Investigation of genetic alterations associated with relapse in @entity981 ( @entity981 ) may help to identify druggable targets for specific therapies. Early @entity11511 (ETP- @entity981 ) is a subtype of @entity981 with poor prognosis. Although the genetic landscape of ETP- @entity981 has been determined, genetic alterations related to the relapse of ETP- @entity981 have not been fully investigated. Here, we report the first @entity1 with relapsed pediatric ETP- @entity981 to exhibit a homozygous @entity7803 activating mutation, @entity68506 , caused by acquired @entity8882 ( @entity8882 ). Single nucleotide polymorphism array analysis revealed acquired @entity8882 (aUPD) at the 19p13.3-p12 locus only in @entity1778 cells at relapse. Sanger sequence of the @entity7803 gene, which was located at 19p13.1 and frequently mutated in ETP- @entity981 , was performed in paired @entity1778 samples to determine homozygous @entity7803 @entity68506 mutation only in relapsed @entity1778 cells. In contrast, @entity1778 cells at initial diagnosis harbored hemizygous @entity7803 @entity68506 mutation. Further, whole-exome sequencing revealed mutations in 18 genes only in relapsed samples, although none of these was recurrent in @entity981 . These findings suggest that aUPD at 19p13.1 is partly associated with relapse in this @entity1 . Pharmacological inhibition of @entity7803 may be therapeutic in such cases.

Identification of a homozygous @entity7803 XXXX mutation caused by acquired @entity8882 in a relapsed early @entity11511 @entity1 .

@entity1 :: ('9606', 'Species') :: ['patient'] @entity981 :: ('MESH:D054198', 'Disease') :: ['T-ALL', 'ALL', 'acute lymphoblastic leukemia'] @entity1778 :: ('MESH:D007938', 'Disease') :: ['leukemic'] @entity68506 :: ('p|SUB|V|674|A', 'ProteinMutation') :: ['V674A'] @entity7803 :: ('3718', 'Gene') :: ['JAK3'] @entity11511 :: ('MESH:D054218', 'Disease') :: ['T-cell precursor ALL'] @entity8882 :: ('MESH:D024182', 'Disease') :: ['UPD', 'uniparental disomy']
@entity68506 :: (p|SUB|V|674|A,ProteinMutation) :: ['V674A']
