Hum Pathol 2022 05 1;123:46-58. Epub 2022 Mar 1.
Departments of Human Genetics, Medicine and Oncology, McGill University, Montréal, Québec, Canada; Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, QC, Canada, H3T 1E2.
Many sarcomas with DICER1 pathogenic variants (PVs) exhibit a characteristic morphology, including a subepithelial layer of malignant mesenchymal cells, areas of rhabdomyoblastic differentiation and cartilaginous and/or osseous elements. We report 5 DICER1-associated neoplasms (1 moderately to poorly differentiated Sertoli Leydig cell tumour and 4 sarcomas) containing variable amounts of neuroectodermal elements. The neoplasms predominantly involved or were in close proximity to the female genital tract (ovary, uterine corpus, abdominal and pelvic cavity) and occurred in females aged 14 months to 54 years. Read More