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中枢性尿崩症与急性髓系白血病并存

Concurrent Central Diabetes Insipidus and Acute Myeloid Leukemia.

作者信息

Pritzl Stephanie L, Matson Daniel R, Juckett Mark B, Ciske David J

机构信息

University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

出版信息

Case Rep Hematol. 2021 Feb 16;2021:8898671. doi: 10.1155/2021/8898671. eCollection 2021.

Abstract

Central diabetes insipidus (CDI) is a rare reported complication of acute myeloid leukemia (AML). The onset of AML-associated CDI often precedes the diagnosis of AML by weeks or months and is considered an adverse prognostic indicator in this setting. The mechanism of AML-associated CDI is not known; however, it is often reported in the setting of cytogenetic events resulting in MDS1 and EVI1 complex locus protein (MECOM) gene overexpression. Here, we describe a case of new onset CDI which preceded a diagnosis of AML by 1 month. We detail the clinical and laboratory evaluation of the patient's CDI, and we describe the pathological and laboratory workup of their AML, which ultimately yielded a diagnosis of AML with myelodysplasia-related changes. Additional cytogenetic findings included the identification of the t (2;3)(p23;q27), which leads to MECOM gene overexpression and which to our knowledge has not previously been reported in the setting of AML-associated CDI. The patient received induction chemotherapy followed by allogeneic hematopoietic stem cell transplantation but experienced disease relapse and passed away nine months after initial diagnosis. We emphasize that new onset CDI can occur as a rare complication of AML where it portends a poor prognosis and may be related to AML subtypes displaying MECOM gene dysregulation.

摘要

中枢性尿崩症(CDI)是急性髓系白血病(AML)一种罕见的报道并发症。AML相关的CDI发病往往在AML诊断前数周或数月出现,在此情况下被视为不良预后指标。AML相关CDI的机制尚不清楚;然而,它常出现在导致MDS1和EVI1复合位点蛋白(MECOM)基因过表达的细胞遗传学事件背景中。在此,我们描述一例新发CDI病例,其在AML诊断前1个月出现。我们详细介绍了该患者CDI的临床和实验室评估情况,并描述了其AML的病理和实验室检查结果,最终诊断为伴有骨髓增生异常相关改变的AML。其他细胞遗传学发现包括t(2;3)(p23;q27)的鉴定,该异常导致MECOM基因过表达,据我们所知,此前在AML相关CDI背景下尚未有过报道。该患者接受了诱导化疗,随后进行了异基因造血干细胞移植,但疾病复发,在初次诊断9个月后去世。我们强调,新发CDI可作为AML的一种罕见并发症出现,预示预后不良,且可能与显示MECOM基因失调的AML亚型有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1631/7902136/982dae66b04b/CRIHEM2021-8898671.001.jpg

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