CYLD-mutant Cylindroma-like Basaloid Carcinoma of the Anus: A Genetically and Morphologically Distinct Class of HPV-related Anal Carcinoma

Fresh off Modern Pathology, Lab.Equipment has curated this noteworthy Histopath industry article just for you:

Rare reports of anal carcinoma (AC) describe histologic resemblance to cutaneous cylindroma, but mutations in the tumor suppressor CYLD, the gene responsible for familial and sporadic cylindromas, have not been systematically investigated in AC. Here, we investigate CYLD-mutant AC, focusing on molecular correlates of distinct histopathology. Comprehensive genomic profiling (hybrid-capture-based DNA sequencing) was performed on 574 ACs, of which 75 unique cases (13%) harbored a CYLD mutation. Clinical data, pathology reports, and histopathology were reviewed for each CYLD-mutant case. The spectrum of CYLD mutations included truncating (n = 50; 67%), homozygous... More of this in the Modern Pathology Blog.

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