Central diabetes insipidus (CDI) is a rare complication of myelodysplastic syndrome (MDS). Although the cytogenetic features of patients with MDS and CDI are not clear, CDI in patients with acute myeloid leukemia (AML) is associated with chromosome 7 and/or 3 anomalies. In this report, we describe two patients with MDS and concurrent CDI, and in one of them, CDI was the first manifestation. One patient had monosomy 7 on metaphase cytogenetics (MC). Monosomy 7 and numerous cytogenetic abnormalities were found in the other patient using single-nucleotide polymorphism array (SNP-A) karyotyping, while the MC did not uncover monosomy 7. In this manuscript we also reviewed reported cases of MDS with diabetes insipidus (DI-MDS) to summarize the relationship between DI-MDS and karyotype, and explore the best treatment strategy for DI-MDS. DI-MDS is closely related to monosomy 7. Allogeneic hematopoietic stem cell transplantation may be the only effective treatment for DI-MDS. The SNP-A-based karyotyping is helpful to reveal subtle cytogenetic abnormalities and unveil their roles in the clinical features of MDS.

中文翻译：

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以中枢性尿崩症为表现的骨髓增生异常综合征与可见或隐藏的 7 号单体相关：两例报告并文献复习

中枢性尿崩症（CDI）是骨髓增生异常综合征（MDS）的一种罕见并发症。尽管 MDS 和 CDI 患者的细胞遗传学特征尚不清楚，但急性髓系白血病 (AML) 患者的 CDI 与 7 号和/或 3 号染色体异常有关。在本报告中，我们描述了两名 MDS 并发 CDI 患者，其中一名患者以 CDI 为首发表现。一名患者在中期细胞遗传学 (MC) 上有 7 号单体。使用单核苷酸多态性阵列 (SNP-A) 核型分析在另一名患者中发现了 7 号单体和许多细胞遗传学异常，而 MC 没有发现 7 号单体。在这篇手稿中，我们还回顾了 MDS 与尿崩症 (DI- MDS) 总结 DI-MDS 与核型的关系，探讨 DI-MDS 的最佳治疗策略。DI-MDS与7号单体密切相关。异基因造血干细胞移植可能是DI-MDS唯一有效的治疗方法。基于 SNP-A 的核型分析有助于揭示细微的细胞遗传学异常并揭示其在 MDS 临床特征中的作用。