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Concurrence of e1a2 and e19a2 BCR-ABL1 Fusion Transcripts in a Typical Case of Chronic Myeloid Leukemia

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초록

Dear Editor, There are three types of BCR-ABL1 fusion transcripts that differ on the basis of the breakpoint in the BCR gene [1]. The major type, encoding p210, has two isoforms, b2a2 (e13a2) and b3a2 (e14a2), and is associated with more than 95% of Ph-positive CML cases. The minor type, encoding p190, is e1a2. The micro type, encoding p230, is e19a2. This micro type is rare, and has been associated with a variety of hematologic malignancies including neutrophilic CML (CML-N), all phases of classical CML, essential thrombocythemia (ET), and acute myeloid or lymphoblastic leukemia [2, 3]. Here, we describe the first case of chronic phase CML concurrently expressing e1a2 and e19a2 BCR-ABL1.

Abstract

Dear Editor, There are three types of BCR-ABL1 fusion transcripts that differ on the basis of the breakpoint in the BCR gene [1]. The major type, encoding p210, has two isoforms, b2a2 (e13a2) and b3a2 (e14a2), and is associated with more than 95% of Ph-positive CML cases. The minor type, encoding p190, is e1a2. The micro type, encoding p230, is e19a2. This micro type is rare, and has been associated with a variety of hematologic malignancies including neutrophilic CML (CML-N), all phases of classical CML, essential thrombocythemia (ET), and acute myeloid or lymphoblastic leukemia [2, 3]. Here, we describe the first case of chronic phase CML concurrently expressing e1a2 and e19a2 BCR-ABL1.

참고문헌 (9)

  1. Melo JV, "The diversity of BCR-ABL fusion proteins and their relationship to leukemia phenotype", Blood, 88, pp.2375~2384 (1996)
  2. Pane F, "Neutrophilic-chronic myeloid leukemia: a distinct disease with a specific molecular marker (BCR", ABL with C3, Blood, pp.1996, 88[DOI]
  3. Jeon EK, "The first case of acute lymphoblastic leukemia with the e19a2 BCR-ABL1 transcript: imatinib therapy followed by unrelated donor transplantation induces a durable molecular response", Leukemia, 25, pp.366~367 (2011)
  4. van Rhee F, "p190 BCR-ABL mRNA is expressed at low levels in p210-positive chronic myeloid and acute lymphoblastic leukemias", Blood, 87, pp.5213~5217 (1996)
  5. Briz M, "Typical chronic myelogenous leukemia with e19a2 junction BCR", ABL transcript, 1997, pp.90, 5024~5025
  6. Bertorelle R, "The e19a2 BCR", ABL fusion transcript with additional chromosomal aberrations on a new case of chronic myeloid leukemia (CML) of mild type, 2001, pp.15, 2003~2004
  7. How GF, "Chronic myeloid leukemia with e19a2 (c3a2) BCR", ABL fusion junction--is it truly a benign disease?, 1998, pp.12, 1166~1167
  8. Pardanani A, "Chronic myeloid leukemia with p190BCR-ABL: prevalence, morphology, tyrosine kinase inhibitor response, and kinase domain mutation analysis", Blood, 114, pp.3502~3503 (2009)
  9. Vardiman JW, "Chronic myelogenous leukemia, BCR-ABL1+", Am J Clin Pathol, 132, pp.250~260 (2009)

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