Analysis of cytology of germ cell tumors with histopathological and serum tumor marker correlation: a tertiary care centre experience

Background: Germ cell tumors are found primarily in children and young adults usually arising from gonads and rarely from extragonadal sites like mediastinum, retroperitoneum, pineal gland and sacrococcygeal region. Involvement of lymphnodes or bodycavities (pleural/peritoneal cavity) is usually associated with metastatic disease.Methods: This is a retrospective analysis of 96 cases of germ cell tumor for which a primary diagnosis of germ cell tumor was given by cytology from primary and metastatic sites. The study period is from January 1993- December 2013. Pap stained and Romanowsky stained smears and cell block sections (10cases) were studied. Serum tumor markers (LDH, BetaHCG and AFP) were correlated in all cases along with histopathology in available cases.Results: Among 96 cases 34 were diagnosed as seminoma/dysgerminoma,10 as embryonal carcinoma,9 as yolk sac tumor,6 as teratoma and 2 as mixed germ ell tumor. In 25 cases the cytology report was suggestive of germ cell tumor and in 10 cases malignant cells favouring germ cell tumor. Among the 10 cases the serum markers were high in six of the cases and the clinician after discussing with the pathologist treated them as germ cell tumors. 47 cases had histopathology and it correlated with cytology except in 14 cases which showed no residual neoplasm after chemotherapy. 15 cases expired immediately after the diagnosis or during the course of treatment 12cases were lost to follow up. Rest of the cases have completed the treatment. In our study the serum tumor markers showed a sensitivity of 92.75% and positive predictive value was 71.11%.Conclusions: The study highlights the importance of picking up the diagnosis of germ cell tumors by fine needle aspiration cytology so that patient can get an early diagnosis, effective treatment and a multidisciplinary approach is essential in diagnosing a difficult case of germ cell tumor. Previous history, radiology, clinical features and serum tumor markers all aid in the cytological diagnosis of germ cell tumor