Chimeric BCR/ ABL gene detected by fluorescence in situ hybridization in three new cases of Philadelphia chromosome-negative chronic myelocytic leukemia

Three new cases are reported of cytogenetically Philadelphia-negative (Ph−) chronic myelocytic leukemia (CML), with positive BCR/ ABL gene rearrangement according to a reverse transcriptase polymerase chain reaction technique. Fluorescence in situ hybridization (FISH) studies using different probes...

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Bibliographic Details
Published in:Cancer genetics and cytogenetics 2003-03, Vol.141 (2), p.114-119
Main Authors: Costa, Dolors, Espinet, Blanca, Queralt, Rosa, Carrió, Ana, Solé, Francesc, Colomer, Dolors, Cervantes, Francisco, Hernández, José Angel, Besses, Carles, Campo, Elias
Format: Article
Language:English
Subjects:
Adult
Aged
Biological and medical sciences
Chromosomes, Human, Pair 9
Female
Fusion Proteins, bcr-abl - genetics
Genes, abl
Hematologic and hematopoietic diseases
Humans
In Situ Hybridization, Fluorescence
Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative - genetics
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Male
Medical sciences
Middle Aged
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Summary:Three new cases are reported of cytogenetically Philadelphia-negative (Ph−) chronic myelocytic leukemia (CML), with positive BCR/ ABL gene rearrangement according to a reverse transcriptase polymerase chain reaction technique. Fluorescence in situ hybridization (FISH) studies using different probes showed three different situations involving chromosomes 9 and 22 for the masked BCR/ ABL fusion gene. With the use of BCR/ABL-extra signal and CEP 9 probes (Vysis, Downers Grove, IL, USA), FISH studies detected the BCR/ ABL fusion gene at the end of chromosome 9 in patient 1, a BCR/ ABL fusion gene on both chromosomes 22 in patient 2 (who was in an accelerated phase of CML), and a BCR/ABL fusion signal on chromosome 22 in patient 3. Interestingly, FISH interphase signals showed the same pattern in patients 1 and 3, but the BCR/ ABL fusion gene was located on different chromosomes. Careful interpretation of the results and a simultaneous study of nuclei and metaphases are therefore recommended in each case. In conclusion, in cases of Ph− CML, FISH studies are of paramount importance since they can detect chromosomal reorganization and its location, and can also provide quantitative follow-up of these patients.
ISSN:0165-4608
1873-4456
DOI:10.1016/S0165-4608(02)00662-3