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 …

Children harboring certain germline gene variants have an increased risk of developing
myelodysplastic syndrome (MDS) and other hematopoietic malignancies (HM), such as …

Summary Thrombocytopenia 4 (THC4) is an autosomal‐dominant thrombocytopenia caused
by mutations in CYCS, the gene encoding cytochrome c (CYCS), a small haeme protein …

Myelodysplastic syndrome (MDS) occurring in pediatric patients has an incidence of 1-4 per
million live births and accounts for less than 5% of all pediatric hematologic malignancies 1 …

Recent advances in in-depth data-independent acquisition proteomic analysis have
enabled comprehensive quantitative analysis of> 10,000 proteins. Herein, an integrated …

While germline predisposition to myelodysplastic syndromes is well-established, knowledge
has advanced rapidly resulting in more cases of inherited hematologic malignancies being …

Simple Summary There are several rare types of hematologic malignancies and germline
predispositions syndromes in children and adolescent young adults. In this descriptive …

Introduction Investigation of the molecular basis of inherited bleeding disorders (IBD) is
mostly performed with gene panel sequencing. However, the continuous discovery of new …

Background Congenital neutropenias are characterized by severe infections and a high risk
of myeloid transformation; the causative genes vary across ethnicities. The Israeli population …

Inherited bone marrow failure syndromes (IBMFS) pose significant diagnostic challenges
due to overlapping symptoms and variable expressivity, despite evolving genomic insights …