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Malignant tumor of testis(TGCT)

MedGen UID:
Concept ID:
Neoplastic Process
Synonyms: Cancer of the testes; GERM CELL TUMOR, SOMATIC; MALE GERM CELL TUMOR; Primordial germ cell tumor susceptibility locus 1; Testicular cancer; TESTICULAR GERM CELL TUMOR; TESTICULAR TERATOMA, SOMATIC; Testicular tumor, somatic; TGCT
Modes of inheritance:
Somatic mutation
MedGen UID:
Concept ID:
Cell or Molecular Dysfunction
Sources: HPO, OMIM
A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.
MedGen UID:
Concept ID:
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Somatic mutation (HPO, OMIM)
Sporadic (HPO, OMIM)
SNOMED CT: Malignant tumor of testis (363449006)
Genes (locations): BCL10 (1p22.3); FGFR3 (4p16.3); KIT (4q12); STK11 (19p13.3)
OMIM®: 273300


Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000). Genetic Heterogeneity of Testicular Germ Cell Tumors A locus for testicular germ cell tumors (TGCT1; 300228) has been identified on chromosome Xq27. [from OMIM]

Clinical features

MedGen UID:
Concept ID:
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Gonadal dysgenesis
MedGen UID:
Concept ID:
Congenital Abnormality
A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.
MedGen UID:
Concept ID:
Neoplastic Process
A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.
Abnormality of metabolism/homeostasis
MedGen UID:
Concept ID:

Term Hierarchy

Professional guidelines


Sturgeon CM, Duffy MJ, Stenman UH, Lilja H, Brünner N, Chan DW, Babaian R, Bast RC Jr, Dowell B, Esteva FJ, Haglund C, Harbeck N, Hayes DF, Holten-Andersen M, Klee GG, Lamerz R, Looijenga LH, Molina R, Nielsen HJ, Rittenhouse H, Semjonow A, Shih IeM, Sibley P, Sölétormos G, Stephan C, Sokoll L, Hoffman BR, Diamandis EP; National Academy of Clinical Biochemistry.
Clin Chem 2008 Dec;54(12):e11-79. doi: 10.1373/clinchem.2008.105601. PMID: 19042984

Recent clinical studies


Kao HW, Wu CJ, Chen CY, Sun GH, Lee SS, Peng YJ
Arch Androl 2005 Sep-Oct;51(5):407-11. doi: 10.1080/014850190944393. PMID: 16087569

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