DSD-associated germ cell tumor

Malignant germ cell tumor (GCT) formation is a well-known complication in the management of patients with a disorder of sex development (DSD).

DSDs are defined as congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical.

DSD patients in whom the karyotype - at least at the gonadal level - contains (a part of) the Y chromosome are at increased risk for neoplastic transformation of germ cells, leading to the development of the so-called ’type II germ cell tumors’.

However, tumor risk in the various forms of DSD varies considerably between the different diagnostic groups.

High incidence of germ cell tumors arising from dysgenetic gonads in patients with sexual chromosome abnormalities has been described, especially in patients with a Y chromosome bearing cell line.

Cytogenetics

 Germ cell tumor showing partial trisomy 1 in a gonadectomized intersex child with monosomy X and double Y mosaicism. (17114963)

References

 Gonadal development and tumor formation at the crossroads of male and female sex determination. Cools M, Wolffenbuttel KP, Drop SL, Oosterhuis JW, Looijenga LH. Sex Dev. 2011;5(4):167-80. PMID: 21791949

 Germ cell tumor showing partial trisomy 1 in a gonadectomized intersex child with monosomy X and double Y mosaicism. Ogur G, Pinarli FG, Dağdemir A, Artan S, Artürk E, Elli M, Sezer OT, Okten G. J Pediatr Hematol Oncol. 2006 Nov;28(11):750-4. PMID: 17114963