5q- in a child with refractory anemia with excess blasts: similarities to 5q- syndrome in adults.
A 19-month-old boy was referred to our institution because of chronic macrocytic anemia and severe thrombocytopenia. At age 17 months, he had developed petechiae. He had a leukocyte count of 4.4 x 10(9)/L, hemoglobin concentration of 7.9 g/dL, packed cell volume of 21%, mean corpuscular volume of 101 fL, and platelet count of 19 x 10(9)/L. At the time of referral, a bone marrow aspirate and biopsy revealed myelodysplastic changes that included megakaryocytic hyperplasia with hypolobated megakaryocytes, megaloblastoid erythropoiesis, 12% blast cells, and bone marrow fibrosis; the diagnosis was refractory anemia with excess blasts (RAEB). Cytogenetic analysis showed the following abnormalities: 47, XY, inv(3)(p21q25), del(5)(q22q31), +21/46, XY. By dinucleotide polymorphism analysis, the 5q22-q31 loci were normal in peripheral blood granulocytes. Because of severe thrombocytopenia that became refractory to platelet transfusions and because of possible progression to leukemia, the patient received an unrelated-donor bone marrow transplant. Recovery was complicated by a visceral fungal infection, but the patient now has normal, fully reconstituted bone marrow function. This patient is the youngest to be reported with RAEB and a 5q- anomaly accompanied by thrombocytopenia, megakaryocytic hyperplasia with hypolobated megakaryocytes, and macrocytic anemia with megaloblastoid erythropoiesis, similar to "5q- syndrome" in adults.
Antillón
F
F
Department of Hematology-Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Raimondi
S C
SC
Fairman
J
J
Liang
H
H
Nagarajan
L
L
Head
D
D
Ribeiro
R C
RC
D000753:Anemia, Refractory / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D016026:Bone Marrow Transplantation; D002869:Chromosome Aberrations / Q000235:genetics*; D007446:Chromosome Inversion; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D007223:Infant; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics / Q000473:pathology / Q000628:therapy