[Mast cell leukemia evolved from RAEB-T (5q-syndrome) in a 12 year-old girl].
A 12-year-old, female 5q- syndrome case of refractory anemia with excess of blasts in transformation (RAEB-T) evolving to mast cell leukemia is described. This case was admitted because of general fatigue, when her peripheral blood count revealed anemia and leukocytosis with basophil-like cells. RAEB-T was diagnosed based on the laboratory findings of her peripheral blood and bone marrow aspiration, which revealed over 10% peripheral blast cells and dysmyelopoietic changes in all three lineages. Chromosomal analysis of the bone marrow cells showed 46, XX, 5q-. Six months later, the RAEB-T phase evolved to acute leukemia, despite prednisolone, vitamin D3, oxymetholone and low-dose cytosine arabinoside treatment. She had remarkable pancytopenia, hemorrhage, and hepatosplenomegaly, which were not responsive to daunomycin, enocitabine, etoposide, and 6-mercaptopurine, and eventually died. This case was unique in that her karyotype changed to normal; 46, XX, and her blast cells were mast cell lineage during the overt leukemic phase. Interestingly, some blasts were intermediate cells possessing the ultrastructural features typical of both basophils and mast cells.
Sugita
K
K
Department of Pediatrics, National Children's Hospital, Tokyo, Japan.
Kaneko
T
T
Sekine
Y
Y
Taguchi
N
N
Miyauchi
J
J
D000754:Anemia, Refractory, with Excess of Blasts / Q000235:genetics* / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D007946:Leukemia, Mast-Cell / Q000235:genetics* / Q000473:pathology; D013577:Syndrome