Jornal de Biomarcadores Moleculares e Diagnóstico

Missing Clinical Work Up Leading to Misdiagnosis of a Case of Germ Cell Tumour

Abstract

Gayatri Gogoi, Utpal Dutta, Swagata Dowerah, Projnan Saikia and Mondita Borgohain

Background: The large majority of primary testicular tumours originate from germ cells. Cryptorchidism remains the most common risk factor for testicular germ cell tumors. Approximately 10% of the cases are associated with past (corrected) or present cryptorchidism. Seminoma is the most frequent GCT and frequently occurs in undescended testes (5% to 8%).

Case report: A 30-year male attended surgery OPD with a mass in the right lumbar region. CT scan revealed a small intestinal mass which was also verified by the surgeons intraoperatively. On histopathological examination of the resected specimen a diagnosis of neuroendocrine tumour (Carcinoid) was offered. The patient came to us requesting immunohistochemistry for confirmation but it showed CK and chromogranin negativity. Further marker study showed the tumour to be positive for CD117. Revised histomorphology along with immunohistochemistry favoured the diagnosis of extragonadal germ cell tumour (seminoma). Surgeons later confirmed the soft tissue mass to be that of undescended testis, thereby leading to a final diagnosis of seminoma.

Conclusion: Cryptorchid patients have approximately a fourfold elevated risk of testicular germ cell tumors. The histopathological diagnosis at times is sufficient when proper background information is available to the pathologist. In the absence of such information, the use of adjunct studies helps us to arrive at a correct diagnosis.