Recurrent Unilateral Gonadoblastoma - A rare histopathological presentation

Abstract

Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects patients with disorders of sexual development. The exact prevalence of gonadoblastoma is not known. The association of gonadoblastomas with dysgerminoma is seen in 50-60% of cases and with other malignant germ cell tumours like yolk sac tumour, embryonal carcinoma and choriocarcinoma in 10% of cases. We herewith report a rare case of recurrent unilateral gonadoblastoma in a 10 year old Indian male who presented with abnormal passage of urine since birth. Physical examination showed a phenotypic male with undescended right testis and ambiguous external genitalia. Computed tomography scan reported mixed density solid cystic mass in pelvis with peripherally enhancing solid component and a few punctuate foci of calcification. Histo-pathological examination showed a heterogeneous tumor comprising of malignant seminomatous, sertoli and leydig cell tumor along with yolk cell tumor component. Serum alpha fetoprotein was raised to 1210 ng/ml.

Keywords

• Gonadoblastoma,Seminoma,Yolk sac Tumor,Ambiguous genitalia

Tekrarlayan unilateral gonadoblastom: Nadir bir histopatolojik sunum

Öz

Gonadoblastom, malign transformasyon potansiyeli olan ve cinsel gelişim bozukluğu olan hastaları etkileyen nadir bir benign tümördür. Gonadoblastomun kesin prevalansı bilinmemektedir. Gonadoblastomaların dysgerminoma ile ilişkisi olguların %50-60'ında ve vakaların %10'unda yolk kesesi tümörü, embriyonal karsinom ve koriokarsinom gibi diğer malign germ hücreli tümörlerde görülür. Bu yazıda, doğumdan beri idrarın anormal geçişi ile başvuran 10 yaşındaki bir Hintli erkeğin nadir bir tekrarlayan tek taraflı gonadoblastoma vakasını sunduk. Fizik muayenede inmemiş sağ testis ve belirsiz dış genital bölgede fenotipik bir erkek vardı. Bilgisayarlı tomografi taraması, pelviste periferik olarak gelişen katı bileşen ve birkaç noktalama kalsifikasyon odakları ile karışık yoğunluktaki katı kistik kitleyi bildirdi. Histo-patolojik inceleme, yumurta hücresi tümör bileşeniyle birlikte malign seminomatöz, sertoli ve leydig hücresi tümörünü içeren heterojen bir tümör gösterdi. Serum alfa fetoprotein 1210 ng/ml düzeyine çıktı.

Anahtar Kelimeler

• Gonadoblastoma,Seminom,Yolk sak tümörü,Belirsiz genitalya

References

1. 1. Scully RE. Gonadoblastoma. A review of 74 cases. Cancer. 1970; 25:1340-56.
2. 2. Scully R, Young R, Clement R Tumors of the ovary, mal-developed gonads, fallopian tube, and broad ligament. Atlas of tumour pathology, Armed Forces Institute of Pathology, Washington, DC, 2010; Vol 4, Fascicle. 23:287-99.
3. 3. Gorosito M, Pancera B, Sarancone S, Nocito AL. Gonadoblastoma: an unusual ovarian tumour. Ann Diagn Pathol. 2010; 14(4):247-50.
4. 4. Talerman A. Germ cell tumours of the ovary. In: Kurman RJ, editors. Blaustein's Pathology of the female genital tract. 7 th ed. New York, Springer-Verlag; 2010:967-1033.
5. 5. Bonnie MCrosby, Roshanak M, Jennifer ED, Laurence BM, V RS, Elise GA, et al. State of the art review in gonadal dysgenesis: challenges in diagnosis and management. Int J Pediatr Endocrinol. 2014;20(14):4-14.
6. 6. Esin S, Baser E, Kucukozkan T, Magden HA. Ovarian gonadoblastoma with dysgerminoma in a 15-year old girl with 46, XX karyotype: case report and review of the literature. Arch Gyanecol Obstet. 2012;285:447-51.
7. 7. Gelincik I, Ozen S, Bayram I. Left ovarian gonadoblastoma with yolk sac tumour in a young woman. Ind J Pathol Microbiol. 2010;53:345-46.
8. 8. Hughes IA, Houk C, Ahmed SF, Lee PA, Group LC. Consensus statement on management of intersex disorders. Arch Dis Child. 2011;91:554-63.

9. 9. Hersmus R, Vander ZYG, Stoop H, Bernard P, Sreenivasan R, Wolter OJ, et al. A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation. PLoS ONE. 2012;7(7):40-8.
10. 10. Deepa VK, Kishan P, Aparna R, Rohan GK, Sara C, Harish S, et al. Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report. Journal of Clinical and Diagnostic Research. 2013;7(9):2021-2.
11. 11. Geerts I, Vergote I, Neven P, Billen J. The role of inhibins B and antimullerian hormone for diagnosis and follow-up of granulosa cell tumours. Int J Gynecol Cancer. 2012;19(5):847-55.
12. 12. Barros BA, Moraes SG, Coeli FB, Assumpc¸ão JG, De Mello MP, Maciel-Guerra AT, et al. OCT4 immunohistochemistry may benecessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences. Hum Reprod. 2011;26:3450-5.
13. 13. Looijenga LH, Stoop H, de Leeuw HP, de Gouveia Brazao CA, Gillis AJ. POU5F1 (OCT3/4) identifies cells with pluripotent potential in human germ cell tumors. Cancer Res. 2013;63:2244-50.
14. 14. Knauer-Fischer S, Besikoglu B, Inta I, Kneppo C, Vogt PH, Bet-tendorf M. Analyses of gonadoblastoma Y (GBY)-locus and of Y centromere in Turner syndrome patients. Exp Clin Endocrinol Diabetes. 2015;123:61-5.
15. 15. Alessandra BT, Roseane LSilva, Marly A, Spadotto B. Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome. Rev Paul Pediatr. 2016;34(1):114-21.