title: Abrupt evolution of Philadelphia chromosome-positive acute myeloid leukemia in myelodysplastic syndrome.
abstract: Myelodysplastic syndrome (MDS) is a clonal disorder arising from an alteration in multipotent stem cells, which lose the ability of normal proliferation and differentiation. Disease progression occurs in approximately 30% MDS cases. Specific chromosomal alterations seem responsible for each step in the evolution of acute myeloid leukemia (AML). Multiple genetic aberrations occur during the clonal evolution of MDS; however, few studies report the presence of the Philadelphia (Ph) chromosome. We report a rare case of Ph-positive AML, which evolved during the course of low-risk MDS. The patient, a 76-year-old man with mild leukocytopenia, was diagnosed with MDS, refractory neutropenia (RN). After 1.5 yr, his peripheral blood and bone marrow were suddenly occupied by immature basophils and myeloblasts, indicating the onset of AML. A bone marrow smear showed multilineage dysplasia, consistent with MDS evolution. Chromosomal analysis showed an additional t(9;22)(q34;q11) translocation. Because progression occurred concurrently with emergence of the Ph chromosome, we diagnosed this case as Ph-positive AML with basophilia arising from the clonal evolution of MDS. The patient was initially treated with nilotinib. A hematological response was soon achieved with disappearance of the Ph chromosome in the bone marrow. Emergence of Ph-positive AML in the course of low-risk MDS has rarely been reported. We report this case as a rare clinical course of MDS.
authors.affiliation: Kitano Hospital The Tazuke Kofukai Medical Research Institute, Osaka, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Fukunaga
authors.forename: Hiroto
authors.initials: H
authors.lastname: Sakoda
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Iwamoto
authors.forename: Shojiro
authors.initials: S
authors.lastname: Inano
authors.forename: Yuki
authors.initials: Y
authors.lastname: Sueki
authors.forename: Soshi
authors.initials: S
authors.lastname: Yanagida
authors.forename: Nobuyoshi
authors.initials: N
authors.lastname: Arima
mesh_terms: D059786:Abnormal Karyotype; D000368:Aged; D000970:Antineoplastic Agents / Q000494:pharmacology / Q000627:therapeutic use; D001853:Bone Marrow / Q000473:pathology*; D060965:Clonal Evolution; D018450:Disease Progression; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008297:Male; D009190:Myelodysplastic Syndromes / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D010677:Philadelphia Chromosome; D011743:Pyrimidines / Q000494:pharmacology / Q000627:therapeutic use
chemical_list: D000970:Antineoplastic Agents; D011743:Pyrimidines; C498826:nilotinib