Hirschsprung's (HSCR) disease, also known as aganglionic megacolon, or congenital intestinal aganglionosis affects roughly 1 out of every 5000 newborns. It is a birth defect characterized by the partial or complete loss of ganglion cells in the myenteric and submucosal plexus of the distal intestine which leads to ineffective peristalsis, constipation, and obstruction. Clinical assessment and radiological observations might imply HSCR disease, but definitive diagnosis requires biopsy interpretation and confirmation of ganglion cell loss.
View Article and Find Full Text PDFIntrahepatic cholangiocarcinoma is a primary liver malignancy with poor prognosis and limited treatment options. Lymphoepithelioma-like intrahepatic cholangiocarcinoma is an exceedingly rare variant of intrahepatic cholangiocarcinoma that histologically resembles nasopharyngeal carcinoma, previously known as lymphoepithelioma. It was first reported by Hsu et al in 1996 and they were able to show the presence of Epstein-Barr virus in tumor cells.
View Article and Find Full Text PDFEncapsulated apocrine papilloma of the breast without myoepithelial cell markers is a rare occurrence. For its diagnosis, histopathological examination shows encapsulated apocrine papilloma lacking myoepithelial cell markers. To the best of our knowledge, this is the first documented case of an encapsulated apocrine papilloma entirely devoid of myoepithelial cell markers.
View Article and Find Full Text PDFHematol Oncol Clin North Am
October 2023
Recent advances in our understanding of the molecular alterations underlying different types of renal cell carcinoma (RCC), as well as the implementation of immune checkpoint inhibitors in the treatment of patients with advanced disease, have significantly expanded the role of pathologists in the management of RCC patients and in the identification of predictive biomarkers that can guide patient treatment. In this chapter, we examine pathologists' evolving role in patient care and the development of precision medicine strategies for RCC.
View Article and Find Full Text PDFColonic carcinosarcoma is an extremely rare tumor composed of mixed malignant epithelial and mesenchymal cells. Due to its rarity, its pathogenesis is poorly understood, and there are no specific guidelines for its treatment.
View Article and Find Full Text PDFOncocytic Papillary Renal Cell Carcinoma (OPRCC) is a rare variant of renal cell carcinoma with overlapping characteristics type 1 and 2 of papillary renal carcinoma. Based on the literature, OPRCC is predominantly present in adult males. OPRCC has a specific genetic affiliation with the Fumarate Hydratase gene requiring all patients diagnosed with OPRCC to undergo genetic testing.
View Article and Find Full Text PDFSebaceous carcinoma of the breast is an extremely rare tumor. To the best of our knowledge only 15 cases have been reported in literature. Herein, we report a case of sebaceous carcinoma of the breast and describe the histopathologic features of sebaceous carcinoma of the breast in an elderly female.
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