title: Two cases showing clonal progression with full evolution from aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome to myelodysplastic syndromes and leukemia.
abstract: We report 2 paroxysmal nocturnal hemoglobinuria (PNH) patients who were initially diagnosed with aplastic anemia and sequentially developed PNH, myelodysplastic syndromes (MDS), and leukemia. Flow cytometry and cytogenetic analysis showed the initial appearance and expansion of PNH clones, gradual replacement of PNH clones by MDS clones with monosomy 7, and then expansion of MDS clones or their subclones with additional chromosomal abnormalities. In relation to these developments, expression increased of the Wilms' tumor gene WT1, a marker for leukemic progression. These patients not only shared bone marrow failure but also might have harbored a hematopoietic environment favorable for the emergence of abnormal clones leading to leukemogenesis.
authors.affiliation: Second Department of Internal Medicine, Kumamoto University School of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Ishihara
authors.forename: H
authors.initials: H
authors.lastname: Nakakuma
authors.forename: T
authors.initials: T
authors.lastname: Kawaguchi
authors.forename: S
authors.initials: S
authors.lastname: Nagakura
authors.forename: K
authors.initials: K
authors.lastname: Horikawa
authors.forename: M
authors.initials: M
authors.lastname: Hidaka
authors.forename: N
authors.initials: N
authors.lastname: Asou
authors.forename: H
authors.initials: H
authors.lastname: Mitsuya
mesh_terms: D000328:Adult; D000368:Aged; D000741:Anemia, Aplastic / Q000150:complications / Q000235:genetics / Q000473:pathology*; D019070:Cell Lineage; D002999:Clone Cells; D020732:Cytogenetic Analysis; D018450:Disease Progression; D005260:Female; D005434:Flow Cytometry; D016162:Genes, Wilms Tumor; D006457:Hemoglobinuria, Paroxysmal / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007938:Leukemia / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D008297:Male; D009190:Myelodysplastic Syndromes / Q000209:etiology / Q000235:genetics / Q000473:pathology*