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A Novel e8a2BCR-ABL1 Fusion Transcript without Insertion Sequence in a Patient with Chronic Myeloid Leukemia

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초록

Chronic myeloid leukemia (CML) is a clonal hematopoietic stem cell disorder characterized by a reciprocal translocation between the long arms of chromosomes 9 and 22, resulting in the formation of a Philadelphia (Ph) chromosome. Most chimeric BCR-ABL1 fusion transcripts are e13a2(b2a2) or e14a2(b3a2), encoding a 210-kDa protein, p210, but some are a e1a2 transcript or e19a2 transcript encoding a 190-kDa protein or a 230-kDa protein, respectively [1]

Abstract

Chronic myeloid leukemia (CML) is a clonal hematopoietic stem cell disorder characterized by a reciprocal translocation between the long arms of chromosomes 9 and 22, resulting in the formation of a Philadelphia (Ph) chromosome. Most chimeric BCR-ABL1 fusion transcripts are e13a2(b2a2) or e14a2(b3a2), encoding a 210-kDa protein, p210, but some are a e1a2 transcript or e19a2 transcript encoding a 190-kDa protein or a 230-kDa protein, respectively [1]

참고문헌 (10)

  1. Jain P, "Impact of BCR-ABL transcript type on outcome in patients with chronic-phase CML treated with tyrosine kinase inhibitors", Blood, 127, pp.1269~1275 (2016)[DOI]
  2. Demehri S, "e8a2 BCR-ABL: more frequent than other atypical BCR-ABL variants?", Leukemia, 19, pp.681~684 (2005)[DOI]
  3. Tchirkov A, "Major molecular response to imatinib in a patient with chronic myeloid leukemia expressing a novel form of e8a2 BCR-ABL transcript", Leukemia, 20, pp.167~168 (2006)[DOI]
  4. Riva E, "A novel e8a2 BCR-ABL1 fusion with insertion of MAST2 exon 2 in a four-way translocation t (1;17;9;22) (p35;q24;q44;q11) in a patient with chronic myeloid leukemia", Leuk Lymphoma, 57, pp.203~205 (2015)
  5. Reid AG, "A potential role for PRDM12 in the pathogenesis of chronic myeloid leukaemia with derivative chromosome 9 deletion", Leukemia, 18, pp.178~180 (2004)[DOI]
  6. Huet S, "Molecular characterization and follow-up of five CML patients with new BCR-ABL1 fusion transcripts", Genes Chromosomes Cancer, 54, pp.595~605 (2015)[DOI]
  7. Chen L, "A novel e8a2 BCR-ABL1 intronic fusion through insertion of a chromosome 22 BCR gene fragment into chromosome 9 in an atypical Philadelphia (Ph) chromosome chronic myeloid leukemia patient", Leuk Lymphoma, 57, pp.2930~2933 (2016)[DOI]
  8. Cayuela JM, "Identification of a rare e8a2BCR-ABL fusion gene in three novel chronic myeloid leukemia patients treated with imatinib", Leukemia, 19, pp.2234~2236 (2005)
  9. Qin YZ, "Imatinib mesylate resistance in a chronic myeloid leukemia patient with a novel e8a2 BCR-ABL transcript variant", Acta Haematol, 120, pp.146~149 (2008)[DOI]
  10. Park IJ, "A case of chronic myelogenous leukemia with e8a2 fusion transcript", Cancer Genet Cytogenet, 185, pp.106~108 (2008)[DOI]

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