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

// Esther Diana Rossi 1,* , Maurizio Martini 1,* , Tommaso Bizzarro 1,* , Fernando Schmitt 2,3,* , Adhemar Longatto-Filho 4,5,6,7,* and Luigi Maria Larocca 1,* 1 Division of Anatomic Pathology and Histology, Universita Cattolica del Sacro Cuore, “Agostino Gemelli” School of Medicine, Rome, Italy 2 Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal 3 Department of Medicine and Pathology, Laboratoire National de Sante, Luxembourg 4 Department of Pathology, Laboratory of Medical Investigation, University of Sao Paulo School of Medicine, Brazil 5 Life and Health Sciences Research Institute, School of Health Sciences, University of Minho, Braga, Portugal 6 ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimaraes, Portugal 7 Molecular Oncology Research Center, Barretos Cancer Hospital, Pio XII Foundation, Barretos, Brazil * These authors have contributed equally to this work Correspondence to: Esther Diana Rossi, email: // Keywords : plump eosinophilic cell, Warburg effect, glycolysis, BRAF mutation Received : June 17, 2016 Accepted : October 03, 2016 Published : October 11, 2016 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 BRAF V600E 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.