Mismatch repair protein loss in cutaneous head and neck squamous cell carcinoma

Kartik Vasan; Sunaina Anand; Laveniya Satgunaseelan; Rebecca Asher; Hubert Low; Carsten E Palme; Jenny H Lee; Jonathan R Clark; Ruta Gupta

doi:10.1002/jso.26218

Mismatch repair protein loss in cutaneous head and neck squamous cell carcinoma

J Surg Oncol. 2020 Dec;122(8):1755-1760. doi: 10.1002/jso.26218. Epub 2020 Sep 14.

Authors

Kartik Vasan^{1

2}, Sunaina Anand³, Laveniya Satgunaseelan³, Rebecca Asher², Hubert Low^{1

2}, Carsten E Palme², Jenny H Lee⁴, Jonathan R Clark^{1

2

5}, Ruta Gupta^{1

2

3}

Affiliations

¹ Central Clinical School, University of Sydney, Sydney, Australia.
² Sydney Head and Neck Cancer Institute, Chris O'Brien Lifehouse, Sydney, Australia.
³ Department of Medical Oncology, Chris O'Brien Lifehouse, Sydney, Australia.
⁴ NSW Health Pathology, Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Sydney, Australia.
⁵ Royal Prince Alfred Institute of Academic Surgery, Sydney Local Health District, Sydney, Australia.

PMID: 32926758
DOI: 10.1002/jso.26218

Abstract

Background: The treatment of advanced cutaneous head and neck cutaneous squamous cell carcinomas (HNcSCC) results in significant morbidity. Recently, immune checkpoint inhibitor treatment has been approved for DNA mismatch repair (MMR) deficient patients in a histology-agnostic manner. This study aims to evaluate the incidence of MMR deficiency in advanced HNcSCC and its association with clinicopathologic factors.

Methods: The cohort included 176 consecutive HNcSCC cases treated with curative intent. Immunohistochemistry for MMR proteins (hMLH1, hMSH2, hMSH6, and hPMS2) was performed. Clinicopathological and survival data was collected prospectively.

Results: The incidence of MMR protein deficiency was 9.1%. There was no association between age, incidence of metachronous malignancies, clinicopathological factors, or survival outcomes.

Conclusion: A higher incidence of MMR deficiency was observed in this cohort of advanced HNcSCC. The lack of association with young age at onset or increased incidence of metachronous malignancies suggests that MMR deficiency is likely to be sporadic in HNcSCC.

Keywords: MLH1; MSH2; MSH6; PMS2; cutaneous head and neck squamous cell carcinoma; mismatch repair; nonmelonma skin cancer.

MeSH terms

Aged
Australia / epidemiology
Biomarkers, Tumor / metabolism*
Brain Neoplasms / epidemiology*
Brain Neoplasms / metabolism
Brain Neoplasms / pathology
Colorectal Neoplasms / epidemiology*
Colorectal Neoplasms / metabolism
Colorectal Neoplasms / pathology
DNA Mismatch Repair*
DNA Repair Enzymes / metabolism*
Female
Follow-Up Studies
Humans
Incidence
Male
Neoplastic Syndromes, Hereditary / epidemiology*
Neoplastic Syndromes, Hereditary / metabolism
Neoplastic Syndromes, Hereditary / pathology
Prognosis
Prospective Studies
Retrospective Studies
Skin Neoplasms / complications*
Squamous Cell Carcinoma of Head and Neck / complications*
Survival Rate

Substances

Biomarkers, Tumor
DNA Repair Enzymes

Supplementary concepts

Turcot syndrome