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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.
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  • Wei-Hao Wang,
  • Meng-Yao Lu,
  • Cheng-Hong Tsai,
  • Shih-Chung Wang,
  • Shu-Wei Chou,
  • Shiann-Tarng Jou
Wei-Hao Wang
National Taiwan University Hospital
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Meng-Yao Lu
National Taiwan University Hospital
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Cheng-Hong Tsai
National Taiwan University Hospital
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Shih-Chung Wang
Changhua Christian Medical Foundation Changhua Christian Hospital
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Shu-Wei Chou
National Taiwan University Hospital
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Shiann-Tarng Jou
National Taiwan University Hospital
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Abstract

Genetic 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 the NF1 variant 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 patients with unusual genomic variations.