E1A3 as a unique, naturally occurring BCR–ABL transcript in an indolent case of chronic myeloid leukaemia

A woman with Ph‐positive chronic myeloid leukaemia (CML) with an atypical e1a3 BCR–ABL hybrid gene is described. To our knowledge, this is the first report of this transcript type as a unique naturally occurring BCR–ABL fusion in a CML patient. This case was characterized by a low leucocyte count an...

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Bibliographic Details
Published in:British journal of haematology 2001-09, Vol.114 (3), p.635-637
Main Authors: Roman, Jose, Jimenez, Antonio, Barrios, Manuel, Castillejo, Juan Antonio, Maldonado, Juan, Torres, Antonio
Format: Article
Language:English
Subjects:
Aged
BCR–ABL
Biological and medical sciences
CML
Female
Fusion Proteins, bcr-abl
Hematologic and hematopoietic diseases
Hematology
Humans
Leukemia, Myeloid, Chronic-Phase - genetics
Leukemia, Myeloid, Chronic-Phase - immunology
Leukemia, Myeloid, Chronic-Phase - metabolism
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Leukocyte Count
Medical sciences
PCR
Philadelphia Chromosome
Ph‐chromosome
Reverse Transcriptase Polymerase Chain Reaction
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Description
Summary:A woman with Ph‐positive chronic myeloid leukaemia (CML) with an atypical e1a3 BCR–ABL hybrid gene is described. To our knowledge, this is the first report of this transcript type as a unique naturally occurring BCR–ABL fusion in a CML patient. This case was characterized by a low leucocyte count and a very indolent course without treatment. Because the deletion of ABL exon 2 sequences results in deletion of an essential part of the ABL SH3 domain, our case suggests that this ABL SH3 domain is not absolutely necessary for efficient induction of a myeloproliferative disease in the context of BCR–ABL/p190.
ISSN:0007-1048
1365-2141
DOI:10.1046/j.1365-2141.2001.02971.x