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

Atypical influence of biomechanical knowledge in Complex Regional Pain Syndrome-towards a different perspective on body representation

Abstract Part of the multifaceted pathophysiology of Complex Regional Pain Syndrome (CRPS) is ascribed to lateralized maladaptive neuroplasticity in sensorimotor cortices, corroborated by behavioral studies indicating that patients present difficulties in mentally representing their painful limb. Such difficulties are widely measured with hand laterality judgment tasks (HLT), which are also used in the rehabilitation of CRPS to activate motor imagery and restore the cortical representation of the painful limb. The potential of these tasks to elicit motor imagery is critical to their use in therapy, yet, the influence of the body’s biomechanical constraints (BMC) on HLT reaction time, supposed to index motor imagery activation, is rarely verified. Here we investigated the influence of BMC on the perception of hand postures and movements in upper-limb CRPS. Patients were slower than controls in judging hand laterality, whether or not stimuli corresponded to their painful hand. Reaction time patterns reflecting BMC were mostly absent in CRPS and controls. A second experiment therefore directly investigated the influence of implicit knowledge of BMC on hand movement judgments. Participants judged the perceived path of movement between two depicted hand positions, with only one of two proposed paths that was biomechanically plausible. While the controls mostly chose the biomechanically plausible path, patients did not. These findings show non-lateralized body representation impairments in CRPS, possibly related to difficulties in using correct knowledge of the body’s biomechanics. Importantly, they demonstrate the challenge of reliably measuring motor imagery with the HLT, which has important implications for the rehabilitation with these tasks

The value of interphase fluorescence in situ hybridization for the detection of translocation t(12;21) in childhood acute lymphoblastic leukemia.

Translocation t(12;21)(p13;q22) is the most frequent cytogenetic abnormality in childhood acute lymphoblastic leukemia (ALL) and is generally associated with favorable prognosis. In this report, we assessed the value of dual-color interphase fluorescence in situ hybridization (FISH) for the detection of t(12;21). Fifty-three patients were screened for ETV6/CBFA2 fusion by means of FISH, using two cosmid probes mapped on ETV6 and on CBFA2, respectively. The cut-off value (mean + three standard deviations) for positivity established on control patients was 9.3%. A comparison between FISH and molecular methods [reverse-transcriptase polymerase chain reaction/Southern blot (RT-PCR/SB)] was possible in 52 patients: 34 of 52 (65.4%) showed negative results with both approaches, and 13 of 52 (25%) were positive; 5 of 52 (9.6%) showed discrepancies: four patients who were positive using RT-PCR/SB were negative using FISH. Conversely, one patient negative when using RT-PCR/SB was positive with FISH. Further investigations on this patients, cytogenetically characterized by add(12p), showed an atypical breakpoint on ETV6, located 5' to the common breakpoint. Compared with RT-PCR and SB, dual-color interphase FISH with the cosmid probe set proved to be highly specific but showed limited sensitivity.Journal ArticleResearch Support, Non-U.S. Gov'tinfo:eu-repo/semantics/publishe