Belli C.,Institute Investigaciones Hematologicas Mariano R Castex Iihema |
Alu M.F.,Institute Investigaciones Hematologicas Mariano R Castex Iihema |
Alfonso G.,Servicio de Hematologia |
Bianchini M.,Institute Investigaciones Hematologicas Mariano R Castex Iihema |
Larripa I.,Institute Investigaciones Hematologicas Mariano R Castex Iihema
Cytogenetic and Genome Research | Year: 2011
Chronic myeloid leukemia (CML) is a clonal malignant disorder of a pluripotent hematopoietic stem cell characterized by the presence of a Philadelphia (Ph) chromosome. Less than 10% of patients present variant Ph chromosomes involving 1 or more additional chromosomes, other than chromosomes 9 and 22, with uncertain prognosis. There are mainly 1- or 2-step mechanisms proposed to explain the genesis of variant Ph chromosomes depending on whether the involved chromosomes are simultaneously broken and rejoined or if a standard t(9;22) occurs first. By combined standard cytogenetic and FISH analysis we detected a novel variant Ph translocation among chromosomes 9, 11 and 22 in a patient with CML without progression to an accelerated phase of the disease after 7 years, with the derivative chromosome 9 also having an acquired pericentric inversion. This novel case illustrates the use of FISH in metaphase to confirm a new rearrangement not previously described in variant Ph formation and that the present karyotype could have originated by a 1-step mechanism with 4 simultaneous breakages without deletion of ABL1. Copyright © 2011 S. Karger AG, Basel.