Rare Diagnoses and Diagnostic Pitfalls in Female Genital Tract Neoplasms: A Case Series

Abstract

There is a wide spectrum of disorders that may originate from different parts of the female genital tract. They are often unique and rare, posing a diagnostic challenge for reporting pathologists. Their uniqueness lies in the rare histomorphologic picture and challenging clinical scenarios, accentuated by a paucity of available literature. Sometimes, histomorphology alone may not be sufficient for diagnosis, and ancillary studies like Immunohistochemistry (IHC) may help arrive at a definitive diagnosis. Present article represents a series of six unique cases. The first case presented with virilising features and menstrual irregularities. Gross examination of the adnexal neoplasm showed solid yellowish-orange areas, which were diagnosed as Steroid Cell Tumour (SCT), Not Otherwise Specified (NOS) based on histomorphology. This diagnosis was further substantiated by diffuse and strong Inhibin positivity on IHC. The second case presented with huge abdominal distention and markedly raised CA-125 levels. It was diagnosed as mucinous carcinoma with a focus of Benign Brenner Tumour. The third case presented with postmenopausal bleeding and underwent radical hysterectomy. Gross examination revealed simultaneous involvement of the unilateral adnexa, and it was finally diagnosed as endometrioid carcinoma with adnexal metastasis, International Federation of Gynaecology and Obstetrics (FIGO) stage IIIA. The fourth case was a cervical carcinoma with histomorphology suggestive of high-grade, but it did not fit into any of the known subtypes of adenocarcinoma. Therefore, it was reported as Adenocarcinoma NOS with focal mucinous differentiation. The fifth case was a rare cervical Adenosquamous Carcinoma (ASCC) with both malignant squamous and glandular components. The sixth case was of mesenchymal origin in the vulva, namely Aggressive Angiomyxoma (AA). All these cases highlight the fact that pathologists should be well aware of these entities to make an appropriate diagnosis.