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Annals of Hematology

, Volume 90, Issue 10, pp 1241–1243 | Cite as

CML with e6a2 BCR-ABL1 transcript: an aggressive entity?

  • Karolien Anne Beel
  • Jan Lemmens
  • Hilde Vranckx
  • Johan Maertens
  • Peter Vandenberghe
Letter to the Editor

Dear Editor,

The BCR-ABL1 fusion gene is characteristic of CML. Four different breakpoint cluster regions (bcr) have been described in BCR. The most common BCR breakpoints, in 95% of CML cases, occur in M-BCR, i.e., introns 13 or 14, resulting in an e13a2 (b2a2) or an e14a2 (b3a2) BCR-ABL1 transcript. “Atypical” transcripts, e8a2, e19a2, e13a3, e14a3, e1a3, and e6a2 BCR-ABL1, account for less than 1% of CML cases [1, 2]. Only 11 CML patients have been reported with the e6a2 variant. A male predominance and a worse outcome have been suggested for this variant [3].

Here, we describe an additional CML case with an e6a2 fusion transcript. This 57-year-old male patient presented with hepatosplenomegaly, weight loss, cough, and fever. Laboratory examination showed a hemoglobin level of 12.1 g/dL, a white blood cell count of 43.5 × 10*9/L with 5% myeloblasts and 10% eosinophils, a platelet count of 129 × 10*9/L, and an LDH of 3,363 U/L (normal value, 313–618 U/L). An abdominal CT scan...

Keywords

Imatinib Dasatinib Amsacrine Multiplex Reverse Transcription Polymerase Chain Reaction ABL1 Exon 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Karolien Anne Beel
    • 1
  • Jan Lemmens
    • 2
  • Hilde Vranckx
    • 3
  • Johan Maertens
    • 1
  • Peter Vandenberghe
    • 3
  1. 1.Department of Hematology, Internal MedicineUniversity Hospital LeuvenLeuvenBelgium
  2. 2.Department of HematologyGZA-ziekenhuizenWilrijkBelgium
  3. 3.Center for Human GeneticsUniversity Hospitals LeuvenLeuvenBelgium

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