Posted: Thursday, April 1, 2021
A 71-year-old patient with central diabetes insipidus and acute myeloid leukemia (AML) had a mutation typically associated with overexpression of the MDS1 and EVI1 complex locus gene, according to a recent case report published in Case Reports in Hematology. Although the new onset of central diabetes insipidus is a rare complication of AML, David Ciske, MD, of the University of Wisconsin School of Medicine and Public Health, and colleagues, indicated it “portends a poor prognosis” and may be related to AML subtypes with dysregulation of the MECOM gene.
The patient was diagnosed with central diabetes insipidus 1 month before diagnosis with AML. His central diabetes insipidus symptoms rapidly improved with desmopressin nasal spray. The patient received induction chemotherapy, then an allogeneic hematopoietic stem cell transplantation. However, his disease relapsed, and he died 9 months after the initial diagnosis.
The patient’s final diagnosis was AML with myelodysplasia-related changes. He also experienced progressive thrombocytosis. Cytogenic analysis revealed a particular chromosomal translocation—t(2;3)(p23;q27), often leading to MDS1 and EVI1 complex locus gene overexpression.
The authors recommended future studies on the consequences of MDS1 and EVI1 complex locus gene dysregulation in AML. “The best available evidence suggests that patients with AML-associated central diabetes insipidus typically have unfavorable-risk cytogenetics,” they wrote.
Disclosure: The study authors reported no conflicts of interest.