Myelodysplastic syndrome (MDS), is a group of heterogeneous disorders of hematopoietic stem cell colonies which is determined by incomplete hematopoiesis in one or more cell lines. The incidence increases with age and it has less been reported among patients under 50 years of age. The commonest form of MDS is sporadic, and familial occurrence of MDS is rare. Patients with familial MDS are young...

myelodysplastic syndrome (mds), is a group of heterogeneous disorders of hematopoietic stem cell colonies which is determined by incomplete hematopoiesis in one or more cell lines. the incidence increases with age and it has less been reported among patients under 50 years of age. the commonest form of mds is sporadic, and familial occurrence of mds is rare. patients with familial mds are young...

Familial occurrence of myelodysplasia (MDS) and/or acute myeloid leukaemia (AML) is rare but can provide a useful resource for the investigation of predisposing mutations in these myeloid malignancies. To date, examination of families with MDS/AML has lead to the detection of two culprit genes, RUNX1 and CEBPA. Germline mutations in RUNX1 result in familial platelet disorder with propensity to ...

Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic stem cell disorders characterized by dysplastic changes in the bone marrow, ineffective hematopoiesis resulting in cytopenias, and an increased risk of developing acute myeloid leukemia (AML). MDS is predominantly a sporadic disease that affects the elderly, with a median age of diagnosis of over 70 years, and gen...

Astute clinicians have reported familial clustering of myelodysplastic syndrome (MDS) and acute leukemia (AL; MDS/AL) for decades. These physicians often described phenotypic features that are now known to be associated with specific genetically defined hereditary myeloidmalignancy syndromes (HMMSs).Why, then, is the diagnosis of HMMS only now starting to be considered in the evaluation of the ...

Astute clinicians have reported familial clustering of myelodysplastic syndrome (MDS) and acute leukemia (AL; MDS/AL) for decades. These physicians often described phenotypic features that are now known to be associated with specific genetically defined hereditary myeloidmalignancy syndromes (HMMSs).Why, then, is the diagnosis of HMMS only now starting to be considered in the evaluation of the ...

A 50-year-old woman was diagnosed with acute myeloid leukemia (AML). She has history of thrombocytopenia for 25 years and a significant family history of thrombocytopenia, affecting her mother, siblings and their children, as well as her own children. Both her mother and maternal aunt died from myelodysplastic syndrome (MDS). Additional genetic analysis was performed and identified two heterozy...

Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic disorders characterized by ineffective hematopoiesis, bone marrow dysplasia, and peripheral cytopenias. Familial forms of MDS have traditionally been considered rare, especially in adults; however, the increasing availability of somatic and germline genetic analyses has identified multiple susceptibility loci. Bone marrow fa...

Myeloid neoplasms include myelodysplastic/ myeloproliferative neoplasms (MDS/MPN) and acute myeloid leukemia (AML). While majority of these disorders are still sporadic, it is becoming clear that a subset of them have a germline predisposition and is familial in nature. With the advancement and integration of molecular studies, it has been recognized that approximately 5-10% of hematological ma...

Myelodysplastic syndromes (MDS) are defined as stem cell disorders caused by various gene abnormalities. Recent analysis using next-generation sequencing has provided great advances in identifying relationships between gene mutations and clinical phenotypes of MDS. Gene mutations affecting RNA splicing machinery, DNA methylation, histone modifications, transcription factors, signal transduction...