title: 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.
abstract: This review article deals with the analysis and the detection of the morphological features associated with somatic mutations, mostly BRAFV600E 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.
authors.affiliation: Division of Anatomic Pathology and Histology, Università Cattolica del Sacro Cuore, "Agostino Gemelli" School of Medicine, Rome, Italy.
authors.forename: Esther Diana
authors.initials: ED
authors.lastname: Rossi
authors.affiliation: Division of Anatomic Pathology and Histology, Università Cattolica del Sacro Cuore, "Agostino Gemelli" School of Medicine, Rome, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Martini
authors.affiliation: Division of Anatomic Pathology and Histology, Università Cattolica del Sacro Cuore, "Agostino Gemelli" School of Medicine, Rome, Italy.
authors.forename: Tommaso
authors.initials: T
authors.lastname: Bizzarro
authors.affiliation: Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal.|Department of Medicine and Pathology, Laboratoire National de Santé, Luxembourg.
authors.forename: Fernando
authors.initials: F
authors.lastname: Schmitt
authors.affiliation: Department of Pathology, Laboratory of Medical Investigation, University of São Paulo School of Medicine, Brazil.|Life and Health Sciences Research Institute, School of Health Sciences, University of Minho, Braga, Portugal.|ICVS/3B's, PT Government Associate Laboratory, Braga/Guimarães, Portugal.|Molecular Oncology Research Center, Barretos Cancer Hospital, Pio XII Foundation, Barretos, Brazil.
authors.forename: Adhemar
authors.initials: A
authors.lastname: Longatto-Filho
authors.affiliation: Division of Anatomic Pathology and Histology, Università Cattolica del Sacro Cuore, "Agostino Gemelli" School of Medicine, Rome, Italy.
authors.forename: Luigi Maria
authors.initials: LM
authors.lastname: Larocca
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D001706:Biopsy; D003062:Codon; D003581:Cytodiagnosis; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics / Q000378:metabolism
chemical_list: D003062:Codon; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF mutation; Warburg effect; glycolysis; plump eosinophilic cell