Biomedical subjects
Publications and source records attributed to A Bernheim.
The effects of levamisole on human chromosomes have been studied using lymphocyte cultures. A slight excess of chromatid and chromosome breaks and gaps was observed in both in vitro and in vivo studies. An excess of SCE was observed in vivo but not in vitro when similar levamisole concentrations were used.
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A case of trisomy 6p21 leads to 6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomalies might have been due to partial 2p monosomy. Comparison with seven other cases of trisomy 6p allowed the delineation of a clinical entity. Direct proof of the localization of HLA genes was given by the presence of three haplotypes in the index patient.
Cytogenetic and enzyme studies of a child trisomic for 6p and monosomic for band 2p25 are reported. A tentative assignment of the ACP1 gene locus to band 2p25 is suggested by a 50% decrease in red cell acid phosphatase activity.
Two cases of infantile acute lymphoblastic leukaemia, Burkitt type, are reported. The cytogenetic study revealed a translocation t(8;14) similar to that of Burkitt's lymphoma. This chromosomal rearrangement is considered as a further argument which favours uniqueness of the two diseases.
Three cases of a new variety of acute leukemia have been reported. The main features were: hyperleukocytosis made of large-sized blasts with a double shaped nucleus, few or no granulations in the cytoplasm, and in a few cell faggots or unique Auer rods; mycloperoxydase reaction was positive. This feature was associated with disseminated intravascular coagulation syndrome and t(15;17)(q22;q21) translocation in the majority of mitoses.
A t(8;22)(q24;q11) translocation was found in blood, bone marrow, and ascites cells from a European Burkitt's lymphoma. Cell surface markers were identified as monoclonal IgG. The relationship between these two unusual findings is questionable in this cytologically typical Burkitt's lymphoma.
Cytogenetic findings on five patients with ALL Burkitt's type are reported. A t(8;14) (q23;q32) translocation identical to that found in Burkitt's lymphoma cells was found in each case. The relationship between ALL, L3 type and Burkitt's tumours is discussed.
A detailed gene marker study was performed on a partial 6p trisomic child resulting from a balanced maternal translocation t (2;6) (p 2505; p2105). HLA typing and mixed lymphocyte reaction showed that the breakpoint on chromosome 6 was located within the HLA gene cluster, allowing an accurate location of the D determinants. Localization of the P blood group locus within the region 6 p 2105 to 6 p ter was excluded.
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The chromosomes of an Epstein-Barr virus-negative European Burkitt's lymphoma cell line were studied. All the cells carried the t(8;14) translocation. One clone had 51 chromosomes and was (+1,+7,+16,+15,+21), whereas another clone also had 51 chromosomes but was (+1q+,+7,+16,+15,+21). A third clone had 46 chromosomes (4q+/-).
Seven acute promyelocytic leukemias (APL) were compared with three atypical acute myeloblastic leukemias (AML). These three AML were characterized by high hyperleukocytosis, mostly formed of monocytelike myeloblasts, disseminated intravascular coagulation syndrome, and a t (15;17) translocation in the majority of leukemic cell mitoses. This translocation was inconsistently found in typical APL defined as M3, according to the FAB classification.
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A new case of chronic myeloid leukaemia with a complex translocation involving chromosomes No. 1, 9 and 22 is reported. The striking similarity of this case with another previously reported case and the involvement of band 9q34 in chromosome rearrangements in CML patients indicates clearly a non-randomness of chromosome abnormalities in this blood disease, even when the translocation is different from the usual t(9;22) one. The usefulness of R-banding techniques is emphasized in these cases.
Chromosome C variants have been analyzed in individuals with hematological disorders. The incidence of chromosome 1 gh+ was significantly enhanced in CML patients (20/24) compared with controls (8/17). The distribution of C-variants of chromosomes 9 and 16 was not different in these individuals.
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E26 is an acute leukaemia avian retrovirus which induces myeloblastosis and erythroblastosis in vivo and transforms erythroblasts and myeloblasts in vitro. It contains the oncogene v-myb (ref. 4), first described for avian myeloblastosis virus (AMV), as well as a second specific nucleotide sequence, v-ets located 3' to v-myb (refs 5,6). We have reported that v-ets has a cellular counterpart (c-ets) in chicken and human DNA. Now, using two independent methods--hybridization with human c-ets probe of sorted chromosomes and in situ hybridization--we report the localization of the ets locus on human chromosome 11 at bands q23-q24. This finding may be important, as specific breakpoints around this position have been reported for human malignancies such as acute monocytic leukaemia and Ewing's sarcoma.
trk (NTRK) genes encode tyrosine kinase transmembrane receptors that are stimulated by neurotrophins, and are responsible for the transduction of signals controlling neuropoiesis and neuron survival in the central and peripheral nervous system, trkA gene has earlier been assigned to three different loci on chromosome 1. To resolve these conflicting results, and confirm the localization of trkB and trkC, probes specific to each of these related genes were constructed and used in fluorescent in situ hybridization on human metaphase cells. Our results indicate that trkA, trkB and trkC are located in chromosome bands 1q22, 9q22 and 15q25, respectively.