Ponatinib induces a sustained deep molecular response in a chronic myeloid leukaemia patient with an early relapse with a T315I mutation following allogeneic hematopoietic stem cell transplantation: a case report

BMC Cancer

Rosa Branca Ferreira¹  António Campos¹  Fernando Campilho¹  Carlos Pinho Vaz¹  Luís Leite¹  Joana Vieira²  Manuel R. Teixeira²  Lurdes Torres²  Cecília Correia²  Susana Bizarro²  Rui Santos²  Susana Lisboa²  Nuno Cerveira² 

[1] Department of Bone Marrow Transplantation, Portuguese Oncology Institute;Department of Genetics, Portuguese Oncology Institute;

关键词: CML;    T315I;    Relapse;    HSCT;    Ponatinib;   

DOI  :  10.1186/s12885-018-5100-4

来源: DOAJ

【 摘 要 】

Abstract Background Atypical BCR-ABL1 transcripts are detected in less than 5% of patients diagnosed with chronic myeloid leukaemia (CML), of which e19a2 is the most frequently observed, with breakpoints in the micro breakpoint cluster region (μ-BCR) and coding for the p230 BCR-ABL1 protein. p230 CML is associated with various clinical presentations and courses with variable responses to first-line imatinib. Case presentation Here we report a case of imatinib resistance due to an E255V mutation, followed by early post-transplant relapse with a T315I mutation that achieved a persistent negative deep molecular response (MR5.0) after treatment with single-agent ponatinib. Using CastPCR, we could trace back the presence of the T315I mutation to all the RNA samples up to the detection of T315 mutation by Sanger sequencing shortly after allogeneic hematopoietic stem cell transplantation (HSCT). Conclusion This case illustrates the major interest of ponatinib as a valid treatment option for e19a2 CML patients who present a T315I mutation following relapse after HSCT.

【 授权许可】

Unknown