伴有罕见t(7;14)(q21;q32)和4号染色体三体且临床预后不良的急性髓系白血病：一例报告
Acute Myeloid Leukemia With a Rare t(7;14)(q21;q32) and Trisomy 4 With Poor Clinical Outcome: A Case Report.
作者信息
Jabbar Seema B, Monaghan Sara, Chen Weina, Koduru Prasad, Kumar Kirthi
机构信息
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas.
出版信息
Lab Med. 2017 Nov 8;48(4):376-380. doi: 10.1093/labmed/lmx034.
OBJECTIVES
Recurrent cytogenetic abnormalities and/or molecular aberrations play an important role in the diagnosis and prognostification of acute myeloid leukemia (AML). We describe a case of a 40 year old woman diagnosed with de novo AML with a novel t(7;14)(q21,q32) and trisomy 4 with poor clinical outcome. Methods: Morphologic, flow cytometry and cytogenetic results of the patient's peripheral blood and bone marrow samples were analyzed.
RESULTS
The diagnostic bone marrow was hypercellular for age (>95%) with increased blasts (62%) that by flow cytometry exhibited myeloid differentiation with a few T/NK lineage markers. Cytogenetics showed a t(7;14)(q21,q32) and trisomy 4. The patient had extremely poor response to two rounds of induction chemotherapy with persistent leukemia following therapy.
CONCLUSION
To the best of our knowledge, the t(7;14) is a novel cytogenetic abnormality that has not been reported previously in acute myeloid leukemia, and is important to report as it appears to be associated with poor prognosis.
目的
复发性细胞遗传学异常和/或分子畸变在急性髓系白血病（AML）的诊断和预后评估中起着重要作用。我们描述了一例40岁女性，诊断为新发AML，伴有一种新的t(7;14)(q21,q32)和4号染色体三体，临床预后较差。方法：分析患者外周血和骨髓样本的形态学、流式细胞术和细胞遗传学结果。
结果
诊断性骨髓按年龄计算细胞过多（>95%），原始细胞增多（62%），流式细胞术显示其具有髓系分化，并带有一些T/NK谱系标志物。细胞遗传学显示存在t(7;14)(q21,q32)和4号染色体三体。该患者对两轮诱导化疗反应极差，治疗后白血病持续存在。
结论
据我们所知，t(7;14)是一种新的细胞遗传学异常，此前在急性髓系白血病中尚未见报道，因其似乎与不良预后相关，故予以报道很重要。
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