Concurrent Central Diabetes Insipidus and Acute Myeloid Leukemia

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.

Central Diabetes Insipidus Induced by Acute Myeloid Leukemia with DNMT3A Mutation

“…The combination of AML and DI is unique, and the diagnosis of DI is mostly made either before the diagnosis of AML or at the time of diagnosis of AML [ 2 , 6 ]. DI with AML is typical of pituitary origin which is supported by the fact that many patients respond to desmopressin [ 1 , 2 ].…”

“…Analogously, CDI with AML is an unfavorable association and some reports have documented poor clinical outcomes [ 2 , 6 , 16 ]. Intensive induction chemotherapy and allogeneic stem cell transplantation have been proven to be beneficial in prolonging survival in a few cases [ 6 ].…”

“…Analogously, CDI with AML is an unfavorable association and some reports have documented poor clinical outcomes [ 2 , 6 , 16 ]. Intensive induction chemotherapy and allogeneic stem cell transplantation have been proven to be beneficial in prolonging survival in a few cases [ 6 ]. Owing to the polyuria, inaccessibility to water, or inability to drink, patients may develop dehydration and hypotension and patients should be closely monitored for these side effects especially if they are scheduled to receive chemotherapy [ 1 ].…”

Central diabetes insipidus and partial anterior pituitary dysfunction in acute myeloid leukemia

“…The patient’s robust improvement in symptoms and biochemistry with desmopressin therapy along with her MRI findings suggested a central rather than nephrogenic cause for her DI. CDI has been uncommonly seen in association with AML, with approximately 100 case studies reported worldwide ( 2 , 5 ). When present, it has largely been observed with aberrations in chromosomes 3 and 7 ( 2 ).…”

“…In this case, the most likely mechanism for the development of CDI and partial anterior pituitary dysfunction is leukemic infiltration, with hemorrhage, infection, or thrombosis of the small vessels of the hypophysis ( 3 , 5 , 7 ). Supporting evidence includes the time course of her presentation with respect to her AML diagnosis, imaging findings, and investigations excluding other causes.…”