Subject(s)
Antigens, CD/metabolism , Lymphoma, B-Cell, Marginal Zone/diagnosis , Lymphoma, B-Cell, Marginal Zone/metabolism , Neoplastic Cells, Circulating/metabolism , Spleen/metabolism , Spleen/pathology , Antigens, CD/genetics , Antigens, Surface/genetics , Antigens, Surface/metabolism , Humans , Immunophenotyping , Lymphoma, B-Cell, Marginal Zone/genetics , Lymphoproliferative Disorders/metabolismSubject(s)
Chromosomes, Human, Pair 2 , Chromosomes, Human, Pair 8 , Molecular Chaperones/genetics , Myelodysplastic-Myeloproliferative Diseases/genetics , Nuclear Pore Complex Proteins/genetics , Receptor, Fibroblast Growth Factor, Type 1/genetics , Translocation, Genetic , Female , Humans , Middle AgedABSTRACT
A retrospective cytogenetic study of acute myeloid leukemias (AML) and myelodysplastic syndromes (MDS) was conducted by the Groupe Francophone de Cytogénétique Hématologique (GFCH) to evaluate the structural abnormalities of chromosome 5 associated with other chromosomal abnormalities, in particular of chromosome 7, in these pathologies. In all, 110 cases of AML/MDS were recruited based on the presence of chromosome 5 abnormalities under conventional cytogenetics and supplemented by a systematic fluorescence in situ hybridization study of chromosomes 5 and 7. The abnormalities of the long arm of chromosome 5 (5q) were deletions of various sizes and sometimes cryptic. The 5q abnormalities were associated with translocations in 54% of cases and were simple deletions in 46%. In 68% of cases, 5q deletions were associated with chromosome 7 abnormalities, and 90% of these presented a complex karyotype. Of the 110 patients, 28 had a hematopoietic disorder secondary to chemotherapy, radiotherapy, or both. Among 82 patients with de novo AML/MDS, 63 were older than 60 years. Chromosomal abnormalities often associated hypodiploidy and chromosome 5 and 7 abnormalities in complex karyotypes, features resembling those of secondary hemopathies. Systematic investigation of the exposure to mutagens and oncogenes is thus essential to specify the factors potentially involved in MDS/AML with 5q abnormalities.
Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 5 , Chromosomes, Human, Pair 7 , Leukemia, Myeloid/genetics , Myelodysplastic Syndromes/genetics , Acute Disease , Adolescent , Adult , Aged , Aged, 80 and over , Antineoplastic Agents/adverse effects , Chromosome Deletion , Female , Humans , In Situ Hybridization, Fluorescence , Male , Middle Aged , Neoplasms, Radiation-Induced , Translocation, GeneticSubject(s)
Artificial Gene Fusion , Chromosomes, Human, Pair 11 , Chromosomes, Human, Pair 9 , Homeodomain Proteins/genetics , Leukemia, Myeloid/genetics , Nuclear Pore Complex Proteins/genetics , Translocation, Genetic , Acute Disease , Amino Acid Sequence , Base Sequence , DNA, Neoplasm , Humans , Karyotyping , Leukemia, Myeloid/etiology , Molecular Sequence DataSubject(s)
DNA-Binding Proteins/genetics , Gene Amplification/physiology , Myelodysplastic Syndromes/genetics , Repressor Proteins/genetics , Aged , Blast Crisis , Chromosome Aberrations , Cytogenetic Analysis , Humans , Male , Myelodysplastic Syndromes/etiology , Myelodysplastic Syndromes/pathology , Proto-Oncogene Proteins c-ets , ETS Translocation Variant 6 ProteinABSTRACT
The orphan homeobox gene HOX11L2 was previously found to be transcriptionally activated as a result of the t(5;14)(q35;q32) translocation in three T-ALL cases. We now tested by RT-PCR Hox11L2 expression in 23 consecutive cases of T-ALL (15 children aged 0.8-14 years, eight adults aged 17-55 years) and as control 13 B-ALL patients from a single institution. Hox11L2 expression was undetectable in all patients with B-ALL, nor in adults with T-ALL. Nine children (60% of the cases), all boys, expressed Hox11L2. Blast cells from most of the latter patients carried surface CD1a, CD10 and not CD34 antigens, in contrast to the other children. FISH, M-FISH and IPM-FISH analysis failed to detect a t(5;14)(q35;q32) in one of them, which suggests a possible distinct genetic mechanism in Hox11L2 expression induction. Hence, Hox11L2 expression seems to be the most frequent abnormality in childhood T-ALL to date, comparable to the t(12;21) in child B-ALL.
