BCR/ABL fusion located on chromosome 9 in chronic myeloid leukemia with a masked Ph chromosome. 1995

A N Mohamed, and F Koppitch, and M Varterasian, and C Karanes, and K L Yao, and F H Sarkar
Department of Pathology, Harper Hospital, Wayne State University, Detroit, Michigan 48201, USA.

A reciprocal translocation, t(10;22)(q22;q11), resulting in a masked Ph chromosome was identified in a patient diagnosed with chronic myeloid leukemia (CML). Both homologs of chromosome 9 were of the normal pattern. Two signals for the ABL probe, both of them hybridized to chromosome 9, were demonstrated via fluorescence in situ hybridization (FISH). Furthermore, cohybridization with two differently labeled BCR/ABL translocation DNA probes indicated a BCR/ABL fusion apparently located on 9q34. Molecular studies revealed a rearrangement of the BCR region and expression of a chimeric BCR/ABL mRNA of CML configuration. These findings indicate that the BCR/ABL fusion resulted from an unusual relocation of the BCR gene from its normal position on 22q11 to 9q34 adjacent to the ABL gene.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010677 Philadelphia Chromosome An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE). Ph1 Chromosome,Ph 1 Chromosome,1 Chromosomes, Ph,Chromosome, Ph 1,Chromosome, Ph1,Chromosome, Philadelphia,Chromosomes, Ph 1,Chromosomes, Ph1,Ph 1 Chromosomes,Ph1 Chromosomes
D002899 Chromosomes, Human, Pair 9 A specific pair of GROUP C CHROMSOMES of the human chromosome classification. Chromosome 9
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS. Granulocytic Leukemia, Chronic,Leukemia, Granulocytic, Chronic,Leukemia, Myelocytic, Chronic,Leukemia, Myelogenous, Chronic,Leukemia, Myeloid, Chronic,Myelocytic Leukemia, Chronic,Myelogenous Leukemia, Chronic,Myeloid Leukemia, Chronic,Leukemia, Chronic Myelogenous,Leukemia, Chronic Myeloid,Leukemia, Myelogenous, Ph1 Positive,Leukemia, Myelogenous, Ph1-Positive,Leukemia, Myeloid, Ph1 Positive,Leukemia, Myeloid, Ph1-Positive,Leukemia, Myeloid, Philadelphia Positive,Leukemia, Myeloid, Philadelphia-Positive,Myelogenous Leukemia, Ph1-Positive,Myeloid Leukemia, Ph1-Positive,Myeloid Leukemia, Philadelphia-Positive,Chronic Granulocytic Leukemia,Chronic Granulocytic Leukemias,Chronic Myelocytic Leukemia,Chronic Myelocytic Leukemias,Chronic Myelogenous Leukemia,Chronic Myelogenous Leukemias,Chronic Myeloid Leukemia,Chronic Myeloid Leukemias,Granulocytic Leukemias, Chronic,Leukemia, Chronic Granulocytic,Leukemia, Chronic Myelocytic,Leukemia, Ph1-Positive Myelogenous,Leukemia, Ph1-Positive Myeloid,Leukemia, Philadelphia-Positive Myeloid,Leukemias, Chronic Granulocytic,Leukemias, Chronic Myelocytic,Leukemias, Chronic Myelogenous,Leukemias, Chronic Myeloid,Leukemias, Ph1-Positive Myelogenous,Leukemias, Ph1-Positive Myeloid,Leukemias, Philadelphia-Positive Myeloid,Myelocytic Leukemias, Chronic,Myelogenous Leukemia, Ph1 Positive,Myelogenous Leukemias, Chronic,Myelogenous Leukemias, Ph1-Positive,Myeloid Leukemia, Ph1 Positive,Myeloid Leukemia, Philadelphia Positive,Myeloid Leukemias, Chronic,Myeloid Leukemias, Ph1-Positive,Myeloid Leukemias, Philadelphia-Positive,Ph1-Positive Myelogenous Leukemia,Ph1-Positive Myelogenous Leukemias,Ph1-Positive Myeloid Leukemia,Ph1-Positive Myeloid Leukemias,Philadelphia-Positive Myeloid Leukemia,Philadelphia-Positive Myeloid Leukemias
D016044 Fusion Proteins, bcr-abl Translation products of a fusion gene derived from CHROMOSOMAL TRANSLOCATION of C-ABL GENES to the genetic locus of the breakpoint cluster region gene on chromosome 22. Several different variants of the bcr-abl fusion proteins occur depending upon the precise location of the chromosomal breakpoint. These variants can be associated with distinct subtypes of leukemias such as PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE; and NEUTROPHILIC LEUKEMIA, CHRONIC. Oncogene Protein p190(bcr-abl),Oncogene Protein p210(bcr-abl),bcr-abl Fusion Protein,bcr-abl Fusion Proteins,Bcr-Abl Tyrosine Kinase,Oncogene Protein p185(bcr-abl),Oncogene Protein p230(bcr-abl),p185(bcr-abl) Fusion Proteins,p190(bcr-abl) Fusion Proteins,p210(bcr-abl) Fusion Proteins,p230(bcr-abl) Fusion Proteins,Bcr Abl Tyrosine Kinase,Fusion Protein, bcr-abl,Fusion Proteins, bcr abl,Kinase, Bcr-Abl Tyrosine,Protein, bcr-abl Fusion,Tyrosine Kinase, Bcr-Abl,bcr abl Fusion Protein,bcr abl Fusion Proteins
D016313 Genes, abl Retrovirus-associated DNA sequences (abl) originally isolated from the Abelson murine leukemia virus (Ab-MuLV). The proto-oncogene abl (c-abl) codes for a protein that is a member of the tyrosine kinase family. The human c-abl gene is located at 9q34.1 on the long arm of chromosome 9. It is activated by translocation to bcr on chromosome 22 in chronic myelogenous leukemia. abl Genes,c-abl Genes,v-abl Genes,abl Oncogene,bcr-abl Proto-Oncogenes,bcr-v-abl Oncogenes,c-abl Proto-Oncogenes,v-abl Oncogenes,Gene, abl,Gene, c-abl,Gene, v-abl,Genes, c-abl,Genes, v-abl,Oncogene, abl,Oncogene, bcr-v-abl,Oncogene, v-abl,Oncogenes, abl,Oncogenes, bcr-v-abl,Oncogenes, v-abl,Proto-Oncogene, bcr-abl,Proto-Oncogene, c-abl,Proto-Oncogenes, bcr-abl,Proto-Oncogenes, c-abl,abl Gene,abl Oncogenes,bcr abl Proto Oncogenes,bcr v abl Oncogenes,bcr-abl Proto-Oncogene,bcr-v-abl Oncogene,c abl Genes,c abl Proto Oncogenes,c-abl Gene,c-abl Proto-Oncogene,v abl Genes,v abl Oncogenes,v-abl Gene,v-abl Oncogene

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