Updating the classification of hematologic neoplasia with germline predisposition, pediatric
myelodysplastic syndrome (MDS), and juvenile myelomonocytic leukemia (JMML) is critical …

Myelodysplastic syndrome (MDS) typically presents in older adults with the acquisition of
age-related somatic mutations, whereas MDS presenting in children and younger adults is …

Standardized variant curation is essential for clinical care recommendations for patients with
inherited disorders. Clinical Genome Resource (ClinGen) variant curation expert panels are …

First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a
well-established cause of familial platelet disorder with predisposition to myeloid …

The inclusion of familial myeloid malignancies as a separate disease entity in the revised
WHO classification has renewed efforts to improve the recognition and management of this …

Recognition that germline mutations can predispose individuals to blood cancers, often
presenting as secondary leukemias, has largely been driven in the last 20 years by studies …

RUNX1 is mutated in∼ 10% of adult acute myeloid leukemia (AML). Although most RUNX1
mutations in this disease are believed to be acquired, they can also be germline. Indeed …

Abstract The International Consensus Classification (ICC) of myeloid neoplasms and acute
leukemia has updated the classification of myelodysplastic syndromes (MDSs) and placed …

Myeloid malignancies associated with germline predisposition syndromes account for up to
10% of myeloid neoplasms. They are classified into three categories by the proposed 5th …

Introduction: Historically, the majority of childhood cancers, including acute lymphoblastic
leukemia (ALL), were not thought to have a hereditary basis. However, recent germline …