Massive parallel sequencing of head and neck conventional squamous cell carcinomas: A comprehensive review - UTU Research Portal

A2 Refereed review article in a scientific journal

Massive parallel sequencing of head and neck conventional squamous cell carcinomas: A comprehensive review

Authors: Nadal, Alfons; Cardesa, Antonio; Agaimy, Abbas; Almangush, Alhadi; Franchi, Alessandro; Hellquist, Henrik; Leivo, Ilmo; Zidar, Nina; Ferlito, Alfio

Publisher: Springer Science and Business Media LLC

Publishing place: NEW YORK

Publication year: 2024

Journal: Virchows Archiv

Journal name in source: Virchows Archiv

Journal acronym: VIRCHOWS ARCH

Volume: 485

First page : 965

Last page: 976

Number of pages: 12

ISSN: 0945-6317

eISSN: 1432-2307

DOI: https://doi.org/10.1007/s00428-024-03987-2

Web address : https://doi.org/10.1007/s00428-024-03987-2

Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/477224008

Abstract

Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide and is a cause of significant mortality and morbidity. The epidemiology of this cancer varies worldwide due to either genetic differences in populations or differences in carcinogen exposure. The application of massive parallel sequencing-based techniques in HNSCC should provide a helpful understanding of the genetic alterations that eventually lead to HNSCC development and progression, and ideally, could be used for personalized therapy. In this review, the reader will find an overview of the mutational profile of conventional HNSCC according to published results on massive parallel sequencing data that confirm the pivotal role of TP53 and the frequent involvement of CDKN2A and PIK3CA. The reader will also find a more detailed description of the genes, such as NOTCH1 and FBXW7, that were not identified in HNSCCs before the development of these techniques, the differences that can be site-specific, such as the different mutational signatures that indicate specific carcinogens for various subsites of the head and neck, and finally, the actionability of these findings that should allow more personalized therapy for patients.

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s00428-024-03987-2.pdf

Funding information in the publication:
Open Access funding provided thanks to the CRUE-CSIC agreement with Springer Nature.