Juvenile myelomonocytic leukemia (JMML) is a typically aggressive myeloid neoplasm of
childhood that is clinically characterized by overproduction of monocytic cells that can …

Myelodysplastic syndrome (MDS) is a heterogeneous, clonal hematological disorder
characterized by ineffective hematopoiesis, cytopenia, morphologic dysplasia, and …

Most cases of adult myeloid neoplasms are routinely assumed to be sporadic. Here, we
describe an adult familial acute myeloid leukemia (AML) syndrome caused by germline …

Clonal hematopoiesis of indeterminate potential (CHIP), also referred to as aging-related
clonal hematopoiesis, is defined as an asymptomatic clonal expansion of mutant mature …

Atypical chronic myeloid leukemia (aCML) shares clinical and laboratory features with CML,
but it lacks the BCR-ABL1 fusion. We performed exome sequencing of eight aCMLs and …

Here we report whole-exome sequencing of individuals with various myeloid malignancies
and identify recurrent somatic mutations in SETBP1, consistent with a recent report on …

Chronic myeloid malignancies are categorized to the three main categories
myeloproliferative neoplasms (MPNs), myelodysplastic syndromes (MDSs) and MDS/MPN …

The investigation of genetic forms of juvenile neurodegeneration could shed light on the
causative mechanisms of neuronal loss. Schinzel-Giedion syndrome (SGS) is a fatal …

In the 2008 WHO classification, chronic myeloid malignancies that share both
myelodysplastic and myeloproliferative features define the myelodysplastic …

SETBP1 is a potential epigenetic regulator whose hotspot mutations preventing proteasomal
degradation are recurrently detected in myeloid malignancies with poor prognosis. It is …