Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies

Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus. In total, three subgroups were identified: balanced translocations (N = 27) and telomeric rearrangements (N = 15), both mainly observed in myeloid disorders; and unbalanced non-telomeric rearrangements (N = 39), mainly observed in lymphoid proliferations and frequently associated with a highly complex karyotype. The 1p36 rearrangement was isolated in 12 cases, mainly myeloid disorders. The breakpoints on 1p36 were more widely distributed than previously reported, but with identifiable rare breakpoint cluster regions, such as the TP73 locus. We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1. We precised the common terminal 1p36 deletion, which has been suggested to have an adverse prognosis, in B-cell lymphomas [follicular lymphomas and diffuse large B-cell lymphomas with t(14;18)(q32;q21) as well as follicular lymphomas without t(14;18)]. Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements. It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis

Sister chromatid exchanges in human peripheral blood lymphocytes after ingestion of high doses of arsenicals

Objective-To evaluate the cytogenetic effects following the ingestion of high doses of arsenicals. Methods - Determination of the mean sister chromatid exchange (SCE) frequency and the population of high-frequency cells (HFC, cells with a high SCE frequency) in the peripheral blood lymphocytes in four patients who ingested 150 mg KAsO2, 1 g, 10 g and 20 g As2O3 respectively. Results-Doses of 10 g and 20 g significantly increased the HFC frequency and produced a shift in the distribution of the cells in accordance with the number of SCEs. The mean frequency of SCEs/cell was affected only after the highest dose (20 g). Conclusion-These results strongly suggest that cytogenetic methods are inappropriate for biomonitoring people occupationally exposed to arsenicals

Translocation (8q-; 21q+) avec perte du chromosome Y dans les leucémies myeloblastiques aiguës de l'enfant.

[Translocation (8q-; 21q+) with loss of chromosome Y in acute myeloblastic leukemia in children]