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Rapid Communication | Open Access

Concurrent PIK3CA and IDH1 variants in facial infiltrating lipomatosis with intracranial lesions

Hongrui Chena,1Bin Suna,1Lizhen Wangb,1Lei ChangaZhang YuaWei GaoaYajing QiuaHui Chena( )Chen Huaa( )Xiaoxi Lina( )
Department of Plastic & Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
Department of Oral Pathology, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China

1 These authors contributed equally to this work.

Peer review under responsibility of Chongqing Medical University.

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References

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Thomas D, Wu M, Nakauchi Y, et al. Dysregulated lipid synthesis by oncogenic IDH1 mutation is a targetable synthetic lethal vulnerability. Cancer Discov. 2023;13(2):496-515.

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Liu Y, Fang B, Feng X, Jiang Y, Zeng Y, Jiang J. Mechanism of IDH1-R132H mutation in T cell acute lymphoblastic leukemia mouse model via the Notch1 pathway. Tissue Cell. 2022;74:101674.

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Carbonneau M, M Gagné L, Lalonde ME, et al. The oncometabolite 2-hydroxyglutarate activates the mTOR signalling pathway. Nat Commun. 2016;7:12700.

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Eschbacher KL, Ida CM, Johnson DR, et al. Diffuse gliomas of the brainstem and cerebellum in adults show molecular heterogeneity. Am J Surg Pathol. 2021;45(8):1082-1090.

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Wenger TL, Ganti S, Bull C, et al. Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth. Genet Med. 2022;24(11):2318-2328.

Genes & Diseases
Article number: 101324
Cite this article:
Chen H, Sun B, Wang L, et al. Concurrent PIK3CA and IDH1 variants in facial infiltrating lipomatosis with intracranial lesions. Genes & Diseases, 2025, 12(2): 101324. https://doi.org/10.1016/j.gendis.2024.101324

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Received: 06 November 2023
Published: 22 May 2024
© 2024 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

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