title: Cytogenetic abnormalities and monosomal karyotypes in children and adolescents with acute myeloid leukemia: correlations with clinical characteristics and outcome.
abstract: The whole spectrum of chromosomal abnormalities and their prognostic significance in children and adolescents with acute myeloid leukemia (AML) has not been fully elucidated yet, although a considerable amount of knowledge has been gained recently. Moreover, the incidence and prognostic impact of monosomal karyotypes (MKs), which are new cytogenetic categories reported recently in adults with AML, are currently unknown for childhood and adolescent AML. In this study, we investigated the cytogenetic and clinical characteristics of 140 children and adolescents (≤21 y) with AML, and correlated their cytogenetic features with both the clinical characteristics and outcomes of our patient cohort. The most frequent cytogenetic abnormality found in our study was the t(15;17), followed by the t(8;21). Striking differences in the genetic abnormalities and French-American-British subtypes were found among infants, children, and adolescents. Of 124 cases, 15 (12.1%) met the criteria of the MK definition, and 12 of the 15 MKs (80%) were complex karyotypes. Of 124 cases, 27 (21.8%) had cytogenetic abnormalities sufficient to be diagnosed as AML with myelodyspastic sydrome-related features. As expected, patients with the t(15;17) had the most favorable outcomes, whereas patients with 11q23 rearrangements and monosomy 7 had the worst outcomes. These data expand our knowledge by providing novel insights into the cytogenetic features and their correlations with clinical characteristics and outcomes in childhood and adolescent AML.
authors: Department of Cytogenetics, Laboratory of Health Physics and Enviromental Health, NCSR Demokritos Athens, Greece. pmanola@ipta.demokritos.gr
authors: Kalliopi N
authors: KN
authors: Manola
authors: Fotios
authors: F
authors: Panitsas
authors: Sophia
authors: S
authors: Polychronopoulou
authors: Aggeliki
authors: A
authors: Daraki
authors: Maria
authors: M
authors: Karakosta
authors: Cryssa
authors: C
authors: Stavropoulou
authors: Georgia
authors: G
authors: Avgerinou
authors: Emmanuel
authors: E
authors: Hatzipantelis
authors: Gabriel
authors: G
authors: Pantelias
authors: Constantina
authors: C
authors: Sambani
authors: Maria
authors: M
authors: Pagoni
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D015331:Cohort Studies; D006801:Humans; D007223:Infant; D053208:Kaplan-Meier Estimate; D059785:Karyotype; D007621:Karyotyping / Q000379:methods*; D004915:Leukemia, Erythroblastic, Acute / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D007947:Leukemia, Megakaryoblastic, Acute / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D007948:Leukemia, Monocytic, Acute / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D007951:Leukemia, Myeloid / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D015479:Leukemia, Myelomonocytic, Acute / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D015473:Leukemia, Promyelocytic, Acute / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D008297:Male; D009006:Monosomy; D011379:Prognosis; D014178:Translocation, Genetic; D016896:Treatment Outcome; D055815:Young Adult