Novel type of BCR-ABL transcript in a chronic myelogenous leukaemia patient relapsed after bone marrow transplantation

• Published in: British journal of haematology 2000-11, Vol.111 (2), p.644-646
• Main Authors: ROMAN, Jose, PARZIALE, Adele, GOTTARDI, Enrico, DE MICHELI, Daniela, CILLONI, Daniela, TIRIBELLI, Mario, GONZALEZ, Maria Gracia, DEL CARMEN RODRIGUEZ, Maria, TORRES, Antonio, SAGLIO, Giuseppe
• Format: Article
• Language: English
• Subjects: Adult; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Biological and medical sciences; Bone Marrow Transplantation; Bone marrow, stem cells transplantation. Graft versus host reaction; Fusion Proteins, bcr-abl - genetics; Gene Expression Profiling; Gene Rearrangement; Hematologic and hematopoietic diseases; Humans; Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics; Leukemia, Myelogenous, Chronic, BCR-ABL Positive - surgery; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical sciences; Recurrence; Reverse Transcriptase Polymerase Chain Reaction; Transfusions. Complications. Transfusion reactions. Cell and gene therapy
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1046/j.1365-2141.2000.02394.x

We identified a novel BCR-ABL transcript in a chronic myelogenous leukaemia (CML) patient who relapsed after bone marrow transplantation (BMT), containing a fusion between part of BCR exon 3, 44 nucleotides derived from ABL intron 1b and ABL exon 2. The breakpoints were located within BCR exon 3 on chromosome 22 and within the ABL intron 1b on chromosome 9, and the transcript derives from a splicing of ABL exon 2 to a putative splicing acceptor site 44 nucleotides downstream to the breakpoint on chromosome 9. The patient's clinical course strengthens the idea that short forms of BCR-ABL transcripts are associated with a more aggressive disease.