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一名成年患者急性巨核细胞白血病AML-M7亚型中的新型t(8;17)(q23;q24.2)和t(9;22)(p24.1;q12.2)

Novel t(8;17)(q23;q24.2) and t(9;22)(p24.1;q12.2) in acute megakaryoblastic leukemia AML-M7 subtype in an adult patient.

作者信息

Ahmad Firoz, Dalvi Rupa, Das Bibhu Ranjan, Mandava Swarna

机构信息

Research and Development, Super Religare Laboratories, Mumbai 400093, India.

出版信息

Cancer Genet Cytogenet. 2009 Sep;193(2):112-5. doi: 10.1016/j.cancergencyto.2009.04.018.

Abstract

The strong association of diagnostic karyotype with clinical outcome has made cytogenetics one of the most valuable diagnostic and prognostic tools for acute myeloid leukemia (AML). The subtype M7 is a rare disease of the megakaryoblastic lineage and is mostly associated with complex abnormal karyotype. We describe the clinical, morphologic, immunophenotypic, and cytogenetic findings in the case of a 39-year-old man with acute megakaryoblastic leukemia (AML-M7). Cytogenetic analysis revealed two translocations, t(8;17)(q23;q24.2) and t(9;22)(p24.1;q12.2), at presentation; to our knowledge, this combination is a novel finding for acute megakaryoblastic leukemia. The patient responded to induction therapy, achieving complete remission after 9 days of therapy.

摘要

诊断核型与临床结局之间的强关联使细胞遗传学成为急性髓系白血病(AML)最有价值的诊断和预后工具之一。M7亚型是巨核细胞系的一种罕见疾病,大多与复杂异常核型相关。我们描述了一名39岁急性巨核细胞白血病(AML-M7)男性患者的临床、形态学、免疫表型和细胞遗传学结果。细胞遗传学分析显示初诊时存在两种易位,即t(8;17)(q23;q24.2)和t(9;22)(p24.1;q12.2);据我们所知,这种组合在急性巨核细胞白血病中是一项新发现。患者对诱导治疗有反应,治疗9天后实现完全缓解。

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