title: AML-associated cytogenetic abnormalities (inv (16), del (16), t(8;21)) in patients with myelodysplastic syndromes.
abstract: Evidence suggests that prognosis in patients with myelodysplastic syndromes (MDS) or acute myelogenous leukemia (AML) depends more on karyotype than on formal classification as either MDS or AML according to the French-American-British (FAB) system. We provide further evidence of overlap between these two entities, reporting 4 patients who presented with either inv(16) (p13q22), del(16) (q22), or t(8;21) despite an FAB diagnosis of MDS rather than the diagnosis of AML with which these abnormalities are generally associated. In 3 patients, disease was relatively long-standing (3-10 months) prior to diagnosis, suggesting that the association between MDS and these cytogenetic abnormalities may not merely reflect a transient phenomenon. Two patients with inv(16) and the MDS subtype refractory anemia with excess blasts in transformation (RAEB-t) received AML-type chemotherapy as did a patient with t(8;21) and RAEB-t. All entered CR paralleling the high CR rate seen in patients with AML and these abnormalities. Our data support the concept that MDS and AML may be different manifestations of the same disease.
authors.affiliation: Department of Hematology, University of Texas M.D. Anderson Cancer Center, Houston 77030.
authors.forename: E
authors.initials: E
authors.lastname: Estey
authors.forename: J M
authors.initials: JM
authors.lastname: Trujillo
authors.forename: A
authors.initials: A
authors.lastname: Cork
authors.forename: S
authors.initials: S
authors.lastname: O'Brien
authors.forename: M
authors.initials: M
authors.lastname: Beran
authors.forename: H
authors.initials: H
authors.lastname: Kantarjian
authors.forename: M
authors.initials: M
authors.lastname: Keating
authors.forename: E J
authors.initials: EJ
authors.lastname: Freireich
authors.forename: S
authors.initials: S
authors.lastname: Stass
mesh_terms: D000293:Adolescent; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16; D002898:Chromosomes, Human, Pair 8; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics*; D012189:Retrospective Studies; D014178:Translocation, Genetic / Q000235:genetics*