Search PubMed⌕ Search

Biomedical subjects

A Bernheim

Publications and source records attributed to A Bernheim.

At least 127 records · Page 7Linked to original sources
PubMed1988

Cytogenetic study of 130 childhood acute nonlymphocytic leukemias.

Cytogenetic studies performed on 130 consecutive childhood acute nonlymphocytic leukemias (ANLL) investigated in the same center between 1977 and 1986 are reported. The incidence of clonal chromosomal abnormalities was 68.5% with uneven distribution among the groups of the FAB nomenclature. The high incidence of t(8;21) translocation cases, which was 58.6% of M2 ANLL cases, was remarkable. Complete remission rate was lower (P less than 0.05) in ANLL with all karyotypically abnormal metaphases (AA) than in the other ANLL (NN, with only normal metaphases, and AN, with a mixture of normal and abnormal metaphases). Median survival was also shorter in AA ANLL than in AN and NN cases (P less than 0.01). Median survival was different according to karyotype abnormalities: 11q anomalies and t(15;17) were not associated with a good prognosis, and the t(8;21) is not associated with a particularly long median survival (16 months) when compared with other ANLL as opposed to the results of others. The longest survival (26 months) was observed in patients with acute myelomonocytic leukemia with bone marrow eosinophilia. It may be concluded that chromosome studies have a prognostic value in childhood ANLL.

Bone Marrow Examination↗
PubMed1988

The ras-related ral gene maps to chromosome 7p15-22.

Human cDNAs coding for the new protein ral that shares 50% homology with the ras proteins have been recently isolated. A 600-bp fragment carrying mainly the coding region was used to localize the ral gene by hybridization with sorted chromosomes and in situ hybridization. Direct molecular hybridization on sorted chromosomes using a single laser illumination allowed the assignment of the ral gene to a region of the flow karyotype containing chromosomes 7, 8 and X. With dual laser analysis ral was assigned to the fraction containing chromosome 7. In the 331 human metaphases hybridized with the 3H-labelled insert, the silver grain distribution showed a unique major signal on chromosome 7p15-22.

Cell Line, Transformed↗
PubMed1988

Cytogenetics of T-cell malignant lymphoma. Report of 17 cases and review of the chromosomal breakpoints.

Cytogenetic studies are reported on 17 T-cell malignant lymphomas (ML) including six cutaneous T-cell malignant lymphomas (CTCL). Due to the low incidence of rearrangements on bands where the T-cell receptor genes are located, other cases reported in the literature were analyzed in order to estimate the most frequent chromosomal breakpoints in ML, CTCL, and adult T-cell leukemia-lymphoma. Besides chromosomes 1 and 6q, 14q11, 7p15p21, and 7q32q35, the most frequent rearrangements involved bands 14q32, 2p11-p14, 2p23-p25, 17cen, 9p21p23, and 10p13p15. These results show that molecular studies must be concentrated on these chromosomal regions in order to identify the DNA sequences that may be involved in T-cell malignancies.

Adult↗
PubMed1988

Cytogenetic studies on acute nonlymphocytic leukemia in relapse.

Karyotypic abnormalities were compared in 42 acute nonlymphocytic leukemia patients at diagnosis and in relapse. Clonal changes were observed in 21 cases. The types of changes were the appearance of clonal abnormalities in relapse in four patients without clonal changes at diagnosis, the detection of new abnormalities superimposed on preexisting ones in 11 cases, and the selection of an abnormal clone in six others. Nonclonal structural abnormalities, mainly involving chromosomes 17 and 12p, were detected in relapse in 17 patients, compared to seven at diagnosis. The appearance of totally new clonal changes at relapse and the role of individual sensitivity to chemotherapy are discussed.

Acute Disease↗
PubMed1988

Cytogenetic studies of Burkitt lymphoma-leukemia in patients with acquired immunodeficiency syndrome.

The frequency of Burkitt lymphoma-leukemia (BL) is high in patients with acquired immunodeficiency syndrome (AIDS). We describe four such cases, three with a translocation t(8;14)(q24;q32) and one with a t(8;22)(q24;q11). No Epstein-Barr virus genome was found in the tumorous cells of this patient. Including these cases, 13 patients with AIDS-associated BL have been reported so far with specific translocations. Three had a t(8q+; 22q-) variant translocation and the other ten patients had the t(8q-; 14q+). Associated chromosomal abnormalities were as frequent as in ordinary BL and were comparable with those occurring in cases of other BL, such as partial duplication of 1q and 13q34 rearrangements. Trisomy 12, however, was observed in 3 out of 13 AIDS-associated BL cases.

Acquired Immunodeficiency Syndrome↗
PubMed1988

Mapping of a human fibrillar collagen gene, pro alpha 1 (XI) (COL11A1), to the p21 region of chromosome 1.

Type XI collagen is a minor and poorly characterized structural component of cartilage. Recently, cDNA and genomic clones coding for the pro alpha 1 chain of human Type XI collagen, formerly 1 alpha collagen, have been isolated and fully characterized. Here we have used one such probe to establish the chromosomal localization of the pro alpha 1 (XI) collagen gene (COL11A1) by hybridization to filter-bound DNA isolated from flow-sorted chromosomes and by in situ hybridization on metaphase chromosomes. This combination of approaches has enabled us to locate COL1A11 in the p21 region of chromosome 1. This represents the first mapping of a Type XI collagen gene and the first assignment of a collagen locus to chromosome 1. These studies also provide additional evidence for the nearly uniform dispersion of the human fibrillar collagen genes in the human genome.

Chromosome Banding↗
PubMed1988

Philadelphia-positive acute leukemia: lineage promiscuity and inconsistently rearranged breakpoint cluster region.

Six patients with Philadelphia-positive (Ph1+) acute nonlymphocytic leukemia (ANLL) were studied by morphological, immunological, cytogenetic, and molecular techniques. Seven Ph1+ acute lymphocytic leukemia (ALL) cases were also studied for comparison. Three of ANLL cases were classified in M1, M2, and M4 groups of the FAB nomenclature, while the three other cases do not fit with any FAB subgroup and are described as M0. Immunophenotypical marker studies, double immunolabeling, and combined immunological and cytogenetic studies of metaphases showed that these ANLL expressed several lineage differentiation antigens. Rearrangements of immunoglobulin heavy chain gene (C mu) were detected in the six ANLL cases and in the seven ALL cases studied, as well as, in most cases, rearrangement of T cell receptor beta chain genes and/or T cell rearranging gamma genes. The results favored the assumption that the Ph1 translocation originated from a multipotent stem cell in Ph1+ ANLL. A common t(9;22) translocation was found in all cases, and additional chromosomal abnormalities were present in the six ANLL cases and in five of the seven ALL cases. Molecular studies of bcr gene configuration and c-abl transcription allowed two groups of Ph1+ ANLL to be distinguished. Three cases had bcr rearrangement and c-abl mRNA expression comparable to those reported in Ph1+ chronic myeloid leukemia, while three others had not detectable bcr rearrangement and a 7.2-7.5 kb c-abl mRNA. The existence of Ph1+ ALL with and without classical bcr rearrangement was confirmed.

Adolescent↗
PubMed1988

[The value of chromosome anomalies in the prognosis of acute non-lymphoblastic leukemia in children].

Cytogenetic studies performed on 130 consecutive childhood acute non lymphoblastic leukemias (ANLL) and investigated in the same center between 1977 and 1986 have been studied for their prognostic value. Clonal chromosome changes were detected in 68.5% (89/130) of the cases prior to treatment. Complete remission rate and median survival were significantly lower in patients with only abnormal metaphases than in patients with only normal metaphases (NN) or a mixture of normal and abnormal mitoses (AN). The ANLL with translocation t(8;21), which were 58.6% of the M2 ANLL, were not associated with a particularly long survival (16 months) when compared with AN and NN ANLL. The longest survival (26 months) was observed in patients with acute myelomonocytic leukemia with bone marrow eosinophilia. Cytogenetic analysis have a prognostic value in childhood ANLL.

Adolescent↗
PubMed1987

Cytogenetic studies on 519 consecutive de novo acute nonlymphocytic leukemias.

Cytogenetic studies were performed in the same laboratory on 519 untreated cases of de novo acute nonlymphocytic leukemia (ANLL) between 1977 and 1985. The overall incidence of clonal chromosome abnormalities was 54.3%; higher in children (67.5%) than in adults (50.4%). The distribution of chromosome abnormalities was uneven, according to the categories of the FAB nomenclature. The highest frequency of chromosome changes was observed in ANLL-M3 and the lowest in M1 and M6. The frequency of specific chromosome abnormalities and of their associated changes were also estimated. Monosomy 7 was detected in three patients with acute megakaryocytic leukemia (M7). Six cases with two abnormal chromosomally unrelated clones were observed and six constitutional chromosome abnormalities were detected. A clearer knowledge of the incidence of various chromosomal changes in ANLL seems necessary for better differentiation between the so-called primary and secondary chromosome abnormalities and for prognostic evaluation.

Acute Disease↗
PubMed1987

Cytogenetic studies on patients with medullary carcinoma of the thyroid.

Cytogenetic studies were carried out on stimulated lymphocyte cultures of patients with medullary carcinoma of the thyroid. Of 32 patients studied, seven had a hereditary carcinoma, and five had multiple endocrine neoplasia type 2A and two had type 2B. Neither a constitutional chromosome abnormality nor an increase in chromosomal breakage were detected in these patients.

Adolescent↗
PubMed1987

Prognostic significance of chromosomal abnormalities in acute nonlymphocytic leukemia: a study of 343 patients.

Clonal chromosome abnormalities of 343 patients with de novo acute nonlymphocytic leukemia (ANLL) have been tentatively correlated with prognosis. All the patients were treated according to therapeutic protocols in the same hospital. The complete remission rate and median survival were generally lower in AA-ANLL (ANLL with only karyotypically abnormal metaphases) when compared with NN- and AN-ANLL. Similarly, AA-ANLL had the poorest prognosis in the majority of the classes of the French-American-British nomenclature. ANLL with inversion and/or deletion of chromosome #16 had the best prognosis, and ANLL with t(8;21) was not particularly favorable, nor was acute promyelocytic leukemia with t(15;17). ANLL with complex chromosomal abnormalities had the poorest prognosis. The conclusion is that chromosomal aberrations do have a prognostic significance in ANLL, but that this significance is dependent on the types of chromosomal aberrations.

Acute Disease↗
PubMed1987

Cytogenetic studies of Sézary cells.

Cytogenetic studies of two patients with Sézary's syndrome and of one patient with mycosis fungoides are reported. One chromosome #14 at band 14q11 was involved in chromosomal rearrangements in one patient. A review of previously reported cases shows that some chromosome abnormalities appeared nonrandomly, involving chromosomes #1, #4, #6, #7, #9, #13, #14, and #17. Abnormalities on 2p and monosomy 10 were emphasized.

Adult↗
PubMed1986

A t(8;14)(q24;q11) translocation in a T-cell leukemia (L1-ALL) with c-myc and TcR-alpha chain locus rearrangements.

Cell lines established from T-cell leukemias have recently been reported to exhibit a chromosome translocation t(8;14) involving proto-oncogene c-myc and the gene of the T-cell receptor alpha-chain(TcR-alpha). In this work, we have studied a case of T-cell leukemia presenting a t(8;14)(q24;q11) translocation that was found in fresh leukemic cells taken during relapse, but was absent in cells collected at diagnosis. Hybridization analysis showed that the breakpoint on chromosome 8 was located 3' to the c-myc exon 3. A TcR-alpha-specific original probe (D14S7, Mathieu-Mahul et al., 1985) revealed two differently rearranged patterns in DNA from leukemic cells obtained at diagnosis and during relapse. In contrast, the rearranged TcR-beta-gene DNA pattern did not change during the course of the disease, indicating that leukemic cells were clonally related. These data indicate that the chromosome breakpoint in 14q11 is situated in the TcR-alpha locus. These results suggest that translocations t(8;14) involving TcR-alpha and c-myc genes in T-cell malignancies are analogous to variant t(2;8) and t(8;22) translocations observed in Burkitt lymphoma. They also establish that the same types of molecular rearrangements due to a t(8;14)(q24;q11) translocation, at first described in T-cell lines established in culture, also exist in vivo and may play a role in the evolution of the leukemic process.

Child↗
PubMed1986

Abnormalities of the short arm of chromosome 12 in acute nonlymphocytic leukemia and dysmyelopoietic syndrome.

Abnormalities of the short arm of chromosome #12 (12p) were found in 18 patients, 7 with previously untreated acute nonlymphocytic leukemia (ANLL) and 11 with dysmyelopoietic syndromes (MDS) or ANLL following treatment for another malignant disease. The chromosome #12 abnormality was a partial deletion in 15 patients and a translocation in 3. The 12p- was the sole chromosomal abnormality in seven patients (four with de novo ANLL) and was associated with other chromosome abnormalities in eight patients. Thus, partial monosomy for 12p was often associated with other chromosomal changes and was a secondary abnormality in some cases. The consequences of this hemizygosity for genes located at 12p are discussed with references to the possible expression of a potentially mutated recessive gene. The study of c-K-ras 2, normally located at 12p, must be done in such cases, as the association of secondary blood disorders and multiple chromosome abnormalities suggests a possible mutation of this c-oncogene on chromosome #12.

Acute Disease↗
PubMed1986

Cytogenetic studies in four cases of alpha chain disease.

Cytogenetic studies were performed in four cases of alpha chain disease. Chromosomal abnormalities were found in the lymphoid cells of the mesenteric lymph nodes of three patients, two of whom had not reached the stage of overt malignant lymphoma. In two instances, a rearrangement of 14q32, resulting from a t(9;14)(p11;q32) and a t(2;14)(p12;q32) was observed. One case showed complex rearrangements including t(5;9). No abnormalities were found in the intestinal tumor of the fourth case with immunoblastic lymphoma. It is concluded that alpha chain disease is a clonal proliferation with frequent alteration of chromosome #14 at band q32 resulting from translocations that differ from those observed in the vast majority of other non-Hodgkin lymphomas.

Chromosome Aberrations↗
PubMed1986

Complex chromosomal abnormalities in acute nonlymphocytic leukemia.

A comparison of chromosome abnormalities between 31 cases of de novo acute nonlymphocytic leukemia (ANLL) with complex karyotypes and 30 cases of secondary ANLL or dysmyelopoietic syndromes (DMS) revealed significant differences. Hyperdiploidy and partial or complete monosomy 5 were more frequent in complex de novo ANLL, whereas, hypo or pseudodiploidy and partial or complete monosomy of chromosome #7 were more frequent in secondary ANLL/DMS. Monosomy 17 and partial deletion of the short arm of chromosome #12 (12p-) occurred more commonly in de novo ANLL and secondary ANLL/DMS, respectively, but were not statistically significant. Therefore, although the abnormalities found in the two groups were of the same basic type, the frequencies of occurrence differed. These findings suggest the role of as yet unknown agents in the etiology of some so called de novo ANLL, and that different mutagenic or carcinogenic agents may produce different chromosomal abnormalities.

Acute Disease↗