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Abstract：
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 (EVI1)-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 EVI1 overexpression (-7/EVI1+) without 3q aberration. Treatment with induction therapy was unsuccessful. To the best of our knowledge, this is the second case of DI-AML with -7/EVI1+ and without a 3q aberration. The possible mechanisms associated with EVI1, monosomy 7 and DI were investigated.
摘要：
中心性尿崩症(DI)是急性髓系白血病(AML)患者的罕见并发症,通常发生在3号或7号染色体异常的患者。AML与单体7和DI之间的关联已经在许多研究中进行了描述；然而，在异位病毒整合位点1（EVI1）阳性的AML中很少报道DI。本研究报告1例AML伴7型和EVI1过度表达,以中央DI为初始症状。患者是一名18岁女性，表现为多尿和多饮。骨髓穿刺发现83.5％的髓过氧化物酶阳性母细胞，无三系骨髓增生异常。核型为45，XX，-7，患者表现为单体7和EVI1过表达（-7/EVI1），无3q畸变。诱导治疗不成功。据我们所知,这是第二例具有-7/EVI1+且无3q畸变的DI-AML。研究了与EVI1，7和DI相关的可能机制。
