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Open Access 01-12-2023 | Chondrosarcoma | Research

IDH mutations in G2-3 conventional central bone chondrosarcoma: a mono institutional experience

Authors: Elisabetta Setola, S. Benini, A. Righi, G. Gamberi, E. Carretta, C. Ferrari, S. Avnet, E. Palmerini, G. Magagnoli, M. Gambarotti, P. L. Lollini, M. Cesari, S. Cocchi, A. Paioli, A. Longhi, K. Scotlandi, M. A. Laginestra, D. M. Donati, N. Baldini, T. Ibrahim

Published in: BMC Cancer | Issue 1/2023

Abstract

Background

Heterozygous isocitrate dehydrogenase (IDH) mutations occur in about half of conventional central bone chondrosarcomas (CCBC). Aim of this study was to assess the frequency and prognostic impact of IDH mutations in high grade CCBC patients.

Methods

64 patients with G2 and G3 CCBC were included. DNA extraction, PCR amplification of IDH1/2 exon 4s, and sequencing analysis with Sanger were performed.

Results

IDH mutations were detected in 24/54 patients (44%): IDH1 in 18, IDH2 in 4, and both IDH1/2 in 2 patients. The frequency of mutations was 37% in G2 vs. 69% in G3 (p = 0.039), and 100% in three Ollier disease associated chondrosarcoma. 5-year overall survival (OS) at 124 months (range 1-166) was 51%, with no significant difference based on the IDH mutational status: 61% in IDHmut vs. 44% in IDH wild type (IDHwt). The 5-year relapse free survival (RFS) was 33% (95% CI:10–57) for IDHmut vs. 57% (95%CI: 30–77) for IDHwt. Progression free survival (PFS) was 25% (95%CI:1–65) IDHmut vs. 16% (95%CI: 0.7–52) IDHwt. 55% (5/9) of IDHmut G2 became higher grade at the recurrence, as compared with 25% (3/12) of G2 IDHwt.

Conclusions

This study shows a higher frequency of IDH mutations in G3 CCBC as compared with G2. No significant differences in OS, RFS, and PFS by mutational status were detected. After relapse, a higher rate of G3 for IDH mutated CCBC was observed.

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Title: IDH mutations in G2-3 conventional central bone chondrosarcoma: a mono institutional experience
Authors: Elisabetta Setola
S. Benini
A. Righi
G. Gamberi
E. Carretta
C. Ferrari
S. Avnet
E. Palmerini
G. Magagnoli
M. Gambarotti
P. L. Lollini
M. Cesari
S. Cocchi
A. Paioli
A. Longhi
K. Scotlandi
M. A. Laginestra
D. M. Donati
N. Baldini
T. Ibrahim
Publication date: 01-12-2023
Publisher: BioMed Central
Keywords: Chondrosarcoma
Sarcoma
Published in: BMC Cancer / Issue 1/2023
Electronic ISSN: 1471-2407
DOI: https://doi.org/10.1186/s12885-023-11396-y

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