Androgen insensitivity syndrome: Can cytology help?

Androgen insensitivity syndrome (AIS) is described as a patient's clinical (phenotypical) presentation as a female with male karyotyping. Classically, patients are normal looking females with complaints of primary amenorrhea. The gonads may be found as extra-genital swellings; rarely, the testes may undergo malignant transformation. Thus, gonadectomy is indicated in these patients on attaining puberty. A rare and interesting case of clinically unsuspected AIS in a young female who presented with primary amenorrhea and inguinal swelling is reported. The initial diagnosis was suggested on fine needle aspiration cytology (FNAC) from the inguinal swelling that showed the presence of Sertoli cells. Further family history revealed two similar siblings; karyotyping and histopathology confirmed the diagnosis of AIS in the patient. This case highlights the importance of FNAC in early diagnosis and a multidisciplinary approach to confirm the diagnosis and help in appropriate management.

Dermatofibrosarcoma protuberans: Clinicopathological spectrum with emphasis on lymph node metastasis and fibrosarcomatous transformation.

Introduction: Dermatofibrosarcoma protuberans (DFSP) is an uncommon skin tumor with a low-to-intermediate grade of malignancy, characterized by progressive growth and a propensity for local recurrence. In this series, we are analyzing the clinicopathological spectrum of DFSP cases. Materials and Methods: A retrospective study of 12 patients with DFSP who were diagnosed at our institute over the last 2 years (2018-2020) was performed. Results: The clinicopathological spectrum and immunohistochemistry of DFSP cases were studied with one case with lymph node metastasis, which is a rare entity, and two cases of the fibrosarcomatous DFSP were also diagnosed and warrant a special mention. Conclusion: Pathologists should be aware of metastasis and unusual variants while reporting dermatofibrosarcoma.

Cytological Diagnosis of Malignant Mesothelioma: A Case Series.

Background: Mesotheliomas are neoplasms of the serosal lining of the body cavities. Diagnosis requires a multimodal approach of clinical findings, cytology, and histopathology with immunohistochemistry (IHC). The published sensitivity of cytology for diagnosing mesothelioma ranges from 30% to 75%. Aim and Objectives: This study aimed to calculate the incidence of malignant mesothelioma (MM) at our institute and to study the cytological features of MM. Materials and Methods: A retrospective study of pleural, peritoneal, and pericardial fluids submitted at our institute was done. The duration of the study was 8 years (2011-2019). Apart from examining Giemsa smears, a panel of immunocytochemical (ICC) and cell block immunohistochemical (IHC) markers was applied to achieve the diagnosis. These included calretinin, mesothelin, CK5/6, Hector Battifora mesothelial cell antibody (HBME), WT1, MOC31, CK7 and CK20. Histopathological correlation was done wherever possible. Result: In the present study, we compiled four cases of MM over 8 years diagnosed on serous effusion cytology and confirmed by immunocytochemistry (ICC)/cell block immunohistochemistry (IHC)/biopsy. This indicates a rare incidence of MM. The Cytological features of MM were studied. Conclusion: The diagnosis of MM is difficult, especially cytologically. It was found to be a rare entity in the malignant cases diagnosed on effusion cytology.

Basaloid squamous cell carcinoma of anal canal with adenoid cystic pattern and liver metastasis: A rare case report.

Anal malignancies are rare, and of these squamous cell carcinoma and basaloid squamous cell carcinoma are the most common types. Anal basaloid squamous carcinoma (BSC) can show a variety of patterns including unusual variants with cribriform areas resembling adenoid cystic carcinoma (ACC). BSC is reported more frequently in elderly females. Although the histopathology of BSC is characteristic, its cytomorphology is rarely described in the anorectal region. Due to overlapping morphological features, it is challenging to distinguish between ACC and BSC. Immunohistochemistry (IHC) is mandatory for this distinction and definite diagnosis, as it is a highly aggressive tumor with a tendency for distant metastasis. An interesting and rare case of BSC with ACC-pattern arising in the anal canal with liver metastasis in a middle-aged male is reported here. The aim is to highlight its cytological features, correlation with histology, IHC and its differential diagnoses.

Primary acinic cell carcinoma of the breast: A case report with a clinicopathological and immunohistochemical study of a rare breast cancer subtype.

Acinic cell carcinoma (ACC) of the breast is extremely rare subtype of triple-negative breast carcinoma and demonstrates extensive morphologic overlap with acinic cell carcinoma of the salivary gland. Herein, we report a case of acinic cell carcinoma of the breast in a 41-year old female presenting with a palpable breast mass along with significant morphological and immunohistochemical findings. Histologically, ACC showed a diffuse glandular infiltrative pattern, with small acinar or glandular structures mixed with solid nests. Both glandular and solid tumor cell populations were strongly positive for lysozyme. The immunohistochemical profile of the tumor was also similar to that of salivary gland acinic cell carcinoma. She received postoperative chemoradiation therapy and has been doing well. As studies on large series are lacking, further studies are needed to elucidate the biological characteristics of acinic cell carcinoma of the breast. In this study, we perform a detailed morphologic and immunohistochemical description of cases of this rare entity and undertake a comprehensive review of all reported cases of breast acinic cell carcinoma in the English language literature to date.

Inflammatory pseudotumour: A rare tumor of lung.

Inflammatory pseudotumours of the lungs have rarely been reported. These have been described as a benign entity of unknown origin and are often locally invasive requiring extensive pulmonary resection. Complete resection is the key to prevent recurrence and the prognosis is excellent following surgery. We describe a patient with inflammatory pseudotumour of the lung. He was a middle aged man who presented with haemotysis and the chest X-ray and computerized tomography were indicative of a nonbenign lesion in the right upper lobe. Excision biopsy confirmed the diagnosis of inflammatory myofibroblastic pseudotumour of the lung. This is a rare inflammatory nonneoplastic condition commonly affecting children and young adults.