Yokota Sho, Nakamura Yuichi, Bessho Masami
Department of Hematology, Saitama Medical University Hospital, 38 Moro-Hongo, Moroyama-machi, Iruma-gun, Saitama, 350-0495, Japan.
Mol Cytogenet. 2012 May 1;5(1):20. doi: 10.1186/1755-8166-5-20.
About 5-10 % of chronic myelogenous leukemia (CML) patients show variant Philadelphia (Ph) translocations. The formation mechanisms and clinical significance of variant Ph translocations remain unclear. We report a CML case with a novel five-way complex translocation. Although the result of initial G-banding was 46,XY,t(7;11;9)(q22;q13;q34),t(9;22)(q34;q11.2), fluorescence in situ hybridization (FISH) demonstrated t(7;11;9;22;9)(q22;q13;q34;q11.2;q34) consisting of sequential rearrangements involving five chromosomes. The patient was successfully treated by imatinib and obtained a major molecular response. To our knowledge, this is the tenth CML case with a complicated Ph translocation involving five chromosomes and the third one treated by imatinib. Good response with imatinib therapy suggested that a single-event rearrangement was involved in the chromosomal changes.
约5%-10%的慢性粒细胞白血病(CML)患者存在变异型费城(Ph)染色体易位。变异型Ph染色体易位的形成机制及临床意义尚不清楚。我们报告1例伴有新型五重复杂易位的CML病例。尽管最初的G显带结果为46,XY,t(7;11;9)(q22;q13;q34),t(9;22)(q34;q11.2),但荧光原位杂交(FISH)显示为t(7;11;9;22;9)(q22;q13;q34;q11.2;q34),由涉及五条染色体的连续重排组成。该患者接受伊马替尼治疗成功并获得主要分子反应。据我们所知,这是第10例伴有涉及五条染色体的复杂Ph染色体易位的CML病例,也是第3例接受伊马替尼治疗的此类病例。伊马替尼治疗反应良好提示染色体改变涉及单一事件重排。