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BMC Cancer
Published in: BMC Cancer 1/2018

Open Access 01-12-2018 | Case report

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

Authors: Nuno Cerveira, Rosa Branca Ferreira, Susana Bizarro, Cecília Correia, Lurdes Torres, Susana Lisboa, Joana Vieira, Rui Santos, Fernando Campilho, Carlos Pinho Vaz, Luís Leite, Manuel R. Teixeira, António Campos

Published in: BMC Cancer | Issue 1/2018

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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.
Appendix
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Metadata
Title
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
Authors
Nuno Cerveira
Rosa Branca Ferreira
Susana Bizarro
Cecília Correia
Lurdes Torres
Susana Lisboa
Joana Vieira
Rui Santos
Fernando Campilho
Carlos Pinho Vaz
Luís Leite
Manuel R. Teixeira
António Campos
Publication date
01-12-2018
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2018
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/s12885-018-5100-4

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