title: Molecular cytogenetic studies characterizing a novel complex karyotype with an uncommon 5q22 deletion in childhood acute myeloid leukemia.
abstract: Deletions in the long arm of chromosome 5 or loss of the whole chromosome are rare in childhood Acute Myeloid Leukemia (AML) patients. It is also unknown if the wide variety of breakpoints have diverging implications in the patient's outcome. Despite -5/5q- abnormalities have usually been described as a poor prognostic feature, however, the low frequency of -5/5q- in pediatric AML patients limits a full knowledge about this cytogenetic and clinical category, which is an intriguing factor for further research and new findings. Here, we report an AML child showing an uncommon deletion in 5q associated with 2 new abnormalities involving chromosome 2 within a complex karyotype well-characterized by several molecular cytogenetic approaches. Our work stimulates upcoming studies with more detailed descriptions about 5q abnormalities to better define its role in the stratification risk of such cytogenetic subgroup in childhood AML.
authors.affiliation: Bone Marrow Unit, Cytogenetics Department, National Cancer Institute, Rio de Janeiro, Brazil ; Post-Graduation Program in Oncology, National Cancer Institute, Rio de Janeiro, Brazil.
authors.forename: Amanda Faria
authors.initials: AF
authors.lastname: de Figueiredo
authors.affiliation: Bone Marrow Unit, Cytogenetics Department, National Cancer Institute, Rio de Janeiro, Brazil ; Post-Graduation Program in Oncology, National Cancer Institute, Rio de Janeiro, Brazil.
authors.forename: Roberto Rodrigues
authors.initials: RR
authors.lastname: Capela de Matos
authors.affiliation: Institute for Human Genetics, Jena University, Jena, Germany.
authors.forename: Moneeb A K
authors.initials: MA
authors.lastname: Othman
authors.affiliation: Institute for Human Genetics, Jena University, Jena, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.affiliation: Clinical Medicine Postgraduate Program, College of Medicine, Federal University, Rio de Janeiro, Brazil ; Martagão Gesteira Institute of Pediatrics and Child Development, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
authors.forename: Elaine Sobral
authors.initials: ES
authors.lastname: da Costa
authors.affiliation: Clinical Medicine Postgraduate Program, College of Medicine, Federal University, Rio de Janeiro, Brazil ; Martagão Gesteira Institute of Pediatrics and Child Development, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
authors.forename: Marcelo Geradin Poirot
authors.initials: MG
authors.lastname: Land
authors.affiliation: Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN USA.
authors.forename: Raul C
authors.initials: RC
authors.lastname: Ribeiro
authors.affiliation: Post-Graduation Program in Oncology, National Cancer Institute, Rio de Janeiro, Brazil ; Bone Marrow Unit, Stem Cell Department, National Cancer Institute, Rio de Janeiro, Brazil.
authors.forename: Eliana
authors.initials: E
authors.lastname: Abdelhay
authors.affiliation: Bone Marrow Unit, Cytogenetics Department, National Cancer Institute, Rio de Janeiro, Brazil ; Post-Graduation Program in Oncology, National Cancer Institute, Rio de Janeiro, Brazil.
authors.forename: Maria Luiza Macedo
authors.initials: ML
authors.lastname: Silva
keywords: Childhood AML; Complex karyotype; Uncommon deletion 5q22