[1例t(3;3)(q21;q26.2)与慢性髓性白血病母细胞危像中严重多系发育不良和多重耐药相关]。

Sun Ah Lee, Jihyang Lim, Myungshin Kim, Yonggoo Kim, Kyungja Han
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引用次数: 2

摘要

已知t(3;3)(q21;q26.2)主要见于血液学髓系恶性肿瘤,是3q21q26综合征的一种。3q21q26综合征的细胞遗传学异常导致RPN1-EVI1融合转录物涉及3q26.2的亲生态病毒整合位点1 (EVI1)和3q21的核磷酸化蛋白I (RPN1),融合转录物在白血病发生和疾病进展中起重要作用。它们通常与发育不良有关,尤其是巨核细胞。这些细胞遗传学异常的患者即使接受积极的抗白血病治疗,预后也极差。我们报告一例伴有t(3;3)(q21;q26.2)和t(9;22)(q34;q11.2)的CML母细胞危像,并伴有严重的多系发育不良。患者对伊马替尼、达沙替尼和积极诱导治疗反应不佳。当t(3;3)(q21;q26.2)和t(9;22)(q34;q11.2)在原细胞增多的白血病病例中同时出现时,它们最好被认为是t(3;3)(q21;q26.2)合并CML的侵袭期,而不是2008年WHO分类的t(9;22)(q34;q11.2)合并AML的侵袭期。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[A case of t(3;3)(q21;q26.2) associated with severe multilineage dysplasia and multi-drug resistance in blastic crisis of chronic myelogenous leukemia].

The t(3;3)(q21;q26.2) is known to be mainly observed in hematologic myeloid malignancies, as a form of 3q21q26 syndrome. Cytogenetic abnormalities of 3q21q26 syndrome result in RPN1-EVI1 fusion transcripts involving ecotropic viral integration site-1 (EVI1) at 3q26.2 and ribophorin I (RPN1) at 3q21, and the fusion transcripts play an important role in leukemogenesis and disease progression. They are usually associated with dysplasia, especially of megakaryocytes. Patients with these cytogenetic abnormalities show extremely poor prognosis even with aggressive anti-leukemic therapy. We report a case of blastic crisis of CML with both t(3;3)(q21;q26.2) and t(9;22)(q34;q11.2) and associated severe multilineage dysplasia. The patient showed a poor response to imatinib, dasatinib and aggressive induction therapy. When both t(3;3)(q21;q26.2) and t(9;22)(q34;q11.2) are observed in cases of leukemia with increased blasts, they are best considered as aggressive phases of CML with t(3;3)(q21;q26.2), rather than AML with t(9;22)(q34;q11.2) by 2008 WHO classification.

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来源期刊
Korean Journal of Laboratory Medicine
Korean Journal of Laboratory Medicine 医学-医学实验技术
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