Acute myeloid leukemia presenting with panhypopituitarism or diabetes insipidus: a case series with molecular genetic analysis and review of the literature

作者:Cull Elizabeth H*; Watts Justin M; Tallman Martin S; Kopp Peter; Frattini Mark; Rapaport Franck; Rampal Raajit; Levine Ross; Altman Jessica K
来源:Leukemia and Lymphoma, 2014, 55(9): 2125-2129.
DOI:10.3109/10428194.2013.869327

摘要

Central diabetes insipidus (DI) is a rare finding in patients with acute myeloid leukemia (AML), usually occurring in patients with chromosome 3 or 7 abnormalities. We describe four patients with AML and concurrent DI and a fifth patient with AML and panhypopituitarism. Four of five patients had monosomy 7. Three patients had chromosome 3q21q26/EVI-1 gene rearrangements. The molecular genotype of patients with AML and DI is not known. Therefore, we performed gene sequencing of 30 genes commonly mutated in AML in three patients with available leukemia cell DNA. One patient had no identifiable mutations, and two had RUNX1 F158S mutations.