Germ Cell tumor

Question 1

A patient virilizing ovarian mass, consistent with a testosterone-producing stromal sex-cord tumor such as Sertoli-Leydig cell tumor. Which mutation ?

Answer 1

DICER 1

other tumors:

a.	Cystic nephroma
b.	Pleuropulmonary blastoma
c.	Embryonal rhabdomyosarcoma
d.	Medulloblastoma

Question 2

Difference betweeen Sertoli-Leydig tumors typically and juvenile granulosa ?

Answer 2

Sertoli-Leydig tumors typically are associated with elevated levels of testosterone causing secondary amenorrhea and virilization.
juvenile granulosa cell tumors are often estrogen-secreting and can cause precocious puberty.

Question 3

A 28-month-old girl presents with constipation. On exam, there is a bluish mass along the right gluteal cleft. Imaging studies show a midline pelvic mass with retroperitoneal nodal enlargement and multiple lung and liver metastases. Alpha-fetoprotein (AFP) serum concentration is 320,000 ng/mL. A biopsy of the primary mass is performed, and pathology is pending.

Answer 3

This is a typical presentation of a stage IV sacrococcygeal germ cell tumor originating from an untreated sacrococcygeal teratoma.

Because this is a prepubertal child, this is a type I germ cell tumor.

The most common malignant histology in this scenario is yolk sac tumor. The high AFP serum concentration is consistent with this diagnosis.

Question 4

Choriocarcinoma

Answer 4

Choriocarcinoma is typically associated with elevated beta-HCG

Question 5

A post-pubertal male was diagnosed with testicular cancer confirmed by the pathology of the testes following orchiectomy (mixed malignant germ cell tumor comprised of teratoma, embryonal carcinoma and yolk sac tumor), Post-operative AFP is elevated (1000 ng/ml)., B-HCG is normal On abdominal and pelvic CT at time of diagnosis, there was a mass in the region of the aortocaval nodes measuring 5x 3 x3 cm. The patient received 3 cycles of BEP bleomycin, etoposide and cisplatin) and end of treatment scans were obtained. The mass now measures 0.5 X 0.9 X 0.2 cm. AFP is 500 ng/ml.. Restaging does not show evidence of any metastatic disease elsewhere. What is the recommended next step in management.

Answer 5

The fact that the tumor marker AFP has not normalized, even though the retroperitoneal mass is smaller and there is no other evidence of distant metastatic disease, means that the patient has cisplatin-resistant disease. More of the same chemotherapy (BEP) (i.e “consolidation” ) has not been shown to be of benefit.

Need to do second-line therapy