An unusual translocation, t(1;11)(q21;q23), in a case of chronic myeloid leukemia with a cryptic Philadelphia chromosome

Gutiérrez,Leandro  Germán; Noriega,María  Fernanda; Laudicina,Alejandro; Quatrin,Mariana; Bengió,Raquel  María; Larripa,Irene

doi:10.3892/ol.2017.5845

An unusual translocation, t(1;11)(q21;q23), in a case of chronic myeloid leukemia with a cryptic Philadelphia chromosome

Authors:
- Leandro Germán Gutiérrez
- María Fernanda Noriega
- Alejandro Laudicina
- Mariana Quatrin
- Raquel María Bengió
- Irene Larripa
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Affiliations: Laboratory of Hematological Genetics, Institute of Experimental Medicine, National Council of Scientific and Technical Research‑National Academy of Medicine, C1425AUM Buenos Aires, Argentina, Genetics Division, Hematology Research Institute ʻMariano R. Castexʼ, National Academy of Medicine, C1425AUM Buenos Aires, Argentina, Lexel SRL, Division In Vitro, C1135ABO Buenos Aires, Argentina, Laboratory of Genetics, ‘Sor María Ludovica’ Hospital, La Plata, B1904CSI Buenos Aires, Argentina , Clinical‑Hematological Division, Hematology Research Institute ʻMariano R. Castexʼ, National Academy of Medicine, C1425AUM Buenos Aires, Argentina
Published online on: March 13, 2017 https://doi.org/10.3892/ol.2017.5845
Pages: 3159-3162

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Abstract

Chronic myeloid leukemia (CML) is characterized by the translocation t(9;22)(q34;q11) [Philadelphia (Ph) chromosome). Although not frequently occurring, additional chromosome abnormalities (ACAs) can be detected at diagnosis and a number have been associated with an adverse cytogenetic and molecular outcome. The present study reports a case of CML presenting with the translocation t(1;11)(q21;q23) and a cryptic Ph chromosome. The presence of ACAs could generate greater genetic instability, promoting the emergence of further alterations. The present findings suggest that t(1;11)(q21;q23) can prevent a good response to tyrosine kinase inhibitor (TKI) therapy developing a primary resistance. In the present patient, at a recent follow‑up, the T315I mutation was detected. This mutation confers full resistance to all available TKI, except ponatinib, which was not a therapeutic option due to comorbidities.

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