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Familial Testicular Germ Cell Tumor

MedGen UID:
858748
•Concept ID:
C3899154
•
Neoplastic Process

Definition

Germ cell tumor that arises from the testis and is diagnosed in at least two relatives. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial Testicular Germ Cell Tumor

Professional guidelines

PubMed

Immune checkpoint inhibitors and Chimeric Antigen Receptor (CAR)-T cell therapy: Potential treatment options against Testicular Germ Cell Tumors.
Schepisi G, Gianni C, Cursano MC, Gallà V, Menna C, Casadei C, Bleve S, Lolli C, Martinelli G, Rosti G, De Giorgi U
Front Immunol 2023;14:1118610. Epub 2023 Feb 13 doi: 10.3389/fimmu.2023.1118610. PMID: 36860862Free PMC Article
Genetics of testicular cancer: a review.
Martin FC, Conduit C, Loveland KL, Thomas B, Lewin J, Tran B
Curr Opin Urol 2022 Sep 1;32(5):481-487. Epub 2022 Jul 18 doi: 10.1097/MOU.0000000000001017. PMID: 35855571
Familial testicular germ cell tumors in adults: 2010 summary of genetic risk factors and clinical phenotype.
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
Endocr Relat Cancer 2010 Jun;17(2):R109-21. Epub 2010 Mar 8 doi: 10.1677/ERC-09-0254. PMID: 20228134Free PMC Article

Recent clinical studies

Etiology

Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.
Truscott L, Gell J, Chang VY, Lee H, Strom SP, Pillai R, Sisk A, Martinez-Agosto JA, Anderson M, Federman N
Pediatr Blood Cancer 2017 Jan;64(1):100-102. Epub 2016 Aug 31 doi: 10.1002/pbc.26197. PMID: 27577987Free PMC Article
Rare inactivating PDE11A variants associated with testicular germ cell tumors.
Pathak A, Stewart DR, Faucz FR, Xekouki P, Bass S, Vogt A, Zhang X, Boland J, Yeager M, Loud JT, Nathanson KL, McGlynn KA, Stratakis CA, Greene MH, Mirabello L
Endocr Relat Cancer 2015 Dec;22(6):909-17. doi: 10.1530/ERC-15-0034. PMID: 26459559Free PMC Article
Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.
Azevedo MF, Horvath A, Bornstein ER, Almeida MQ, Xekouki P, Faucz FR, Gourgari E, Nadella K, Remmers EF, Quezado M, de Alexandre RB, Kratz CP, Nesterova M, Greene MH, Stratakis CA
J Clin Endocrinol Metab 2013 Aug;98(8):E1393-400. Epub 2013 Jun 14 doi: 10.1210/jc.2012-2838. PMID: 23771924Free PMC Article
A mini-review of familial ovarian germ cell tumors: an additional manifestation of the familial testicular germ cell tumor syndrome.
Giambartolomei C, Mueller CM, Greene MH, Korde LA
Cancer Epidemiol 2009 Jul;33(1):31-6. Epub 2009 May 30 doi: 10.1016/j.canep.2009.04.015. PMID: 19679044Free PMC Article

Diagnosis

Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.
Truscott L, Gell J, Chang VY, Lee H, Strom SP, Pillai R, Sisk A, Martinez-Agosto JA, Anderson M, Federman N
Pediatr Blood Cancer 2017 Jan;64(1):100-102. Epub 2016 Aug 31 doi: 10.1002/pbc.26197. PMID: 27577987Free PMC Article

Therapy

Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.
Truscott L, Gell J, Chang VY, Lee H, Strom SP, Pillai R, Sisk A, Martinez-Agosto JA, Anderson M, Federman N
Pediatr Blood Cancer 2017 Jan;64(1):100-102. Epub 2016 Aug 31 doi: 10.1002/pbc.26197. PMID: 27577987Free PMC Article

Prognosis

Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.
Truscott L, Gell J, Chang VY, Lee H, Strom SP, Pillai R, Sisk A, Martinez-Agosto JA, Anderson M, Federman N
Pediatr Blood Cancer 2017 Jan;64(1):100-102. Epub 2016 Aug 31 doi: 10.1002/pbc.26197. PMID: 27577987Free PMC Article
A mini-review of familial ovarian germ cell tumors: an additional manifestation of the familial testicular germ cell tumor syndrome.
Giambartolomei C, Mueller CM, Greene MH, Korde LA
Cancer Epidemiol 2009 Jul;33(1):31-6. Epub 2009 May 30 doi: 10.1016/j.canep.2009.04.015. PMID: 19679044Free PMC Article

Clinical prediction guides

Rare inactivating PDE11A variants associated with testicular germ cell tumors.
Pathak A, Stewart DR, Faucz FR, Xekouki P, Bass S, Vogt A, Zhang X, Boland J, Yeager M, Loud JT, Nathanson KL, McGlynn KA, Stratakis CA, Greene MH, Mirabello L
Endocr Relat Cancer 2015 Dec;22(6):909-17. doi: 10.1530/ERC-15-0034. PMID: 26459559Free PMC Article

Supplemental Content

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