Rapid development of Philadelphia chromosome-negative AML in a CML patient with sustained major molecular response to tyrosine kinase inhibitor therapy

Abstract

The use of TKIs has significantly improved the prognosis of CML. However, a small subset of patients still experience poor outcomes. We present a rare case of Ph-AML following a diagnosis of CML. The patient achieved CCyR and MMR after 4 months of nilotinib therapy, with sustained deep remission for 3 years. Unexpectedly, the disease developed rapidly to AML. Further investigations revealed the emergence of CCA/Ph- and gene mutations. We retrospectively analyzed previous CML patients with BCR::ABL1 and Ph-negative status in blast crisis from our database and conducted a comprehensive review of the relevant literature.