Cytogenetics in pre-B and B-cell acute lymphoblastic leukemia: a study of 208 patients diagnosed between 1981 and 2008.

The detection of chromosome abnormalities by conventional cytogenetics, now combined with analyses using fluorescence in situ hybridization (FISH), is an important component in assessing the risk stratification of acute lymphoblastic leukemia (ALL). Identification of specific chromosome abnormalities led to the recognition of genetic subgroups based on modal chromosomal number, reciprocal translocations in B-cell ALL, or both. We report here the cytogenetic analysis of 208 patients with pre-B and B-cell ALL referred to a single laboratory between 1981 and 2008.

Philadelphia chromosome-positive acute lymphoblastic leukemia: a cytogenetic study of 33 patients diagnosed between 1981 and 2008.

Background: The Philadelphia (Ph) chromosome, resulting from a t(9;22)(q34;q11), is one of the most frequent chromosomal abnormalities observed among patients with acute lymphoblastic leukemia (ALL). Main of study: To analyze the distribution of Ph chromosome-positive ALL patients.

Patients And Methods: Conventional cytogenetic analysis was performed on bone marrow cells at the time of diagnosis and/or relapse of 208 patients shown to have B-cell ALL.

Chromosome 20 deletions in myelodysplastic syndromes and Philadelphia-chromosome-negative myeloproliferative disorders: characterization by molecular cytogenetics of commonly deleted and retained regions.

Deletion of the long arm of chromosome 20 is a recurrent abnormality observed in myelodysplastic syndromes (MDS) and in Philadelphia-chromosome-negative myeloproliferative disorders (MPD). Our objective was to characterize the deletion size among 38 MDS and MPD patients using fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) probes and to define commonly deleted and retained regions on chromosome 20. Patients were distributed in three groups according to the World Health Organization classification: MDS (22 patients), MPD (12 patients) and myelodysplastic/myeloproliferative diseases (four patients).

Inhibitory effect of the substance P and its derivative on erythropoietin-independent growth of erythroid progenitors in polycythemia vera.

Regulation of normal hematopoiesis by neuropeptide substance P (SP) and its amino terminal fragment, SP(1-4), has been reported. Endogenous erythroid colony (EEC) formation without erythropoietin is characteristic of polycythemia vera (PV), a chronic myeloproliferative disorder. We investigated the effect(s) of SP and SP(1-4) on EEC formation from PV BM mononuclear cells (BMMCs) and purified CD36+ erythroid progenitors.

Evaluation of chromosome 5 aberrations in complex karyotypes of patients with myeloid disorders reveals their contribution to dicentric and tricentric chromosomes, resulting in the loss of critical 5q regions.

Dicentric chromosomes have often been observed in complex karyotypes in previously reported studies of therapy-related myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). Fluorescence in situ hybridization (FISH) has now made the characterization of these rearrangements much easier. Dicentric and tricentric chromosomes were identified in 21 patients (9 MDS and 12 AML) among the 133 consecutive MDS/AML patients (17%) who had a structural or numerical aberration of chromosome 5 using conventional cytogenetic analysis.

Deletion size characterization of der(9) deletions in Philadelphia-positive chronic myeloid leukemia.

About 95% of the CML patients with chronic myeloid leukemia (CML) have a Philadelphia chromosome resulting from a reciprocal translocation between bands 9q34 and 22q11.2 that juxtaposes the 3' region of the ABL gene to the 5' region of BCR. Over the past few years, submicroscopic deletions due to the loss of sequences proximal to chromosome 9 breakpoint or distal to chromosome 22 breakpoint have been found using fluorescence in situ hybridization (FISH).

Chromosome 1 abnormalities in multiple myeloma.

Multiple myeloma (MM) is a malignancy of the terminally-differentiated B cells and accounts for 10% of all hematological malignancies. Chromosome 1 aberrations are frequently described, the short arm being preferentially involved in deletions and the long arm in gains. The abnormalities were identified in the bone marrow of 37 MM patients by conventional cytogenetics.

Jumping translocations in multiple myeloma.

Jumping translocations (JT) have been defined as nonreciprocal translocations involving a same donor chromosome arm or chromosome segment onto two or more recipient chromosomes in different cell lines in the same patient, leading to a mosaic karyotype. This definition has been expanded to also include extra copies of a same donor segment on different recipient chromosomes in a single clone. Six patients with multiple myeloma and JT involving chromosome arm 1q were identified among 37 patients presenting with chromosome 1 abnormalities.

Screening by fluorescence in situ hybridization for MLL status at diagnosis in 239 unselected patients with acute myeloblastic leukemia.

A large number of abnormalities involving the MLL gene have been associated with hematological malignancies, including acute myeloblastic leukemias (AML). Given the overall unfavorable prognosis of AML with an MLL abnormality, its reliable and accurate detection is needed for informed treatment decision. We therefore investigated the occurrence of MLL abnormalities in 239 unselected consecutive AML patients, using conventional cytogenetic and fluorescent in situ hybridization (FISH) analyses.

Characterization of IGH rearrangements in non-Hodgkin's B-cell lymphomas by fluorescence in situ hybridization.

Rearrangements involving the IGH gene have been identified in about 50% of non-Hodgkin's B-cell lymphomas (NHL) and correlated to clinical relevant subgroups. However, the detection rate varied greatly with the technique used. The incidence of IGH rearrangements was analyzed using several fluorescence in situ hybridization (FISH) techniques on metaphases obtained from 57 patients with nodal NHL.

Rearrangement of the MLL gene in acute myeloblastic leukemia: report of two rare translocations.

Band 11q23 is known to be involved in translocations and insertions with a variety of partner chromosomes. They lead to MLL rearrangement, resulting in a fusion with numerous genes. We report here 2 male adults in whom a diagnosis of acute myelomonoblastic leukemia (FAB M4) and acute monoblastic leukemia (FAB M5) was made.

Interphase FISH for follow-up of Philadelphia chromosome-positive chronic myeloid leukemia treatment.

Background: Several attempts have been made to determine whether interphase fluorescence in situ hybridization (I-FISH) on bone marrow or peripheral blood specimens is a good alternative to conventional cytogenetics (CC) in calculating the residual proportion of Philadelphia (Ph) chromosome-positive cells during treatment follow-up of patients with chronic myeloid leukemia.

Materials And Methods: Nineteen patients were selected for I-FISH follow-up compared to CC. All samples were also classified into 4 groups according to the percentage of residual Ph chromosome-positive metaphases analyzed in CC.

Deletion of the 5'ABL region in Philadelphia chromosome positive chronic myeloid leukemia: frequency, origin and prognosis.

The use of new nuclei probes in fluorescent in situ hybridization (FISH) at diagnosis and during follow up has recently allowed the detection of a deletion of the 5'abl region on the derivative chromosome 9 among some CML patients. This deletion seems to be a powerful and independent prognostic factor. The aim of our study was not only to estimate the frequency of the deletion of the 5'abl region among chronic myeloid leukemia (CML) patients with bcr-abl fusion gene, but also, to assess whether this deletion is concomitant with the formation of the Philadelphia (Ph) chromosome or represents a sign for progression of the disease, and finally to evaluate the prognostic implications of this abnormality.

Trisomy 15 as the sole abnormality in myelodysplastic syndromes: case report and review of the literature.

Trisomy 15 as the sole autosomal anomaly is uncommon in hematological malignancies but could be preferentially associated with myelodysplasia. We report a 61-year-old man who developed pancytopenia following two courses of chemotherapy for chronic lymphoid leukemia. Cytogenetic studies at diagnosis of pancytopenia with R banding showed a 47,XY, + 15[3]/45,X[3]/46,XY[14] karyotype.

Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights.

Aceruloplasminemia is an autosomal recessive disease of iron overload associated with mutation(s) in the ceruloplasmin gene. We report here a new case of aceruloplasminemia in a woman who is a compound heterozygote for two new mutations. Besides this novel genotypic profile, this observation provides new insights on: (i) iron metabolism with normal erythroid repartition, in the absence of serum non-transferrin-bound iron and with an increase of 59Fe plasma clearance; (ii) hepatic abnormalities associated with the presence of iron-free foci; (iii) the therapeutic management of the disease, chronic subcutaneous infusion of deferrioxamine being remarkably effective at reducing hepatic iron overload.