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

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• 作者：Stefania Aliano ; Gabriella Cirmena ; Giuseppina Fugazza ; Roberto Bruzzone ; Claudia Palermo ; Mario Sessarego
• 关键词：CML ; Variant translocation ; BCR/ABL KD mutation ; Tyrosine kinase inhibitors
• 刊名：Leukemia Research Reports
• 出版年：2013
• 年：2013
• 卷：2
• 期：2
• 页码：75-78
• 全文大小：1152 K

文摘

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.