학술논문
Next generation sequencing in a cohort of patients with rare sarcoma histotypes: A single institution experience.
Document Type
Academic Journal
Author
Tirrò E; Center of Experimental Oncology and Hematology A.O.U. Policlinico 'G.Rodolico-San Marco', 95123 Catania, Italy; Department of Surgical, Oncological and Stomatological Sciences, University of Palermo, 90127 Palermo, Italy.; Martorana F; Center of Experimental Oncology and Hematology A.O.U. Policlinico 'G.Rodolico-San Marco', 95123 Catania, Italy; Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy. Electronic address: federica.martorana@phd.unict.it.; Micale G; Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.; Inzerilli N; Medical Oncology, A.O.U. Policlinico 'G. Rodolico - San Marco', 95123 Catania, Italy.; Carciotto R; Medical Oncology, A.O.U. Policlinico 'G. Rodolico - San Marco', 95123 Catania, Italy.; Romano C; Center of Experimental Oncology and Hematology A.O.U. Policlinico 'G.Rodolico-San Marco', 95123 Catania, Italy; Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.; Longhitano C; Medical Oncology, A.O.U. Policlinico 'G. Rodolico - San Marco', 95123 Catania, Italy.; Motta G; Medical Oncology, A.O.U. Policlinico 'G. Rodolico - San Marco', 95123 Catania, Italy.; Lanzafame K; Medical Oncology, A.O.U. Policlinico 'G. Rodolico - San Marco', 95123 Catania, Italy.; Stella S; Center of Experimental Oncology and Hematology A.O.U. Policlinico 'G.Rodolico-San Marco', 95123 Catania, Italy; Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.; Massimino M; Center of Experimental Oncology and Hematology A.O.U. Policlinico 'G.Rodolico-San Marco', 95123 Catania, Italy; Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.; Vitale SR; Center of Experimental Oncology and Hematology A.O.U. Policlinico 'G.Rodolico-San Marco', 95123 Catania, Italy; Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.; Salvatorelli L; Department of Medical and Surgical Sciences and Advanced Technologies, 'G. F. Ingrassia', Anatomic Pathology, University of Catania, 95123 Catania, Italy.; Magro G; Department of Medical and Surgical Sciences and Advanced Technologies, 'G. F. Ingrassia', Anatomic Pathology, University of Catania, 95123 Catania, Italy.; Manzella L; Center of Experimental Oncology and Hematology A.O.U. Policlinico 'G.Rodolico-San Marco', 95123 Catania, Italy; Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.; Vigneri P; Center of Experimental Oncology and Hematology A.O.U. Policlinico 'G.Rodolico-San Marco', 95123 Catania, Italy; Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy; Medical Oncology, A.O.U. Policlinico 'G. Rodolico - San Marco', 95123 Catania, Italy.
Source
Publisher: Gustav Fischer Verlag Country of Publication: Germany NLM ID: 7806109 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1618-0631 (Electronic) Linking ISSN: 03440338 NLM ISO Abbreviation: Pathol Res Pract Subsets: MEDLINE
Subject
Language
English
Abstract
Sarcomas are mesenchymal-derived cancers with overlapping clinical and pathologic features and a remarkable histological heterogeneity. While a precise diagnosis is often challenging to achieve, systemic treatment of sarcomas is still quite uniform. In this scenario, next generation sequencing (NGS) may be exploited to assist diagnosis and to identify specific targetable alterations. However, the precise role of genomic characterization in these diseases is still debated. In the present study, we analyzed 18 samples from 11 low-incidence sarcomas using NGS technology. We also used an in-silico prediction tool to reclassify variants of unknown significance and then looked for potentially druggable alterations to match with targeted therapies. Our cohort presented several predictable findings (e.g. MYC amplification in radio-induced angio-sarcoma, COL1A1-PDGFB rearrangements in dermatofibrosarcoma protuberans) along with unexpected results (e.g. the reciprocal WT1-EWSR1 fusion in a desmoplastic small round cell tumor). One third of patients (6/18) displayed at least one actionable molecular alterations. Our experience confirms the potential role of NGS in the management of rare sarcomas. This tool may support the diagnostic process, but also detect targets for personalized therapies.
(Copyright © 2022 Elsevier GmbH. All rights reserved.)
(Copyright © 2022 Elsevier GmbH. All rights reserved.)