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Article

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

1
Skin Cancer Center, Department of Dermatology, Ruhr-University Bochum, 44791 Bochum, Germany
2
Institute of Pathology, Ruhr-University Bochum, 44789 Bochum, Germany
3
Translational Skin Cancer Research, German Cancer Consortium (DKTK) Partner Site Essen/Düsseldorf, Department of Dermatology, University Duisburg-Essen, 47057 Essen, Germany
4
Translational Skin Cancer Research, DKTK Site Essen, ED03, Deutsches Krebsforschungszentrum (DKFZ), 69120 Heidelberg, Germany
5
Institute for Prevention and Occupational Medicine of the German Social Accident Insurances, Ruhr-University Bochum (IPA), 44789 Bochum, Germany
*
Author to whom correspondence should be addressed.
Curr. Oncol. 2021, 28(5), 3316-3322; https://doi.org/10.3390/curroncol28050287
Received: 15 June 2021 / Revised: 19 August 2021 / Accepted: 24 August 2021 / Published: 27 August 2021
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. View Full-Text
Keywords: non-melanoma skin cancer; cutaneous squamous cell carcinoma; actinic keratosis; mismatch repair deficiency; microsatellite instability non-melanoma skin cancer; cutaneous squamous cell carcinoma; actinic keratosis; mismatch repair deficiency; microsatellite instability
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MDPI and ACS Style

Gambichler, T.; Ganjuur, N.; Tannapfel, A.; Vogt, M.; Scholl, L.; Abu Rached, N.; Bruckmüller, S.; Skrygan, M.; Becker, J.C.; Käfferlein, H.U.; Brüning, T.; Lang, K. Mismatch Repair Protein Expression and Microsatellite Instability in Cutaneous Squamous Cell Carcinoma. Curr. Oncol. 2021, 28, 3316-3322. https://doi.org/10.3390/curroncol28050287

AMA Style

Gambichler T, Ganjuur N, Tannapfel A, Vogt M, Scholl L, Abu Rached N, Bruckmüller S, Skrygan M, Becker JC, Käfferlein HU, Brüning T, Lang K. Mismatch Repair Protein Expression and Microsatellite Instability in Cutaneous Squamous Cell Carcinoma. Current Oncology. 2021; 28(5):3316-3322. https://doi.org/10.3390/curroncol28050287

Chicago/Turabian Style

Gambichler, Thilo, Nomun Ganjuur, Andrea Tannapfel, Markus Vogt, Lisa Scholl, Nessr Abu Rached, Stefanie Bruckmüller, Marina Skrygan, Jürgen C. Becker, Heiko U. Käfferlein, Thomas Brüning, and Kerstin Lang. 2021. "Mismatch Repair Protein Expression and Microsatellite Instability in Cutaneous Squamous Cell Carcinoma" Current Oncology 28, no. 5: 3316-3322. https://doi.org/10.3390/curroncol28050287

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