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Familial Cancer
Published in: Familial Cancer 3/2010

01-09-2010

High risk for neoplastic transformation of endometriosis in a carrier of lynch syndrome

Authors: Christine Nyiraneza, Etienne Marbaix, Mireille Smets, Christine Galant, Christine Sempoux, Karin Dahan

Published in: Familial Cancer | Issue 3/2010

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Abstract

Lynch syndrome is an autosomal dominant cancer-susceptibility disorder caused by mutations in DNA mismatch repair genes. Women with Lynch syndrome have an increased lifetime risk for endometrial and ovarian cancers. While there is evidence of efficacy for prophylactic surgery, no standard recommendations have been developed to support screening for premalignant endometrial and ovarian epithelial lesions in high-risk women. Here, we report a case of a healthy woman carrying a germline mutation in MLH1 gene with endometrial intra-epithelial neoplasia and ovarian endometriotic lesions exhibiting a loss of MLH1 protein expression. This case report illustrates the malignant potential of endometriosis, and highlights the need for a meticulous management of gynecologic premalignant precursor lesions in reducing cancer risk among related Lynch syndrome women.
Literature
1.
2.
Schmeler KM, Lynch HT, Chen LM et al (2006) Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 354:261–269CrossRefPubMed
3.
Seiden MV, Patel D, O’Neill MJ, Oliva E (2007) Case records of the Massachusetts General Hospital. Case 13–2007. A 46-year-old woman with gynecologic and intestinal cancers. N Engl J Med 356:1760–1769CrossRefPubMed
4.
Boland CR, Thibodeau SN, Hamilton SR et al (1998) A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58:5248–5257PubMed
5.
Wang Q, Desseigne F, Lasset C et al (1997) Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families. Int J Cancer 73:831–836CrossRefPubMed
6.
Lindor NM, Petersen GM, Hadley DW et al (2006) Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 296:1507–1517CrossRefPubMed
7.
Mutter GL, Baak JP, Crum CP, Richart RM, Ferenczy A, Faquin WC (2000) Endometrial precancer diagnosis by histopathology, clonal analysis, and computerized morphometry. J Pathol 190:462–469CrossRefPubMed
8.
Esteller M, Catasus L, Matias-Guiu X et al (1999) hMLH1 promoter hypermethylation is an early event in human endometrial tumorigenesis. Am J Pathol 155:1767–1772PubMed
9.
Simpkins SB, Bocker T, Swisher EM et al (1999) MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers. Hum Mol Genet 8:661–666CrossRefPubMed
10.
11.
Kinzler KW, Vogelstein B (1997) Cancer-susceptibility genes. Gatekeepers and caretakers. Nature 386:761–763CrossRefPubMed
12.
Rahner N, Friedrichs N, Steinke V et al (2008) Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome. J Pathol 214:10–16CrossRefPubMed
13.
Ollikainen M, Hannelius U, Lindgren CM et al (2007) Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach. Oncogene 26:4541–4549CrossRefPubMed
14.
Hemminki K, Aaltonen L, Li X (2003) Subsequent primary malignancies after endometrial carcinoma and ovarian carcinoma. Cancer 97:2432–2439CrossRefPubMed
15.
Lynch HT, de la Chapelle A (1999) Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 36:801–818PubMed
16.
Watson P, Bützow R, Lynch HT et al (2001) The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 82:223–228CrossRefPubMed
17.
Varma R, Rollason T, Gupta JK, Maher ER (2004) Endometriosis and the neoplastic process. Reproduction 127:293–304CrossRefPubMed
18.
Martini M, Ciccarone M, Garganese G et al (2002) Possible involvement of hMLH1, p16(INK4a) and PTEN in the malignant transformation of endometriosis. Int J Cancer 102:398–406CrossRefPubMed
19.
Prowse AH, Manek S, Varma R et al (2006) Molecular genetic evidence that endometriosis is a precursor of ovarian cancer. Int J Cancer 119:556–562CrossRefPubMed
20.
Nezhat F, Datta MS, Hanson V et al (2008) The relationship of endometriosis and ovarian malignancy: a review. Fertil Steril 90:1559–1570CrossRefPubMed
21.
Ballweg ML (2004) Impact of endometriosis on women’s health: comparative historical data show that the earlier the onset, the more severe the disease. Best Pract Res Clin Obstet Gynaecol 18:201–218CrossRefPubMed
22.
Matsuo K, Alonsozana EL, Eno ML, Rosenshein NB, Im DD (2009) Primary peritoneal clear cell adenocarcinoma arising in previous abdominal scar for endometriosis surgery. Arch Gynecol Obstet 280:637–641CrossRefPubMed
23.
Dove-Edwin I, Boks D, Goff S et al (2002) The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer 94:1708–1712CrossRefPubMed
24.
Järvinen HJ, Renkonen-Sinisalo L, Aktán-Collán K, Peltomäki P, Aaltonen LA, Mecklin JP (2009) Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. J Clin Oncol 27:4793–4797CrossRefPubMed
Metadata
Title
High risk for neoplastic transformation of endometriosis in a carrier of lynch syndrome
Authors
Christine Nyiraneza
Etienne Marbaix
Mireille Smets
Christine Galant
Christine Sempoux
Karin Dahan
Publication date
01-09-2010
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 3/2010
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-010-9321-1

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