRef
172.
Lim W, Olschwang S, Keller JJ, Westerman AM, Menko FH, Boardman LA, Scott RJ, Trimbath J, Giardiello FM, Gruber SB, Gille JJ, Offerhaus GJ, de Rooij FW, Wilson JH, Spigelman AD, Phillips RK, Houlston RS (2004) Relative frequency and morphology of cancers in STK11 mutation carriers. Gastroenterology 126(7):1788–1794PubMedCrossRef
173.
Giardiello FM, Trimbath JD (2006) Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 4(4):408–415PubMedCrossRef
174.
van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol 105(6):1258–1264; author reply 1265
175.
Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R, Muller O, Back W, Zimmer M (1998) Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 18(1):38–43PubMedCrossRef
176.
Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Hoglund P, Jarvinen H, Kristo P, Pelin K, Ridanpaa M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA (1998) A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391(6663):184–187PubMedCrossRef
177.
Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius MM, Loff S, Back W, Kaufmann A, Keller KM, Blaas SH, Siebert R, Vogt S, Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl W (2007) High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet 44(11):702–709PubMedCrossRef
178.
Young RH, Welch WR, Dickersin GR, Scully RE (1982) Ovarian sex cord tumor with annular tubules: review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervix. Cancer 50(7):1384–1402PubMedCrossRef
179.
(2003) American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 21(12):2397–2406
180.
(2011) American College of Surgeons: commission on cancer. Cancer program standards 2012: ensuring patient-centered care, vol V1.0
Metadata
Title
10 rare tumors that warrant a genetics referral
Authors
Kimberly C. Banks
Jessica J. Moline
Monica L. Marvin
Anna C. Newlin
Kristen J. Vogel
Publication date
01-03-2013
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 1/2013
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-012-9584-9

Other articles of this Issue 1/2013

Familial Cancer 1/2013 Go to the issue

Original Article

Prospective enteroscopic evaluation of jejunal polyposis in patients with familial adenomatous polyposis and advanced duodenal polyposis

Original Article

A novel missense mutation (N78D) in a family with von Hippel–Lindau disease with central nervous system haemangioblastomas, pancreatic and renal cysts

Original Article

An unusual BRCA mutation distribution in a high risk cancer genetics clinic

Original Article

Multiple small “imaging” branch-duct type intraductal papillary mucinous neoplasms (IPMNs) in familial pancreatic cancer: indicator for concomitant high grade pancreatic intraepithelial neoplasia?

Original Article

Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review

Short Communication

The deletion of exons 3–5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine
Image Credits