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

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Hereditary Cancer in Clinical Practice
Published in: Hereditary Cancer in Clinical Practice 1/2013

Open Access 01-12-2013 | Case report

Should extragonadal germ cell tumors be included in studies of families with testicular germ cell tumors?

Authors: Rodrigo Santa Cruz Guindalini, Edite Paulo de Oliveira, Marina Cavalcanto Moroja Silvino, Paulo Marcelo Hoff, Bernardo Garicochea

Published in: Hereditary Cancer in Clinical Practice | Issue 1/2013

Login to get access

Abstract

Background

Family history is among the few established risk factors for testicular germ cell tumor (TGCT). Approximately 1.4% of newly diagnosed TGCT patients report a positive family history of TGCT. Sons and siblings of TGCT patients have four- to six fold and eight- to tenfold increase in TGCT risk, respectively. In twins of men with TGCT the relative risk of testicular cancer is 37.5 (12.3-115.6). Nevertheless, information about the occurrence of TGCT in relatives of patients with extragonadal germ cell tumor is limited.

Case report

A 24 year-old male patient was diagnosed with a mediastinum tumor and was submitted to image-guided biopsy, which revealed a seminoma. Two months later, his non-identical asymptomatic twin brother was submitted to an elective ultrasound of the testes, which showed a left testicular mass of 4.2 cm. This patient underwent orchiectomy revealing a seminoma of the left testis. There are no other cases of seminoma or other types of cancers reported in first-degree relatives in this family.

Conclusions

Although familial aggregations of TGCT have been well described, to the best of our knowledge, no data concerning the association of gonadal and extragonadal germ cell tumor in relatives has been previously reported. Further investigation on this association is warranted and may help in improving our knowledge of familial pattern inheritance.
Literature
1.
Greene MH, Kratz CP, Mai PL, Mueller C, Peters JA, Bratslavsky G, Ling A, Choyke PM, Premkumar A, Bracci J, Watkins RJ, McMaster ML, Korde LA: Familial testicular germ cell tumors in adults: 2010 summary of genetic risk factors and clinical phenotype. Endocr Relat Cancer 2010, 17: R109-R121. 10.1677/ERC-09-0254CrossRefPubMedPubMedCentral
2.
Dieckmann KP, Pichlmeier U: The prevalence of familial testicular cancer: an analysis of two patient populations and a review of the literature. Cancer 1997, 80: 1954–1960. 10.1002/(SICI)1097-0142(19971115)80:10<1954::AID-CNCR12>3.0.CO;2-XCrossRefPubMed
3.
Hemminki K, Li X: Familial risk in testicular cancer as a clue to a heritable and environmental aetiology. Br J Cancer 2004, 90: 1765–1770. 10.1038/sj.bjc.6601714CrossRefPubMedPubMedCentral
4.
Dong C, Hemminki K: Modification of cancer risks in offspring by sibling and parental cancers from 2,112,616 nuclear families. Int J Cancer 2001, 92: 144–150. 10.1002/1097-0215(200102)9999:9999<::AID-IJC1147>3.0.CO;2-CCrossRefPubMed
5.
Swerdlow AJ, De Stavola BL, Swanwick MA, Maconochie NE: Risks of breast and testicular cancers in young adult twins in England and Wales: evidence on prenatal and genetic aetiology. Lancet 1997, 350: 1723–1728. 10.1016/S0140-6736(97)05526-8CrossRefPubMed
6.
Heimdal K, Olsson H, Tretli S, Fossa SD, Borresen AL, Bishop DT: A segregation analysis of testicular cancer based on Norwegian and Swedish families. Br J Cancer 1997, 75: 1084–1087. 10.1038/bjc.1997.185CrossRefPubMedPubMedCentral
7.
Crockford GP, Linger R, Hockley S, Dudakia D, Johnson L, Huddart R, Tucker K, Friedlander M, Phillips KA, Hogg D, Jewett MA, Lohynska R, Daugaard G, Richard S, Chompret A, Bonaïti-Pellié C, Heidenreich A, Albers P, Olah E, Geczi L, Bodrogi I, Ormiston WJ, Daly PA, Guilford P, Fosså SD, Heimdal K, Tjulandin SA, Liubchenko L, Stoll H, Weber W, Forman D, Oliver T, Einhorn L, McMaster M, Kramer J, Greene MH, Weber BL, Nathanson KL, Cortessis V, Easton DF, Bishop DT, Stratton MR, Rapley EA: Genome-wide linkage screen for testicular germ cell tumour susceptibility loci. Hum Mol Genet 2006, 15: 443–451.CrossRefPubMed
8.
Nathanson KL, Kanetsky PA, Hawes R, Vaughn DJ, Letrero R, Tucker K, Friedlander M, Phillips KA, Hogg D, Jewett MA, Lohynska R, Daugaard G, Richard S, Chompret A, Bonaïti-Pellié C, Heidenreich A, Olah E, Geczi L, Bodrogi I, Ormiston WJ, Daly PA, Oosterhuis JW, Gillis AJ, Looijenga LH, Guilford P, Fosså SD, Heimdal K, Tjulandin SA, Liubchenko L, Stoll H, Weber W, Rudd M, Huddart R, Crockford GP, Forman D, Oliver DT, Einhorn L, Weber BL, Kramer J, McMaster M, Greene MH, Pike M, Cortessis V, Chen C, Schwartz SM, Bishop DT, Easton DF, Stratton MR, Rapley EA: The Y deletion gr/gr and susceptibility to testicular germ cell tumor. Am J Hum Genet 2005, 77: 1034–1043. 10.1086/498455CrossRefPubMedPubMedCentral
9.
Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J, Stratakis CA: Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. Cancer Res 2009, 69: 5301–5306. 10.1158/0008-5472.CAN-09-0884CrossRefPubMedPubMedCentral
10.
Mai PL, Friedlander M, Tucker K, Phillips KA, Hogg D, Jewett MA, Lohynska R, Daugaard G, Richard S, Bonaïti-Pellié C, Heidenreich A, Albers P, Bodrogi I, Geczi L, Olah E, Daly PA, Guilford P, Fosså SD, Heimdal K, Liubchenko L, Tjulandin SA, Stoll H, Weber W, Easton DF, Dudakia D, Huddart R, Stratton MR, Einhorn L, Korde L, Nathanson KL, Bishop DT, Rapley EA, Greene MH: The international testicular cancer linkage consortium: a clinicopathologic descriptive analysis of 461 familial malignant testicular germ cell tumor kindred. Urol Oncol 2010, 28: 492–499. 10.1016/j.urolonc.2008.10.004CrossRefPubMed
11.
Lin K, Sharangpani R: Screening for testicular cancer: an evidence review for the U.S. Preventive Services Task Force. Ann Intern Med 2010, 153: 396–399.CrossRefPubMed
12.
13.
14.
15.
Daugaard G, Rorth M, von der Maase H, Skakkebaek NE: Management of extragonadal germ-cell tumors and the significance of bilateral testicular biopsies. Ann Oncol 1992, 3: 283–289.PubMed
Metadata
Title
Should extragonadal germ cell tumors be included in studies of families with testicular germ cell tumors?
Authors
Rodrigo Santa Cruz Guindalini
Edite Paulo de Oliveira
Marina Cavalcanto Moroja Silvino
Paulo Marcelo Hoff
Bernardo Garicochea
Publication date
01-12-2013
Publisher
BioMed Central
Published in
Hereditary Cancer in Clinical Practice / Issue 1/2013
Electronic ISSN: 1897-4287
DOI
https://doi.org/10.1186/1897-4287-11-1

Other articles of this Issue 1/2013

Hereditary Cancer in Clinical Practice 1/2013 Go to the issue

Review

Hereditary breast cancer: ever more pieces to the polygenic puzzle

Research

Experience of BRCA1/2 mutation-negative young women from families with hereditary breast and ovarian cancer: a qualitative study

Research

Psoriasis vulgaris and familial cancer risk- a population-based study

Research

The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients

Research

Mutation spectrum in South American Lynch syndrome families

Review

Hamartomatous polyposis syndromes
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