Skip to main content

CASE REPORT article

Front. Oncol.
Sec. Head and Neck Cancer
Volume 14 - 2024 | doi: 10.3389/fonc.2024.1448213
This article is part of the Research Topic Understanding and Treating Rare Nasal and Paranasal Sinus Cancers View all 4 articles

Whole exome sequencing of human papillomavirus-related multiphenotypic sinonasal carcinoma: a case report

Provisionally accepted
María C. Cubides Córdoba María C. Cubides Córdoba 1Paula Sánchez-Fernández Paula Sánchez-Fernández 1*Guillermo E. Mendoza-Pacas Guillermo E. Mendoza-Pacas 2Virginia N. Cabal Virginia N. Cabal 3Rocío G. Marín Rocío G. Marín 3Sara L. Lorenzo-Guerra Sara L. Lorenzo-Guerra 3Fabián García-Velasco Fabián García-Velasco 4Mario A. Hermsen Mario A. Hermsen 3José L. Llorente José L. Llorente 1
  • 1 Department of Otorhinolaryngology and Head and Neck Surgery, Central University Hospital of Asturias, Oviedo, Spain
  • 2 Department of Pathological Anatomy, Central University Hospital of Asturias, Oviedo, Spain
  • 3 Department of Head and Neck Cancer, Funding for Biosanitary Investigation and Innovation of the Principality of Asturias, Oviedo, Spain
  • 4 Department of Otorhinolaryngology and Head and Neck Surgery, Son Llatzer Hospital, Mallorca, Spain

The final, formatted version of the article will be published soon.

    Human Papillomavirus (HPV) related Multiphenotypic Sinonasal Carcinoma (HMSC) is a rare tumor with features of both atypical squamous cell and adenoid cystic carcinoma, making diagnosis challenging. Approximately 80% of HMSC cases carries HPV type 33 followed by type 35. We present a patient with HMSC.Pathological classification was aided by immunohistochemistry (IHC). The presence of HPV-DNA was tested using PCR and HPV E6/E7 expression by RNA in situ hybridization (RNA ISH). Whole exome sequencing (WES) was used to identify somatic gene mutations and copy number alterations.A 55-year-old male presented with an HMSC in the right nostril. Histological examination showed a solid basaloid subtype with mucinous spaces and ductal structures. IHC showed positive staining for SOX-10, SMA, p40, p63, PanCK, CK8 and MYB. Diffuse positive staining for p16 was observed and PCR and RNA ISH indicated the presence of HPV type 35. The patient was treated with endoscopic surgery and radiotherapy and is currently alive and recurrence-free after 16 months of follow-up.WES revealed 38 somatic sequence variants and several chromosomal regions with copy number alterations, including a copy number gain at 6q23 where MYB is located. EP300, ZNF22, ZNF609 and LRIG3 are some of the genes whose mutations were indicated as probably pathogenic. We did not find mutations predictive for drug response according to the ESMO Scale for Clinical Actionability of Molecular Targets database. This is the first report of WES analysis of an HMSC, in this case associated with HPV type 35. The detected mutation in EP300 and the overexpression of MYB may serve as molecular targets for personalized therapy.

    Keywords: sinonasal cancer, HPV-related Multiphenotypic Carcinoma, basaloid tumor, whole exome sequencing, case report

    Received: 12 Jun 2024; Accepted: 30 Jul 2024.

    Copyright: © 2024 Cubides Córdoba, Sánchez-Fernández, Mendoza-Pacas, Cabal, Marín, Lorenzo-Guerra, García-Velasco, Hermsen and Llorente. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Paula Sánchez-Fernández, Department of Otorhinolaryngology and Head and Neck Surgery, Central University Hospital of Asturias, Oviedo, Spain

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.