Dataset Information

CYLD mutation characterizes a subset of HPV-positive head and neck squamous cell carcinomas with distinctive genomics and frequent cylindroma-like histologic features.

ABSTRACT: Mutations in the tumor suppressor CYLD, known to be causative of cylindromas, were recently described in a subset of high-risk (hr) HPV-positive head and neck squamous cell carcinomas (HNSCC). Pathologic and genetic characterization of these CYLD-mutant carcinomas, however, remains limited. Here, we investigated whether CYLD mutations characterize a histopathologically and genomically distinct subset of hrHPV-positive HNSCC. Comprehensive genomic profiling via hybrid capture-based DNA sequencing was performed on 703 consecutive head and neck carcinomas with hrHPV sequences, identifying 148 unique cases (21%) harboring CYLD mutations. Clinical data, pathology reports, and histopathology were reviewed. CYLD mutations included homozygous deletions (n?=?61/148; 41%), truncations (n?=?52; 35%), missense (n?=?26; 18%) and splice-site (n?=?9; 6%) mutations, and in-frame deletion (n?=?1; 1%). Among hrHPV-positive HNSCC, the CYLD-mutant cohort showed substantially lower tumor mutational burden than CYLD-wildtype cases (n?=?555) (median 2.6 vs. 4.4?mut/Mb, p?

SUBMITTER: Williams EA

PROVIDER: S-EPMC7817524 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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CYLD mutation characterizes a subset of HPV-positive head and neck squamous cell carcinomas with distinctive genomics and frequent cylindroma-like histologic features.

Williams Erik A EA Montesion Meagan M Alexander Brian M BM Ramkissoon Shakti H SH Elvin Julia A JA Ross Jeffrey S JS Williams Kevin Jon KJ Glomski Krzysztof K Bledsoe Jacob R JR Tse Julie Y JY Mochel Mark C MC

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 20200905 2

Mutations in the tumor suppressor CYLD, known to be causative of cylindromas, were recently described in a subset of high-risk (hr) HPV-positive head and neck squamous cell carcinomas (HNSCC). Pathologic and genetic characterization of these CYLD-mutant carcinomas, however, remains limited. Here, we investigated whether CYLD mutations characterize a histopathologically and genomically distinct subset of hrHPV-positive HNSCC. Comprehensive genomic profiling via hybrid capture-based DNA sequencing ...[more]

PMID: 32892208

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Dataset Information

CYLD mutation characterizes a subset of HPV-positive head and neck squamous cell carcinomas with distinctive genomics and frequent cylindroma-like histologic features.

Publications

CYLD mutation characterizes a subset of HPV-positive head and neck squamous cell carcinomas with distinctive genomics and frequent cylindroma-like histologic features.

Similar Datasets

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