title: Acute myeloid leukemia presenting with panhypopituitarism or diabetes insipidus: a case series with molecular genetic analysis and review of the literature.
abstract: 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.
authors.affiliation: Division of Hematology and Oncology, Department of Medicine, Northwestern University Feinberg School of Medicine and Northwestern Memorial Hospital , Chicago, IL , USA.
authors.forename: Elizabeth H
authors.initials: EH
authors.lastname: Cull
authors.forename: Justin M
authors.initials: JM
authors.lastname: Watts
authors.forename: Martin S
authors.initials: MS
authors.lastname: Tallman
authors.forename: Peter
authors.initials: P
authors.lastname: Kopp
authors.forename: Mark
authors.initials: M
authors.lastname: Frattini
authors.forename: Franck
authors.initials: F
authors.lastname: Rapaport
authors.forename: Raajit
authors.initials: R
authors.lastname: Rampal
authors.forename: Ross
authors.initials: R
authors.lastname: Levine
authors.forename: Jessica K
authors.initials: JK
authors.lastname: Altman
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001921:Brain / Q000473:pathology; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D002897:Chromosomes, Human, Pair 7; D003919:Diabetes Insipidus / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007018:Hypopituitarism / Q000175:diagnosis*; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation
keywords: Acute myeloid leukemia; diabetes insipidus; panhypopituitarism