Myelodysplastic syndromes (MDSs) are clonal hematopoietic disorders characterized by peripheral cytopenia, ineffective hematopoiesis, and an increased risk of progression to acute myeloid leukemia (AML). Although sporadic MDS is primarily a disease of the elderly with an incidence of more than 36 per 100 000 in patients age 80 years or older,1 MDS in children (ie, patients age 18 years or younger) is a rare disease with an annual incidence of 1 to 4 cases per million
These guidelines were established and agreed upon by the EWOG-MDS HSCT Board during a Consensus Conference on October 25/26th 2016 in Freiburg, Germany. They were modified
for presence of constitutional syndromes in August 2017.
Astute clinicians have reported familial clustering of myelodysplastic syndrome (MDS) and acute leukemia (AL; MDS/AL) for decades.1 These physicians often described phenotypic features that are now known to be associated with specific genetically defined hereditary myeloid malignancy syndromes (HMMSs).2Why, then, is the diagnosis of HMMS only now starting to be considered in the evaluation of the average adult patient with MDS/AL?
Fanconi anemia (FA) is the most frequent genetic cause of bone marrow failure (BMF).1 More than 18 FA genes have been identified, with FANCA, FANCC, FANCG, and FANCD2 being the most frequently involved in patients.2-4 The natural history of FA is marked by progressive marrow failure during early childhood, and the diagnosis is frequently done at this stage using the chromosome breakage test in blood
Summary: One of the most common hematologic malignancies in adults, myelodysplastic syndrome (MDS) is a heterogenous group of clonal disorders characterized by peripheral cytopenia(s) and normal or hypercellular bone marrow with dysplasia in Z1 blood cell lineages. MDS frequently evolves to secondary acute myeloid leukemia with poor prognosis. Although uncommon among pediatric hematologic malignancies, both de novo and secondary MDS occur in children and may be the first presentation of an inherited bone marrow failure syndrome. Unlike its adult counterpart, pediatric MDS is more frequently associated with hypocellular bone marrow and monosomy 7. Refractory cytopenia is
more typical than refractory anemia, as seen in the elderly. Its recognition and management can be quite challenging and requires the expertise of an experienced hematopathologist. In this review, we describe the epidemiology, genetics, and clinical spectrum of pediatric MDS along with its diagnostic and therapeutic challenges. We also compare and contrast pediatric and adult MDS
The appropriate classification of hypoplastic BM disorders in young patients continues to be a great challenge. Accurate diagnosis is the prerequisite for medical and genetic counseling, surveillance, and therapy options for these children and adolescents. Because most patients with BM failure will require allogeneic hematopoietic stem cell transplantation (HSCT), the timing of the procedure, choice of donor, preparative regimen, and estimation of complications will
greatly differ among the various disease entities.