This review article deals with the analysis and the detection of the morphological features associated with somatic mutations, mostly BRAF(V600E) mutation, on both cytological and histological samples of carcinomas. Few authors demonstrated that some architectural and specific cellular findings (i.e. polygonal eosinophilic cells defined as "plump cells" and sickle-shaped nuclei) are able to predict BRAF (V600E) mutation in both cytological and histological samples of papillary thyroid carcinoma (PTC) as well as in other carcinomas. In the current review article we evaluated the first comprehensive analysis of the morphological prediction of BRAFV600E and other somatic mutations in different malignant lesions with the description of the possible mechanisms beneath these morphologic features. The detection of predictive morphological features, mostly on FNAC, may add helpful information to the stratification of the malignant risk and personalized management of cancers. Additionally, the knowledge of the molecular mechanism of different oncogenic drivers can lead to the organ-specific triaging selection of cases and can provide significant insight for targeted therapies in different malignant lesions.

Somatic mutations in solid tumors: a spectrum at the service of diagnostic armamentarium or an indecipherable puzzle? The morphological eyes looking for BRAF and somatic molecular detections on cyto-histological samples

Martini, Maurizio;
2017-01-01

Abstract

This review article deals with the analysis and the detection of the morphological features associated with somatic mutations, mostly BRAF(V600E) mutation, on both cytological and histological samples of carcinomas. Few authors demonstrated that some architectural and specific cellular findings (i.e. polygonal eosinophilic cells defined as "plump cells" and sickle-shaped nuclei) are able to predict BRAF (V600E) mutation in both cytological and histological samples of papillary thyroid carcinoma (PTC) as well as in other carcinomas. In the current review article we evaluated the first comprehensive analysis of the morphological prediction of BRAFV600E and other somatic mutations in different malignant lesions with the description of the possible mechanisms beneath these morphologic features. The detection of predictive morphological features, mostly on FNAC, may add helpful information to the stratification of the malignant risk and personalized management of cancers. Additionally, the knowledge of the molecular mechanism of different oncogenic drivers can lead to the organ-specific triaging selection of cases and can provide significant insight for targeted therapies in different malignant lesions.
2017
Inglese
IMPACT JOURNALS LLC
8
2
3746
3760
15
Internazionale
Esperti anonimi
BRAF mutation; Warburg effect; glycolysis; plump eosinophilic cell; Amino Acid Substitution; Animals; Biopsy; Codon; Cytodiagnosis; DNA Mutational Analysis; Humans; Neoplasms; Proto-Oncogene Proteins B-raf; Genetic Predisposition to Disease; Mutation
info:eu-repo/semantics/article
Rossi, Esther Diana; Martini, Maurizio; Bizzarro, Tommaso; Schmitt, Fernando; Longatto-Filho, Adhemar; Larocca, Luigi Maria
14.a Contributo in Rivista::14.a.1 Articolo su rivista
6
262
none
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11570/3231084
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