1. Diagnostic utility of IDH1/2 mutations to distinguish dedifferentiated chondrosarcoma from undifferentiated pleomorphic sarcoma of bone.
- Author
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Chen S, Fritchie K, Wei S, Ali N, Curless K, Shen T, Brini AT, Latif F, Sumathi V, Siegal GP, and Cheng L
- Subjects
- Adult, Aged, Aged, 80 and over, Bone Neoplasms enzymology, Bone Neoplasms pathology, Chondrosarcoma enzymology, Chondrosarcoma pathology, Diagnosis, Differential, England, Female, Genetic Predisposition to Disease, Humans, Immunohistochemistry, Male, Middle Aged, Osteosarcoma enzymology, Osteosarcoma pathology, Phenotype, Polymerase Chain Reaction, Predictive Value of Tests, Reagent Kits, Diagnostic, United States, Biomarkers, Tumor genetics, Bone Neoplasms genetics, Cell Differentiation, Chondrosarcoma genetics, DNA Mutational Analysis, Isocitrate Dehydrogenase genetics, Mutation, Osteosarcoma genetics
- Abstract
Histologically, it is nearly impossible to distinguish the dedifferentiated component of dedifferentiated chondrosarcoma from undifferentiated pleomorphic sarcoma (UPS) of bone when the low-grade cartilaginous component is absent. Previous studies have revealed that isocitrate dehydrogenase 1 (IDH1) and IDH2 mutations are present in a significant number of cartilaginous tumors including most conventional chondrosarcomas and dedifferentiated chondrosarcomas. These mutations have not been studied in UPSs of bone. We sought to investigate whether an IDH1 or IDH2 mutation signature could be used as a clinically diagnostic marker for the distinction of dedifferentiated component of chondrosarcoma from UPS of bone. Sixty-eight bone tumor cases, including 31 conventional chondrosarcomas, 23 dedifferentiated chondrosarcomas, and 14 UPSs of bone, were collected for IDH1/2 mutation analysis either using the Qiagen IDH1/2 RGQ PCR Kit or using whole-exome sequencing. IDH1/2 mutations were detected in 87% (20/23) of dedifferentiated chondrosarcomas and 30% (6/20) of conventional chondrosarcomas. No mutations were detected in the IDH1/2 codon 132 or codon 172 among 14 UPSs of bone. Identification of IDH1 or IDH2 mutations supports the diagnosis of dedifferentiated chondrosarcoma rather than UPS of bone while also providing some insight into the pathogenesis of these 2 lesions., (Copyright © 2017 Elsevier Inc. All rights reserved.)
- Published
- 2017
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