iAMP21 in acute myeloid leukemia is associated with complex karyotype, TP53 mutation and dismal outcome.,Modern Pathology

当前位置： X-MOL 学术 › Modern Pathol. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

iAMP21 in acute myeloid leukemia is associated with complex karyotype, TP53 mutation and dismal outcome.
Modern Pathology ( IF 7.1 ) Pub Date : 2020-02-07 , DOI: 10.1038/s41379-020-0494-3
Wei Xie ₁ , Jie Xu ₁ , Shimin Hu ₁ , Shaoying Li ₁ , Wei Wang ₁ , C Cameron Yin ₁ , Gokce Toruner ₁ , Zhenya Tang ₁ , L Jeffrey Medeiros ₁ , Guilin Tang ₁

Affiliation

Acute myeloid leukemia (AML) with intrachromosomal amplification of chromosome 21 (iAMP21) is rare and has not been well characterized. We report 13 patients, 7 men and 6 women, with a median age of 65 years. Eleven patients presented with AML with myelodysplasia-related changes, and two patients had therapy-related AML. Cytopenias were detected in all patients (11 pancytopenia and two bi-lineage cytopenia). Myelodysplastic changes were observed in all 11 patients with adequate cells to evaluate. Myelofibrosis was present in ten patients. All patients had a complex karyotype, including abnormalities of chromosomes 5, 7, 17, and hsr(21)(q22), and ten patients showed TP53 deletion and/or mutation. Eleven patients received AML-based chemotherapy, one of whom also received hematopoietic stem cell transplant. By the end of the last follow-up, eight patients died with median survival of 3.2 months, four patients were alive with persistent AML, and one was in complete remission. The median overall survival was 6 months for all patients. We conclude that AML with iAMP21 is often associated with cytopenias, myelodysplasia, a complex karyotype, TP53 mutation/deletion, and a poor prognosis despite current therapies.

中文翻译：

急性髓性白血病中的 iAMP21 与复杂的核型、TP53 突变和令人沮丧的结果相关。

具有 21 号染色体 (iAMP21) 染色体内扩增的急性髓性白血病 (AML) 很少见，尚未得到很好的表征。我们报告了 13 名患者，7 名男性和 6 名女性，中位年龄为 65 岁。11 名 AML 患者出现了与骨髓增生异常相关的变化，2 名患者出现了与治疗相关的 AML。所有患者均检测到血细胞减少症（11 例全血细胞减少症和 2 例双系血细胞减少症）。在所有 11 名具有足够细胞进行评估的患者中观察到骨髓增生异常变化。十名患者出现骨髓纤维化。所有患者均具有复杂的核型，包括5、7、17号染色体和hsr(21)(q22)异常，10例患者存在TP53缺失和/或突变。11 名患者接受了基于 AML 的化疗，其中一名患者还接受了造血干细胞移植。在最后一次跟进结束时，8 名患者死亡，中位生存期为 3.2 个月，4 名患者存活，患有持续性 AML，1 名患者完全缓解。所有患者的中位总生存期为 6 个月。我们得出结论，iAMP21 的 AML 通常与血细胞减少、骨髓增生异常、复杂核型、TP53 突变/缺失和预后不良相关，尽管目前有治疗方法。

更新日期：2020-02-07

点击分享查看原文

点击收藏

阅读更多本刊最新论文本刊介绍/投稿指南11