Ma Hongbing, Yang Jing, Xiang Bing, Jia Yongqian
Department of Hematology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P.R. China.
Oncol Lett. 2015 Jun;9(6):2459-2462. doi: 10.3892/ol.2015.3139. Epub 2015 Apr 23.
Central diabetes insipidus (DI) is a rare complication in patients with acute myeloid leukemia (AML), typically occurring in patients with abnormalities of chromosomes 3 or 7. The association between AML with monosomy 7 and DI has been described in a number of studies; however, DI has been rarely reported in cases of ectopic virus integration site-1 ()-positive AML with monosomy 7. The current study reports a case of AML with monosomy 7 and EVI1 overexpression, with central DI as the initial symptom. The patient was an 18-year-old female who presented with polyuria and polydipsia. Bone marrow aspiration revealed 83.5% myeloperoxidase-positive blasts without trilineage myelodysplasia. The karyotype was 45,XX,-7, and the patient presented monosomy 7 and overexpression (-) without 3q aberration. Treatment with induction therapy was unsuccessful. To the best of our knowledge, this is the second case of DI-AML with - and without a 3q aberration. The possible mechanisms associated with , monosomy 7 and DI were investigated.
中枢性尿崩症(DI)是急性髓系白血病(AML)患者中一种罕见的并发症,通常发生在染色体3或7异常的患者中。多项研究描述了7号染色体单体型AML与DI之间的关联;然而,在7号染色体单体型且异位病毒整合位点-1(EVI1)阳性的AML病例中,DI鲜有报道。本研究报告了1例以中枢性DI为首发症状的7号染色体单体型且EVI1过表达的AML病例。该患者为一名18岁女性,表现为多尿和烦渴。骨髓穿刺显示83.5%髓过氧化物酶阳性原始细胞,无三系骨髓发育异常。核型为45,XX,-7,患者表现为7号染色体单体型和EVI1过表达(EVI1+),无3q畸变。诱导治疗未成功。据我们所知,这是第二例有或无3q畸变的DI-AML病例。研究了与EVI1、7号染色体单体型和DI相关的可能机制。