Scientific Letters
Vol. 18 No. 1 (2026): Mediterranean Journal of Hematology and Infectious Diseases
A novel germline JAK2 splice-site variant causing exon 10 skipping in a patient with clinically diagnosed essential thrombocythemia and early-onset tophaceous gout: a case report
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Published: October 31, 2026
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Triple-negative essential thrombocythemia (ET) lacks canonical driver mutations, and its molecular basis remains largely undefined. A 26-year-old man presented with early-onset tophaceous gout and persistent thrombocytosis. Screening for JAK2 V617F, CALR and MPL was negative; extended sequencing identified a novel JAK2 splice-site variant (c.1326+2T>A), and RT-PCR confirmed complete exon 10 skipping, generating a truncated transcript predicted to retain the FERM domain—a configuration resembling recently reported germline JAK2 drivers of hereditary thrombocythemia.
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Ethics Approval
This study was approved by the Institutional Ethics Committee of Jinan University (Approval No. JNUECKY-20260720-133). All procedures involving human participants were conducted in accordance with local laws, institutional guidelines, and the Declaration of Helsinki. Written informed consent was obtained from all participants for both study participation and the potential publication of the data included in this article.Supporting Agencies
This study was supported in part by Science and Technology Project in Guangzhou (Nos. 202102070001; 2025A04J3702); the Fundamental Research Funds for the Central Universities (No. 21625210), and the Jinan University-Pu Hua Joint Laboratory Construction Project (No. JNUC-2025-0456).How to Cite
“A novel germline JAK2 splice-site variant causing exon 10 skipping in a patient with clinically diagnosed essential thrombocythemia and early-onset tophaceous gout: a case report” (2026) Mediterranean Journal of Hematology and Infectious Diseases, 18(1), p. e2026083. doi:10.4084/MJHID.2026.083.
Copyright (c) 2026 Xun Zhu, Yaomei Long, Liye Zhong, Xiuli Wu, Ling Xu, Jie Wu
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
