دورية أكاديمية
Are IDH1 R132 Mutations Associated With Poor Prognosis in Patients With Chondrosarcoma of the Bone?
| العنوان: | Are IDH1 R132 Mutations Associated With Poor Prognosis in Patients With Chondrosarcoma of the Bone? |
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| المؤلفون: | Trovarelli, Giulia, Sbaraglia, Marta, Angelini, Andrea, Bellan, Elena, Pala, Elisa, Belluzzi, Elisa, Pozzuoli, Assunta, Borga, Chiara, Dei Tos, Angelo Paolo, Ruggieri, Pietro |
| المساهمون: | Trovarelli, Giulia, Sbaraglia, Marta, Angelini, Andrea, Bellan, Elena, Pala, Elisa, Belluzzi, Elisa, Pozzuoli, Assunta, Borga, Chiara, Dei Tos, Angelo Paolo, Ruggieri, Pietro |
| سنة النشر: | 2024 |
| المجموعة: | Padua Research Archive (IRIS - Università degli Studi di Padova) |
| الوصف: | Background: Because chondrosarcomas vary widely in their behavior, and because anticipating their behavior based on histology alone can be challenging, genetic markers represent an appealing area of inquiry that may help us refine our prognostic approaches. Isocitrate dehydrogenase (IDH) mutations are involved in the pathogenesis of a variety of neoplasms, and recently, IDH1/2 mutations have been found in the tissue of benign cartilage tumors as well as in conventional chondrosarcomas and highly aggressive dedifferentiated chondrosarcomas. However, their association with patient survival is still controversial. Questions/purposes: (1) What proportion of patients with chondrosarcomas carry IDH mutations, and which IDH mutations can be found? (2) Are any specific IDH mutations associated with poorer overall survival, metastasis-free survival, or local recurrence-free survival? Methods: Between April 2017 and December 2022, we treated 74 patients for atypical cartilaginous tumors or chondrosarcomas in a musculoskeletal tumor referral center. Patients were considered potentially eligible for the present study if the histologic diagnosis was confirmed by two expert soft tissue and bone pathologists following the current WHO classification, complete preoperative imaging and follow-up data were available, surgical excision was performed by sarcoma orthopaedic surgeons directed by a team leader, and the minimum follow-up was 2 years after surgical treatment unless the patient died. Data including sex, age, diagnosis, grade, type of operation, local recurrence, metastasis, and oncologic follow-up were recorded. Forty-one patients (55%) were eligible for the study. For each patient, DNA was extracted and quantified from paraffin-embedded sections of tumor tissue, and the mutational status of IDH1 (codons 105 and 132) and IDH2 (codons 140 and 172) genes was assessed. Of those, 56% (23 of 41) of patients had adequate DNA for analysis of IDH mutations: 10 male and 13 female patients, with a median age of 59 years (range 15 ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/38170705; journal:CLINICAL ORTHOPAEDICS AND RELATED RESEARCH; https://hdl.handle.net/11577/3503141Test |
| DOI: | 10.1097/CORR.0000000000002960 |
| الإتاحة: | https://doi.org/10.1097/CORR.0000000000002960Test https://hdl.handle.net/11577/3503141Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.53C21847 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1097/CORR.0000000000002960 |
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