An 11-year-old girl with delayed puberty is found to have bilateral gonadal masses. Karyotype shows 46,XY with streak gonads. Histology of the removed gonad reveals nests of germ cells and sex cord derivatives arranged around eosinophilic basement membrane-like material with focal calcification. What is the diagnosis and its key implication?
- A Gonadoblastoma, an in situ malignancy with high risk of invasive dysgerminoma in Y chromosome bearing dysgenetic gonads ✓
- B Dysgerminoma, managed with chemotherapy alone
- C Juvenile granulosa cell tumour, requiring hysterectomy
- D Sex cord tumour with annular tubules, screened for Peutz-Jeghers syndrome
Correct answer: A. Gonadoblastoma, an in situ malignancy with high risk of invasive dysgerminoma in Y chromosome bearing dysgenetic gonads
Explanation
Gonadoblastoma is a benign in situ neoplasm composed of germ cells admixed with sex cord stromal elements, occurring almost exclusively in dysgenetic gonads carrying Y chromosome material. It frequently calcifies and carries a high risk of progression to invasive dysgerminoma, so prophylactic gonadectomy is indicated. Sex cord tumour with annular tubules is linked to Peutz-Jeghers syndrome, and juvenile granulosa cell tumour occurs in normal ovaries, not dysgenetic streak gonads.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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