The double deceit generated by an insertion mechanism in chronic myeloid leukemia with t(9;9;22)

Albano, Francesco; Zagaria, Antonella; Anelli, Luisa; Pannunzio, Alessandra; Manodoro, Floriana; Coccaro, Nicoletta; Rossi, Antonella Russo; Liso, Vincenzo; Rocchi, Mariano; Specchia, Giorgina

doi:10.1007/s00277-008-0511-y

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“…Out of the 452 CP-CML cases, 50 showed variant t(9;22) or additional chromosomal rearrangements, 9 of which have been characterized in previous reports by our group [19-23]. …”

Section: Methodsmentioning

confidence: 95%

Non random distribution of genomic features in breakpoint regions involved in chronic myeloid leukemia cases with variant t(9;22) or additional chromosomal rearrangements

et al. 2010

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BackgroundThe t(9;22)(q34;q11), generating the Philadelphia (Ph) chromosome, is found in more than 90% of patients with chronic myeloid leukemia (CML). As a result of the translocation, the 3' portion of the ABL1 oncogene is transposed from 9q34 to the 5' portion of the BCR gene on chromosome 22 to form the BCR/ABL1 fusion gene. At diagnosis, in 5-10% of CML patients the Ph chromosome is derived from variant translocations other than the standard t(9;22).ResultsWe report a molecular cytogenetic study of 452 consecutive CML patients at diagnosis, that revealed 50 cases identifying three main subgroups: i) cases with variant chromosomal rearrangements other than the classic t(9;22)(q34;q11) (9.5%); ii) cases with cryptic insertions of ABL1 into BCR, or vice versa (1.3%); iii) cases bearing additional chromosomal rearrangements concomitant to the t(9;22) (1.1%). For each cytogenetic group, the mechanism at the basis of the rearrangement is discussed.All breakpoints on other chromosomes involved in variant t(9;22) and in additional rearrangements have been characterized for the first time by Fluorescence In Situ Hybridization (FISH) experiments and bioinformatic analyses. This study revealed a high content of Alu repeats, genes density, GC frequency, and miRNAs in the great majority of the analyzed breakpoints.ConclusionsTaken together with literature data about CML with variant t(9;22), our findings identified several new cytogenetic breakpoints as hotspots for recombination, demonstrating that the involvement of chromosomes other than 9 and 22 is not a random event but could depend on specific genomic features. The presence of several genes and/or miRNAs at the identified breakpoints suggests their potential involvement in the CML pathogenesis.

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“…Out of the 452 CP-CML cases, 50 showed variant t(9;22) or additional chromosomal rearrangements, 9 of which have been characterized in previous reports by our group [19-23]. …”

Section: Methodsmentioning

confidence: 95%