Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Mutational Profiles of Cutaneous Squamous Cell Carcinomas with Different Patterns of Clinical Aggression from Head and Neck District

Maria Colombino
,
Giuseppe Palmieri
* ORCID logo ,
Manuela Rodio
ORCID logo ,
Matilde Tettamanzi
,
Silvia Rampazzo
,
Raffaello Margani
,
Emilio Trignano
,
Antonio Cossu
,
Maria Antonietta Fedeli
,
Giovanni Maria Fadda
,
Corrado Rubino
ORCID logo
Version 1 : Received: 6 May 2024 / Approved: 7 May 2024 / Online: 8 May 2024 (09:17:25 CEST)

How to cite: Colombino, M.; Palmieri, G.; Rodio, M.; Tettamanzi, M.; Rampazzo, S.; Margani, R.; Trignano, E.; Cossu, A.; Fedeli, M. A.; Fadda, G. M.; Rubino, C. Mutational Profiles of Cutaneous Squamous Cell Carcinomas with Different Patterns of Clinical Aggression from Head and Neck District. Preprints 2024, 2024050417. https://doi.org/10.20944/preprints202405.0417.v1 Colombino, M.; Palmieri, G.; Rodio, M.; Tettamanzi, M.; Rampazzo, S.; Margani, R.; Trignano, E.; Cossu, A.; Fedeli, M. A.; Fadda, G. M.; Rubino, C. Mutational Profiles of Cutaneous Squamous Cell Carcinomas with Different Patterns of Clinical Aggression from Head and Neck District. Preprints 2024, 2024050417. https://doi.org/10.20944/preprints202405.0417.v1

Abstract

Cutaneous squamous cell carcinoma is a prevalent malignancy with a rising incidence and notably high mutational load. Exploring the genetic nuances of cSCC and investigating molecular approaches stands as a potential avenue for improving outcome in high-risk patients. This retrospective case-control study involved two cohorts of 14 patients (“discovery cohort”) and 12 patients (“validation cohort”) with cSCC located in head-neck anatomical district and diagnosed at pT2 stage. Overall, cases developed early local relapse of the disease whereas controls never re-lapsed during the entire follow-up period. Next generation sequencing (NGS) approach conducted on histological samples revealed that TP53 and CDKN2A were the most frequently mutated genes in our series. No specific mutation was identified as potential prognostic or therapeutic targets. Controls exhibited a tendency toward a higher mutational rate compared to cases. It is possible that an increased number of mutations could prompt the cSCC to expose more antigens, becoming more immunogenic and facilitating the recognition by the immune system. This could enhance and sustain immunological response, potentially preventing future recurrences.

Keywords

non-melanoma skin cancer; cutaneous squamous cell carcinoma (cSCC); recurrent cSCC; next generation sequencing (NGS); mutation profile; immunogenicity

Subject

Medicine and Pharmacology, Oncology and Oncogenics

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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