Clinical Outcomes of Patients With Chronic Myeloid Leukemia With Concurrent Core Binding Factor Rearrangement and Philadelphia Chromosome

Kiyomi Morita, Elias Jabbour, Farhad Ravandi, Gautam Borthakur, Joseph D. Khoury, Shimin Hu, Guillermo Garcia-Manero, William Wierda, Ghayas Issa, Naval Daver, Naveen Pemmaraju, Guillermo Montalban-Bravo, Kelly A. Soltysiak, Sherry Pierce, Carlos Bueso-Ramos, Jorge Cortes, Koji Sasaki

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


Background: Acquisition of additional cytogenetic abnormalities (ACAs) in addition to Philadelphia chromosome is frequently observed in patients with chronic myeloid leukemia (CML) in advanced phase. The presence of core binding factor (CBF) translocations determines the diagnosis of acute myeloid leukemia regardless of blast percentage, and CBF rearrangements are rarely identified as ACAs. Patients and Methods: A retrospective chart review of patients with CML who had CBF rearrangement, t(8;21) or inv(16), in Philadelphia chromosome-positive clones was conducted. Additional cases of CML with CBF rearrangements were identified through literature review. Results: Between August 1997 and December 2014, we identified 11 patients who had Philadelphia chromosome and CBF rearrangement in the same clones: 1 (9%) with t(8;21) and 10 (91%) with inv(16). Nine (82%) patients were in blast phase, and 2 (18%) in second chronic phase. Four (36%) patients received tyrosine kinase inhibitor monotherapy, 2 (18%) received tyrosine kinase inhibitor and chemotherapy, and 5 (45%) received chemotherapy only. Three (27%) patients achieved complete remission with incomplete count recovery, and 4 (36%) had no response after the initial therapy. Three (27%) patients underwent allogeneic stem cell transplantation. The median event-free survival and overall survival for the 11 patients were 2 months and 6 months, respectively. Literature review identified 14 patients with CML with CBF rearrangement with a median overall survival of 14 months. Conclusion: Acquisition of CBF rearrangement in addition to Philadelphia chromosome is a rare phenomenon associated with poor prognosis. CBF rearrangements as ACAs in patients with CML can be considered high-risk features.

Original languageEnglish (US)
Pages (from-to)338-344
Number of pages7
JournalClinical Lymphoma, Myeloma and Leukemia
Issue number5
StatePublished - May 2021
Externally publishedYes


  • Additional cytogenetic abnormalities
  • Blast phase
  • Chronic myeloid leukemia
  • Core binding factor
  • Tyrosine kinase inhibitor

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


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