Mismatch Repair Protein Expression and Microsatellite Instability in Cutaneous Squamous Cell Carcinoma

Current Oncology

Heiko U. Käfferlein¹  Kerstin Lang¹  Thomas Brüning¹  Andrea Tannapfel²  Markus Vogt²  Nomun Ganjuur³  Marina Skrygan³  Stefanie Bruckmüller³  Lisa Scholl³  Thilo Gambichler³  Nessr Abu Rached³  Jürgen C. Becker⁴ 

[1] Institute for Prevention and Occupational Medicine of the German Social Accident Insurances, Ruhr-University Bochum (IPA), 44789 Bochum, Germany;Institute of Pathology, Ruhr-University Bochum, 44789 Bochum, Germany;Skin Cancer Center, Department of Dermatology, Ruhr-University Bochum, 44791 Bochum, Germany;Translational Skin Cancer Research, German Cancer Consortium (DKTK) Partner Site Essen/Düsseldorf, Department of Dermatology, University Duisburg-Essen, 47057 Essen, Germany;

关键词: non-melanoma skin cancer;    cutaneous squamous cell carcinoma;    actinic keratosis;    mismatch repair deficiency;    microsatellite instability;   

DOI  :  10.3390/curroncol28050287

来源: DOAJ

【 摘 要 】

There exist relatively sparse and conflicting data on high-level microsatellite instability (MSI-H) and deficient mismatch repair (dMMR) in cutaneous malignancies. We aimed to determine the expression profiles of MMR proteins (MSH2, MSH6, MLH1, and PMS2) in different progression stages of cutaneous squamous cell carcinoma (cSCC, 102 patients in total) by immunohistochemistry, and search for MSI-H in patients with low-level MMR or dMMR using multiplex-PCR. Low-level MMR protein expression was observed in five patients: One patient with primary cSCC < 2 mm thickness and low-level MLH1, three patients with primary cSCC > 6 mm (including one with low-level MSH2, as well as MSH6 expression, and two with low-level PMS2), and one patient with a cSCC metastasis showing low-level MSH2 as well as MSH6. Intergroup protein expression analysis revealed that MLH1 and MSH2 expression in actinic keratosis was significantly decreased when compared to Bowen’s disease, cSCC < 2 mm, cSCC > 6 mm, and cSCC metastasis. In cases with low-level MMR, we performed MSI-H tests revealing three cases with MSI-H and one with low-level MSI-L. We found low-level MMR expression in a small subset of patients with invasive or metastatic cSCC. Hence, loss of MMR expression may be associated with tumour progression in a small subgroup of patients with non-melanoma skin cancer.

【 授权许可】

Unknown