Rapid decline of Philadelphia‑positive metaphases after nilotinib treatment in a cml patient expressing a rare e14a3 bcr‑abl1 fusion transcript: A case report

Massimino,Michele; Stella,Stefania; Tirrò,Elena; Consoli,Maria  Letizia; Pennisi,Maria  Stella; Puma,Adriana; Vitale,Silvia  Rita; Romano,Chiara; Zammit,Valentina; Stagno,Fabio; Di Raimondo,Francesco; Manzella,Livia

doi:10.3892/ol.2019.10558

Rapid decline of Philadelphia‑positive metaphases after nilotinib treatment in a cml patient expressing a rare e14a3 bcr‑abl1 fusion transcript: A case report

Authors:
- Michele Massimino
- Stefania Stella
- Elena Tirrò
- Maria Letizia Consoli
- Maria Stella Pennisi
- Adriana Puma
- Silvia Rita Vitale
- Chiara Romano
- Valentina Zammit
- Fabio Stagno
- Francesco Di Raimondo
- Livia Manzella
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Affiliations: Department of Clinical and Experimental Medicine, University of Catania, Catania I‑95123, Italy, Division of Hematology and Bone Marrow Transplant, A.O.U. Policlinico‑Vittorio Emanuele, Catania I‑95123, Italy
Published online on: July 4, 2019 https://doi.org/10.3892/ol.2019.10558
Pages: 2648-2653

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Abstract

We report a case of chronic myeloid leukemia in a 52‑year‑old male expressing a rare e14a3 BCR‑ABL1 fusion transcript. Cytogenetic analysis showed the t(9;22) translocation and multiplex RT‑PCR detected an atypical fragment of approximately 230 base pairs. Using two primers recognizing exon 10 of BCR and exon 4 of ABL1, a larger PCR product was identified, cloned, sequenced and defined as an e14a3 BCR‑ABL1 rearrangement. The patient was treated with nilotinib and monitored measuring cytogenetic and hematological parameters, while BCR‑ABL1 transcripts were surveyed by conventional and semi‑nested PCR. The patient achieved a complete hematologic response after two months of treatment followed by a complete cytogenetic remission two months later. Furthermore, PCR and semi‑nested PCR failed to detect the e14a3 BCR‑ABL1 mRNA after 15 and 21 months of nilotinib, respectively.

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