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

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

Content Provider	MDPI
Author	Stefanie, Bruckmüller Heiko, U. Käfferlein Thomas, Brüning Gambichler, Thilo Ganjuur, Nomun Tannapfel, Andrea Vogt, Markus Scholl, Lisa Rached, Nessr Abu Skrygan, Marina Becker, Jürgen C. Lang, Kerstin
Copyright Year	2021
Description	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.
Ending Page	3322
Page Count	7
Starting Page	3316
e-ISSN	17187729
DOI	10.3390/curroncol28050287
Journal	Current Oncology
Issue Number	5
Volume Number	28
Language	English
Publisher	MDPI
Publisher Date	2021-08-27
Access Restriction	Open
Subject Keyword	Current Oncology Dermatology Non-melanoma Skin Cancer Cutaneous Squamous Cell Carcinoma Actinic Keratosis Mismatch Repair Deficiency Microsatellite Instability
Content Type	Text
Resource Type	Article

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