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
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.