Cited by 116Bone Tumor Diagnosis and TreatmentsOsteoarthritis Treatment and MechanismsSarcoma Diagnosis and Treatment

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Mutant IDH is sufficient to initiate enchondromatosis in mice

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Hirata, Makoto, Sasaki, Masato, Cairns, Rob A., Inoue, Satoshi, Puviindran, Vijitha, Li, Wanda Y., Snow, Bryan E., Jones, Lisa D., Wei, Qingxia, Sato, Shingo, Tang, Yuning J., Nadesan, Puviindran, Rockel, Jason, Whetstone, Heather, Poon, Raymond, Weng, Angela, Gross, Stefan, Straley, Kimberly, Gliser, Camelia, Xu, Yingxia, Wunder, Jay, Mak, Tak W., Alman, Benjamin A.·2015·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.1424400112PMC PMC4352794

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Abstract

Enchondromas are benign cartilage tumors and precursors to malignant chondrosarcomas. Somatic mutations in the isocitrate dehydrogenase genes (IDH1 and IDH2) are present in the majority of these tumor types. How these mutations cause enchondromas is unclear. Here, we identified the spectrum of IDH mutations in human enchondromas and chondrosarcomas and studied their effects in mice. A broad range of mutations was identified, including the previously unreported IDH1-R132Q mutation. These mutations harbored enzymatic activity to catalyze α-ketoglutarate to d-2-hydroxyglutarate (d-2HG). Mice expressing Idh1-R132Q in one allele in cells expressing type 2 collagen showed a disordered growth plate, with persistence of type X-expressing chondrocytes. Chondrocyte cell cultures from these animals or controls showed that there was an increase in proliferation and expression of genes characteristic of hypertrophic chondrocytes with expression of Idh1-R132Q or 2HG treatment. Col2a1-Cre;Idh1-R132Q mutant knock-in mice (mutant allele expressed in chondrocytes) did not survive after the neonatal stage. Col2a1-Cre/ERT2;Idh1-R132 mutant conditional knock-in mice, in which Cre was induced by tamoxifen after weaning, developed multiple enchondroma-like lesions. Taken together, these data show that mutant IDH or d-2HG causes persistence of chondrocytes, giving rise to rests of growth-plate cells that persist in the bone as enchondromas.

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Authors: Hirata, M., Sasaki, M., Cairns, R. A., Inoue, S., Puviindran, V., Li, W. Y., Snow, B. E., Jones, L. D., Wei, Q., Sato, S., Tang, Y. J., Nadesan, P., Rockel, J., Whetstone, H., Poon, R., Weng, A., Gross, S., Straley, K., Gliser, C., Xu, Y., Wunder, J., Mak, T. W., & Alman, B. A.
Affiliations: Hospital for Sick Children (CA)
University Health Network (CA)
Duke University (US)
Agios Pharmaceuticals, Cambridge, MA 02139;
Agios Pharmaceuticals (United States) (US)
Chempartner, Shanghai 201203, China; and
Mount Sinai Hospital (CA)
ORCID: Hirata, Makoto
Cairns, Rob A.
Inoue, Satoshi
Li, Wanda Y.
Wei, Qingxia
Sato, Shingo
Tang, Yuning J.
Rockel, Jason
Poon, Raymond
Gliser, Camelia
Wunder, Jay
Mak, Tak W.
Alman, Benjamin A.
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2015-02-17
Volume: 112
Issue: 9
Pages: 2829-2834
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.1424400112
PMC: PMC4352794
OpenAlex: W2137307574
Cited by: 115
References: 39
Citations by year: 2026: 2 · 2025: 8 · 2024: 7 · 2023: 11 · 2022: 6 · 2021: 16 · 2020: 11 · 2019: 13 · 2018: 8 · 2017: 12 · 2016: 15 · 2015: 6
FWCI: 11.47
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.pnas.org/site/misc/userlicense.xhtml (vor)
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: HHS | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases (R0 AR066765 01)
Gouvernement du Canada | Canadian Institutes of Health Research (MOP 125884)
Topics: Health Sciences › Medicine › Orthopedics and Sports Medicine › Bone Tumor Diagnosis and Treatments
Health Sciences › Medicine › Rheumatology › Osteoarthritis Treatment and Mechanisms
Health Sciences › Medicine › Oncology › Sarcoma Diagnosis and Treatment
Keywords: enchondromatosis, isocitrate dehydrogenase, IDH2 mutation, 2-hydroxyglutarate, chondrosarcoma, growth plate, chondrocyte hypertrophy, type II collagen, conditional knock-in mice, tumor initiation, cartilaginous tumors
MeSH terms: Animals, Enchondromatosis, Glutarates, Humans, Isocitrate Dehydrogenase, Mice, Mutant Strains, Gene Expression Regulation, Enzymologic, Chondrocytes, Amino Acid Substitution, Mutation, Missense, Collagen Type II, Mice

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Mutant IDH is sufficient to initiate enchondromatosis in mice

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