title: RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome.
abstract: In this study, we report the molecular cytogenetic characterization of an acute myeloid leukemia with a der(Y)t(Y;1)(q12;q25) in bone marrow cells in a child with Klinefelter syndrome. Conventional cytogenetics demonstrated the unbalanced translocation, i.e., a trisomic 1q25-qter juxtaposed to Yq12 replaced the terminal segment of chromosome Y was acquired and present only on bone marrow cells. Fluorescence in situ hybridization showed that the breakpoint at 1q25 disrupted RABGAP1L, a strongly expressed gene in CFU-GEMM, erythroid cells, and megakaryocytes, while the Yq12 breakpoint fell within the heterochromatic region. As der(Y)t(Y;1)(q12;q25) was an isolated cytogenetic change, RABGAP1L rearrangement as well as gene(s) dosage effects correlated to 1q25-qter trisomy, and Yq12-qter loss may make a major contribution to leukemogenesis and/or disease progression.
authors.affiliation: Cytogenetics and Molecular Genetics, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Roberti
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.forename: Cecilia
authors.initials: C
authors.lastname: Surace
authors.forename: Pietro
authors.initials: P
authors.lastname: Sirleto
authors.forename: Rita Maria
authors.initials: RM
authors.lastname: Pinto
authors.forename: Valentina
authors.initials: V
authors.lastname: Pierini
authors.forename: Barbara
authors.initials: B
authors.lastname: Crescenzi
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
authors.forename: Adriano
authors.initials: A
authors.lastname: Angioni
mesh_terms: D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y / Q000235:genetics*; D020690:GTPase-Activating Proteins / Q000235:genetics*; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007713:Klinefelter Syndrome / Q000150:complications* / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000150:complications* / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*
chemical_list: D020690:GTPase-Activating Proteins; D009419:Nerve Tissue Proteins; C500479:RABGAP1L protein, human