Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2024 Sep 10:14:1448213.
doi: 10.3389/fonc.2024.1448213. eCollection 2024.

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

María Camila Cubides-Córdoba #  1 , Paula Sánchez-Fernández #  1 , Guillermo E Mendoza-Pacas  2 , Virginia N Cabal  3 , Rocío García-Marín  3 , Sara Lucila Lorenzo-Guerra  3 , Fabián García-Velasco  4 , Mario A Hermsen  3 , José Luis Llorente  1
Affiliations
Case Reports

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

María Camila Cubides-Córdoba et al. Front Oncol. .

Abstract

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: HPV-related multiphenotypic carcinoma; basaloid tumor; case report; sinonasal cancer; whole exome sequencing.

PubMed Disclaimer

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Preoperative (A–C) and postoperative (D–F) coronal T1 (A, D) and T2 (B, C, E, F) MRI images.
Figure 2
Figure 2
Histology (Hematoxylin and Eosin) and some of the most relevant immunohistochemical stains. Magnification x20.
Figure 3
Figure 3
Other of the most important stains. Magnification x20.
Figure 4
Figure 4
Copy number analysis: A high-level gain is observed at 6q23.
See this image and copyright information in PMC

References

    1. Bishop JA, Ogawa T, Stelow EB, Moskaluk CA, Koch WM, Pai SI, et al. . Human papillomavirus-related carcinoma with adenoid cystic-like features: a peculiar variant of head and neck cancer restricted to the sinonasal tract. Am J Surg Pathol. (2013) 37:836–44. doi: 10.1097/PAS.0b013e31827b1cd6 - DOI - PMC - PubMed
    1. Bishop JA, Andreasen S, Hang JF, Bullock MJ, Chen TY, Franchi A, et al. . HPV-related multiphenotypic sinonasal carcinoma: an expanded series of 49 cases of the tumor formerly known as HPV-related carcinoma with adenoid cystic carcinoma-like features. Am J Surg Pathol. (2017) 41:1690–701. doi: 10.1097/PAS.0000000000000944 - DOI - PMC - PubMed
    1. WHO Classification of Tumours Editorial Board. Head and neck tumours. 5th ed Vol. 9. Lyon (France: International Agency for Research on Cancer; (2022). Available at: https://tumourclassification.iarc.who.int/chapters/52.
    1. Bishop JA, Westra WH. Human papillomavirus-related multiphenotypic sinonasal carcinoma: An emerging tumor type with a unique microscopic appearance and a paradoxical clinical behaviour. Oral Oncol. (2018) 87:17–20. doi: 10.1016/j.oraloncology.2018.10.011 - DOI - PubMed
    1. Ward ML, Kernig M, Willson TJ. HPV-related multiphenotypic sinonasal carcinoma: A case report and literature review. Laryngoscope. (2021) 131:106–10. doi: 10.1002/lary.28598 - DOI - PubMed

Publication types

LinkOut - more resources