• J Formos Med Assoc · Apr 2021

    Case Reports

    A child with juvenile myelomonocytic leukemia possessing a concurrent germline CBL mutation and a NF1 variant of uncertain significance: A rare case with a common problem in the era of high-throughput sequencing.

    • Wei-Hao Wang, Meng-Yao Lu, Cheng-Hong Tsai, Shih-Chung Wang, Shu-Wei Chou, and Shiann-Tarng Jou.
    • Department of Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan; Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan.
    • J Formos Med Assoc. 2021 Apr 1; 120 (4): 1148-1152.

    AbstractGenetic changes in juvenile myelomonocytic leukemia (JMML) determine distinct subtypes, treatments, and outcomes. JMML with germline CBL mutation and somatic NRAS mutation possibly achieves spontaneous remission, but hematopoietic stem cell transplantation is indicated for other subtypes of JMML. We hereby report a child with JMML harboring a germline CBL mutation (c.1111T>C) and an NF1 variant (c.3352A>G) concurrently. After evaluation, we considered that the NF1 variant was not the major contributor. After one year of observation, this case had no signs of disease progression. This case highlights the importance of combining available evidence and clinical findings in caring for patients with unusual genomic variations.Copyright © 2020. Published by Elsevier B.V.

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