Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome.
Aged
Carcinoma, Squamous Cell
/ genetics
Female
Genetic Testing
/ methods
High-Throughput Nucleotide Sequencing
/ methods
Humans
Male
Melanoma
/ genetics
Middle Aged
Muir-Torre Syndrome
/ genetics
MutS Homolog 2 Protein
/ genetics
Mutation
Receptor, Notch1
/ genetics
Receptor, Notch2
/ genetics
Sequence Analysis, DNA
/ methods
Skin Neoplasms
/ genetics
Tumor Suppressor Protein p53
/ genetics
Muir-Torre Syndrome
family history
molecular analysis
next-generation sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
20 05 2021
20 05 2021
Historique:
received:
16
04
2021
revised:
17
05
2021
accepted:
18
05
2021
entrez:
2
6
2021
pubmed:
3
6
2021
medline:
31
8
2021
Statut:
epublish
Résumé
We investigated the mutational landscape of skin tumors in patients with Muir-Torre Syndrome (MTS) a hereditary autosomal dominant mismatch repair disorder of increased cancer susceptibility, and examined mutations other than in the DNA mismatch repair (MMR) genes. This retrospective single-center case series included seven patients with the diagnosis of Muir-Torre Syndrome with precise medical history and family history. Mutational analysis of tumor samples Formalin-fixed paraffin-embedded tissue blocks of skin lesions associated with Muir-Torre Syndrome were used for further analysis. All skin tumors were analyzed with the Oncomine Comprehensive Assay v3 (Life Technologies), which includes 161 of the most relevant cancer driver genes. Eleven skin neoplasms (nine sebaceous tumors, one melanoma, one cutaneous squamous cell carcinoma) were diagnosed in seven patients. In two patients, visceral malignancies preceded the diagnosis of the skin tumors and one patient was diagnosed with a visceral malignancy after a sebaceous tumor. History of familial cancer of Lynch Syndrome (LS) was reported in three patients. The most frequently detected mutation was in the
Sections du résumé
BACKGROUND
We investigated the mutational landscape of skin tumors in patients with Muir-Torre Syndrome (MTS) a hereditary autosomal dominant mismatch repair disorder of increased cancer susceptibility, and examined mutations other than in the DNA mismatch repair (MMR) genes.
METHODS
This retrospective single-center case series included seven patients with the diagnosis of Muir-Torre Syndrome with precise medical history and family history. Mutational analysis of tumor samples Formalin-fixed paraffin-embedded tissue blocks of skin lesions associated with Muir-Torre Syndrome were used for further analysis. All skin tumors were analyzed with the Oncomine Comprehensive Assay v3 (Life Technologies), which includes 161 of the most relevant cancer driver genes.
RESULTS
Eleven skin neoplasms (nine sebaceous tumors, one melanoma, one cutaneous squamous cell carcinoma) were diagnosed in seven patients. In two patients, visceral malignancies preceded the diagnosis of the skin tumors and one patient was diagnosed with a visceral malignancy after a sebaceous tumor. History of familial cancer of Lynch Syndrome (LS) was reported in three patients. The most frequently detected mutation was in the
Identifiants
pubmed: 34065301
pii: genes12050781
doi: 10.3390/genes12050781
pmc: PMC8160778
pii:
doi:
Substances chimiques
NOTCH1 protein, human
0
NOTCH2 protein, human
0
Receptor, Notch1
0
Receptor, Notch2
0
TP53 protein, human
0
Tumor Suppressor Protein p53
0
MSH2 protein, human
EC 3.6.1.3
MutS Homolog 2 Protein
EC 3.6.1.3
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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