An ETV6-ABL1 fusion in a patient with chronic myeloproliferative neoplasm: Initial response to Imatinib followed by rapid transformation into ALL

Leukemia Research Reports

Barbara Fritz¹  Gerda Panzner¹  Ulrike Neidel¹  Andreas Völkl²  Ralf Schmidmaier²  Stefan K. Bohlander³  Purvi M. Kakadia³  Karsten Spiekermann⁴  Stephanie Schneider⁴  Natalia Huk⁴  Irene Schneider⁴ 

[1] Center for Human Genetics, Philipps University, Marburg, Germany;Department of Internal Medicine, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München (LMU), Munich, Germany;Department of Molecular Medicine and Pathology, The University of Auckland, Auckland, New Zealand;Laboratory for Leukemia Diagnostics, Department of Medicine III, University of Munich Hospital, Campus Grosshadern, Munich, Germany;

关键词: ETV6/ABL1 fusion;    CML;    ALL;    MRD assay;    TKI treatment;   

DOI  :  10.1016/j.lrr.2016.09.002

来源: DOAJ

【 摘 要 】

We report the case of a 26 year-old patient presenting with a persistent leukocytosis and CML-like marrow but no evidence of a BCR/ABL1 fusion. Molecular cytogenetics revealed that a portion of the ETV6 locus was inserted into the ABL1 locus. An ETV6/ABL1 fusion transcript could subsequently be confirmed. The patient was started on imatinib and went into complete cytomorphological remission. QRT-PCR measurements showed a 4 log reduction of the ETV6/ABL1 fusion. 15 months later, the disease transformed into ALL and the patient expired. Thus, an ETV6/ABL1 fusion positive MPN has the potential to transform very rapidly into ALL.

【 授权许可】

Unknown