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一项关于 138 例治疗相关性髓系肿瘤的单中心回顾性研究。

A monocentric retrospective study of 138 therapy-related myeloid neoplasms.

机构信息

Department of Laboratory Medicine, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.

Center for Human Genetics, University Hospitals Leuven and KU Leuven, Leuven, Belgium.

出版信息

Ann Hematol. 2018 Dec;97(12):2319-2324. doi: 10.1007/s00277-018-3462-y. Epub 2018 Sep 10.

Abstract

As diagnosing therapy-related myeloid neoplasms (t-MN) is often challenging, we reviewed clinicopathological features of t-MN patients. Medical records of 138 patients, diagnosed with t-MN between 1995 and 2017, were reviewed. Of 138 patients, 80 had t-MDS, 53 t-AML, and 5 t-MDS/MPN (age, 22-88 years; median 64 years; male/female ratio, 0.8). The median latency time was 6 years and 5 months. Of 115 patients, 56 patients received cytotoxic-/radiotherapy for a solid tumor, 56 for hematological malignancy, and 3 for an auto-immune disorder, respectively. Another 21 patients had a combination of 2 disorders. Moreover, 2 patients had 3 previous malignancies. Breast cancer was the most prevalent tumor, followed by low-grade B non-Hodgkin lymphoma. Immunophenotyping and immunohistochemistry showed aberrant expression of B-, T-, or NK-cell markers in 21% and 6%, respectively. In 90% of the patients, dysplasia in ≥ 1 lineage was found. KMT2A fusion gene transcripts were seen in 5%. Cytogenetic analysis showed complex karyotypes (31%) and chromosome 5 and/or 7 abnormalities (40%). Almost 82% of the patients died and the median overall survival was about 1 year. Our study confirms that previous therapy for breast cancer is the most important cause of t-MN. KMT2A fusion genes are prevalent and complex karyotypes and/or chromosomes 5 and/or 7 abnormalities are common.

摘要

由于诊断治疗相关髓系肿瘤(t-MN)常常具有挑战性,我们回顾了 t-MN 患者的临床病理特征。我们回顾了 1995 年至 2017 年间诊断为 t-MN 的 138 例患者的病历。在 138 例患者中,80 例为 t-MDS,53 例为 t-AML,5 例为 t-MDS/MPN(年龄 22-88 岁;中位数 64 岁;男女比例 0.8)。潜伏期中位数为 6 年 5 个月。在 115 例患者中,56 例因实体瘤、56 例因血液系统恶性肿瘤、3 例因自身免疫性疾病接受细胞毒性/放射治疗,另有 21 例患者同时存在两种疾病。此外,还有 2 例患者有 3 次既往恶性肿瘤。乳腺癌是最常见的肿瘤,其次是低级别 B 型非霍奇金淋巴瘤。免疫表型和免疫组化显示,21%和 6%的患者分别存在 B、T 或 NK 细胞标志物的异常表达。在 90%的患者中,发现≥1 个谱系的发育不良。在 5%的患者中可见 KMT2A 融合基因转录本。细胞遗传学分析显示复杂核型(31%)和染色体 5 和/或 7 异常(40%)。几乎 82%的患者死亡,中位总生存期约为 1 年。我们的研究证实,先前治疗乳腺癌是 t-MN 的最重要原因。KMT2A 融合基因很常见,复杂核型和/或染色体 5 和/或 7 异常也很常见。

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