Department of Laboratory Medicine, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
Center for Human Genetics, University Hospitals Leuven and KU Leuven, Leuven, Belgium.
Ann Hematol. 2018 Dec;97(12):2319-2324. doi: 10.1007/s00277-018-3462-y. Epub 2018 Sep 10.
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.
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。
