scholarly journals Keratoacanthoma or cutaneous squamous cell carcinoma revealing a DNA mismatch repair default (Muir‐Torre Syndrome)

2021 ◽  
Vol 36 (S1) ◽  
pp. 74-76
Author(s):  
Y. Miao ◽  
F. Kolb ◽  
G. Tomasic ◽  
J. Lupu ◽  
E. Routier ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Mismatch Repair ◽  
Squamous Cell ◽  
Dna Mismatch Repair ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Dna Mismatch

Association between genetic polymorphisms in DNA mismatch repair-related genes with risk and prognosis of head and neck squamous cell carcinoma

2015 ◽  
Vol 137 (4) ◽  
pp. 810-818 ◽  
Author(s):  
Guilherme Augusto Silva Nogueira ◽  
Gustavo Jacob Lourenço ◽  
Camila Borges Martins Oliveira ◽  
Fernando Augusto Lima Marson ◽  
Leisa Lopes-Aguiar ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Mismatch Repair ◽  
Genetic Polymorphisms ◽  
Squamous Cell ◽  
Dna Mismatch Repair ◽  
Neck Squamous Cell Carcinoma ◽  
Dna Mismatch

Allelic imbalance at the DNA mismatch repair loci, hMSH2, hMLH1, hPMS1, hPMS2 and hMSH3, in squamous cell carcinoma of the head and neck

Oral Oncology ◽  
2003 ◽  
Vol 39 (2) ◽  
pp. 115-129 ◽  
Author(s):  
J. Nunn ◽  
S. Nagini ◽  
J.M. Risk ◽  
W. Prime ◽  
P. Maloney ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Mismatch Repair ◽  
Squamous Cell ◽  
Allelic Imbalance ◽  
Dna Mismatch Repair ◽  
Dna Mismatch

scholarly journals Genetic polymorphisms in DNA mismatch repair-related genes predict outcome in patients with head and neck squamous cell carcinoma treated with cisplatin and radiotherapy

2016 ◽  
Vol 27 ◽  
pp. vi343
Author(s):  
G.J. Lourenço ◽  
G.A.S. Nogueira ◽  
L. Lopes-Aguiar ◽  
E.F.D. Costa ◽  
T.R.P. Lima ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Mismatch Repair ◽  
Genetic Polymorphisms ◽  
Squamous Cell ◽  
Dna Mismatch Repair ◽  
Neck Squamous Cell Carcinoma ◽  
Dna Mismatch

scholarly journals Polymorphisms in DNA mismatch repair pathway genes predict toxicity and response to cisplatin chemoradiation in head and neck squamous cell carcinoma patients

Oncotarget ◽  
2018 ◽  
Vol 9 (51) ◽  
pp. 29538-29547 ◽  
Author(s):  
Guilherme Augusto Silva Nogueira ◽  
Ericka Francislaine Dias Costa ◽  
Leisa Lopes-Aguiar ◽  
Tathiane Regine Penna Lima ◽  
Marília Berlofa Visacri ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Mismatch Repair ◽  
Squamous Cell ◽  
Dna Mismatch Repair ◽  
Neck Squamous Cell Carcinoma ◽  
Repair Pathway ◽  
Dna Mismatch ◽  
Mismatch Repair Pathway

scholarly journals The Frequency of DNA Mismatch Repair Deficiency Is Very Low in Surgically Resected Lung Carcinoma

2021 ◽  
Vol 11 ◽  
Author(s):  
Naoki Yanagawa ◽  
Noriyuki Yamada ◽  
Ryo Sugimoto ◽  
Mitsumasa Osakabe ◽  
Noriyuki Uesugi ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Protein Expression ◽  
Microsatellite Instability ◽  
Cell Carcinoma ◽  
Mismatch Repair ◽  
Squamous Cell ◽  
Lung Carcinoma ◽  
The Other ◽  
Dna Mismatch ◽  
Mmr Deficiency

IntroductionDNA mismatch repair (MMR) deficiency leads to changes in the length of nucleotide repeat sequences of tumor DNA. In that situation, DNA replicational errors occur and accumulate during DNA replication. As a result, this mechanism frequently affects the coding regions of oncogenes and tumor suppressor genes and causes carcinogenesis. Recently, DNA MMR deficiency has been recognized as a predictive biomarker for immunotherapy. The aim of this study is to examine the frequency of DNA MMR deficiency and clinicopathological characteristics in surgically resected lung carcinoma (LC) and their correlation.MethodsA total of 1153 LCs were examined. Tissue microarrays were constructed. The status of MMR deficiency was evaluated by immunohistochemical analysis of MMR protein expression (hMLH1, hMSH2, hMSH6, and hPMS2). Microsatellite instability analysis, BRAF mutation, and MLH1 methylation analysis were performed for cases that showed MMR deficiency.ResultsOnly 2 of the 1153 cases (0.17%) showed a loss of hMLH1/hPMS2 protein expression. They also had high levels of microsatellite instability (MSI-H), had neither MLH1 promoter methylation nor BRAF mutation, and were male smokers. Histopathologically, one was a squamous cell carcinoma, and the other was combined small cell carcinoma with squamous cell carcinoma. Regarding PD-L1 protein expression, one had high expression, and the other had none.ConclusionThe frequency of MMR deficiency was very low in LC. However, our two cases were non-adenocarcinoma and differed from previous studies. Because of its very low frequency, MMR deficiency is not a practical biomarker to predict the effect of immune checkpoint inhibitors in LC.

Promoter Hypermethylation and Inactivation of hMLH1, a DNA Mismatch Repair Gene, in Head and Neck Squamous Cell Carcinoma

2003 ◽  
Vol 12 (1) ◽  
pp. 50-56 ◽  
Author(s):  
Kela Liu ◽  
Chunlai Zuo ◽  
Q. Kevin Luo ◽  
James Y. Suen ◽  
Ehab Hanna ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Mismatch Repair ◽  
Squamous Cell ◽  
Promoter Hypermethylation ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Dna Mismatch ◽  
Dna Mismatch Repair Gene

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

2021 ◽  
Vol 28 (5) ◽  
pp. 3316-3322
Author(s):  
Thilo Gambichler ◽  
Nomun Ganjuur ◽  
Andrea Tannapfel ◽  
Markus Vogt ◽  
Lisa Scholl ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Protein Expression ◽  
Microsatellite Instability ◽  
Cell Carcinoma ◽  
Mismatch Repair ◽  
Squamous Cell ◽  
Expression Profiles ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Small Subset ◽  
Low Level

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.

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