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.

doi:10.1016/j.jfma.2020.08.034

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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.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Apr 2021

Wang Wei-Hao, Lu Meng-Yao, Tsai Cheng-Hong, Wang Shih-Chung, Chou Shu-Wei, Jou Shiann-Tarng

Abstract excerpt

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)...

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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.

Abstract excerpt

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