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Standard and variant Philadelphia translocation in a CML patient with different sensitivity to imatinib therapy()

Most chronic myeloid leukemia (CML) patients show the Philadelphia chromosome (Ph) arising from the reciprocal t(9;22), but 5–10% present variants of this translocation involving different breakpoints besides 9q34 and 22q11. We report the non simultaneous occurrence of two different types of Ph tran...

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Detalles Bibliográficos
Autores principales: Aliano, Stefania, Cirmena, Gabriella, Fugazza, Giuseppina, Bruzzone, Roberto, Palermo, Claudia, Sessarego, Mario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850369/
https://www.ncbi.nlm.nih.gov/pubmed/24371787
http://dx.doi.org/10.1016/j.lrr.2013.07.004
Descripción
Sumario:Most chronic myeloid leukemia (CML) patients show the Philadelphia chromosome (Ph) arising from the reciprocal t(9;22), but 5–10% present variants of this translocation involving different breakpoints besides 9q34 and 22q11. We report the non simultaneous occurrence of two different types of Ph translocation in a CML patient: a t(9;22)(q34;q11) standard and a three-way variant t(9;11;22)(q34;p15;q11). Bone marrow cells with standard translocation did not have BCR/ABL kinase domain (KD) mutations and were sensitive to imatinib therapy. In contrast, bone marrow cells with the variant translocation showed two BCR/ABL KD mutations and were resistant to imatinib, thus inducing transformation to the blast phase and karyotype evolution.