Detection of mutational alterations is important for guiding treatment decisions of lung non-small-cell carcinomas and thyroid nodules with atypical cytologic findings. Inoperable lung tumors requiring further testing for staging and thyroid lesions often are diagnosed using only cytology material. Molecular diagnostic tests of these samples typically are performed on cell blocks; however, insufficient cellularity of cell blocks is a limitation for test performance. In addition, some of the fixatives used while preparing cell blocks often introduces artifacts for mutation detection. Here, we applied qClamp xenonucleic technology and quantitative RT-PCR to cells microdissected directly from stained cytology smears to detect common alterations including mutations and translocations in non-small-cell carcinomas and thyroid lesions. By using this approach, we achieved a 1% molecular alteration detection rate from as few as 50 cells. Ultrasensitive methods of molecular alteration detection similar to the one described here will be increasingly important for the evaluation of molecular alterations in clinical scenarios when only tissue samples that are small are available.

Background Testosterone is one of the strategies that transmasculine persons can elect in order to align physical traits to their gender identity. Previous studies have shown morphologic changes in the genital tract associated with testosterone. Here, we aim to evaluate cervicovaginal cytology specimens (Pap tests) and high‐risk HPV (HR‐HPV) testing from transmasculine individuals receiving testosterone. Methods This is a retrospective cohort of 61 transmasculine individuals receiving testosterone from 2013 to 2021. Cytologic diagnoses from 65 Pap tests were correlated with HPV status and histologic follow‐up and compared with the institutional data and a cohort of cisgender women with atrophic changes. Results The median age was 28 years and median time of testosterone use was 3 years. Transmasculine persons showed significantly higher rates of HSIL (2%) and unsatisfactory (16%) when compared with the institutional data and atrophic cohort of cisgender women. After reviewing slides of 46 cases, additional findings were noted: atrophy was present in 87%, glycogenated cells were seen in 30%, and Lactobacilli were substantially decreased in 89%. Among 32 available HPV tests, 19% were positive for HR‐HPV and 81% were negative. On histologic follow‐up, all HR‐HPV‐positive cases with abnormal cytology showed HSIL, while none of the HPV‐negative cases revealed HSIL. Conclusion Our study cohort demonstrated a high percentage of abnormal Pap tests in transmasculine persons receiving testosterone. Testosterone seems to induce changes in squamous cells and shifts in vaginal flora. HR‐HPV testing can be a useful adjunct in the workup of abnormal Pap tests from transmasculine individuals.

We describe a case of synovial sarcoma originating from prostate gland. The diagnosis was confirmed by fluorescent in situ hybridization analysis (FISH) for SYT rearrangement on the cell block. Synovial sarcoma is a high grade soft tissue malignancy with exceedingly rare involvement of genitourinary tract. However this entity should be considered in the differential diagnosis when dealing with aspiration biopsies of particularly deep seated lesions with spindle cell or small round blue cell cytomorphology. Diagn. Cytopathol. 2017;45:168-172. © 2016 Wiley Periodicals, Inc.