title: Trisomy 21 and other chromosomal abnormalities in acute promyelocytic leukemia.
abstract: We describe a case of acute promyelocytic leukemia (APL) with t(15;17)(q22;q12) and trisomy 21 as an additional change in a patient who died at relapse after achieving complete remission (CR) for the duration of 20 months. A survey of 42 cases of APL with cytogenetic study performed at our institutionover the past 10 years showed 12 cases (28.6%) having chromosomal changes in addition to t(15;17). Trisomy 8 and trisomy 21 as additional changes were noted in 4 and 2 cases, respectively, with one patient showing both trisomies simultaneously. Two cases showed t(15;17) in hyperdiploid clones. Among the 10 patients with follow-up data, all eventually relapsed and none achieved continuous complete remission 1. Survival analysis performed in APL patients with adequate follow-up data showed no significant difference in overall and disease free survival between those with and without additional cytogenetic changes. After excluding cases with one induction death, the overall survival was significantly in favor of the group without additional cytogenetic abnormalities (P = 0.022). Late relapses may therefore be significantly more common in APL patients with additional cytogenetic abnormalities, and may not be reflected by analysis focused at three-year survival only. As APL is now considered a curable disease, any confirmed long-term survival impact of additional cytogenetic changes is expected to have important management implications.
authors.affiliation: Division of Hematology, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, People's Republic of China.
authors.forename: T S K
authors.initials: TS
authors.lastname: Wan
authors.forename: S K
authors.initials: SK
authors.lastname: Ma
authors.forename: W Y
authors.initials: WY
authors.lastname: Au
authors.forename: H S Y
authors.initials: HS
authors.lastname: Liu
authors.forename: J C W
authors.initials: JC
authors.lastname: Chan
authors.forename: L C
authors.initials: LC
authors.lastname: Chan
mesh_terms: D000293:Adolescent; D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15 / Q000648:ultrastructure; D002886:Chromosomes, Human, Pair 17 / Q000648:ultrastructure; D002891:Chromosomes, Human, Pair 21; D003645:Death, Sudden; D017809:Fatal Outcome; D005260:Female; D006723:Hong Kong / Q000453:epidemiology; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000188:drug therapy / Q000235:genetics* / Q000401:mortality; D008297:Male; D008875:Middle Aged; D011655:Pulmonary Embolism / Q000209:etiology; D012074:Remission Induction; D012189:Retrospective Studies; D016019:Survival Analysis; D014178:Translocation, Genetic; D014212:Tretinoin / Q000627:therapeutic use; D014314:Trisomy
chemical_list: D000970:Antineoplastic Agents; D014212:Tretinoin