Interrogation of cancer hotspot mutations in calcifying cystic odontogenic tumor
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Universidade Federal de Minas Gerais
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Artigo de periódico
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Resumo
To simultaneously interrogate in calcifying cystic odonto
genic tumor (CCOT) about 2,800 COSMIC mutations in a panel
of important oncogenes and tumor suppressor genes.
Study Design:
3 samples of CCOT were analyzed. It was
used the Ion AmpliSeq Cancer Hotspot Panel v2 to interrogate
mutations at 50 tumor suppressor genes and oncogenes by target
next generation sequencing on the Ion Personal Genome Machine
(PGM) System. Reads were aligned to genome (hg19), variants were
called using Ion Reporter Software and false variants were excluded
after assessment at the Integrative Genomics Viewer (IGV).
Results:
The only pathogenic mutation detected in 2 out
of 3 CCOT was in b-Catenin gene, CTNNB1 c.98C>T. This
mutation leads to substitution from serine to phenylalanine at
codon 33 of b-Catenin, resulting in its stabilization and oncogenic
activation. No other pathogenic mutation interrogated was
detected, including the recurrent mutations BRAFV600E,
recently described in ameloblastomas or KRASG12V, recently
described in adenomatoid odontogenic tumors.
Conclusion:
b-Catenin gene mutation persists as the
pivotal alteration reported in CCOTs. This study gives further
support to the concept that odontogenic tumors do not share a
common genetic event and each tumor type shows a specific
molecular profile.
Abstract
Assunto
Mutation, Genes, Odontogenic tumors, Odontogenic cyst, calcifying, Carcinogenesis
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https://www.oooojournal.net/article/S2212-4403(17)30692-2/fulltext