title: Myeloid Neoplasms with Germline Predisposition: A New Provisional Entity Within the World Health Organization Classification.
abstract: The forthcoming update of the World Health Organization (WHO) classification of hematopoietic neoplasms will feature "Myeloid Neoplasms with Germline Predisposition" as a new provisional diagnostic entity. This designation will be applied to some cases of acute myeloid leukemia and myelodysplastic syndrome arising in the setting of constitutional mutations that render patients susceptible to the development of myeloid malignancies. For the diagnostic pathologist, recognizing these cases and confirming the diagnosis will demand a sophisticated grasp of clinical genetics and molecular techniques. This article presents a concise review of this new provisional WHO entity, including strategies for clinical practice.
authors.affiliation: Department of Pathology, University of New Mexico, 1001 Woodward Place NE, Albuquerque, NM 87102, USA. Electronic address: DCzuchlewski@salud.unm.edu.
authors.forename: David R
authors.initials: DR
authors.lastname: Czuchlewski
authors.affiliation: Department of Pathology, Northwestern University Feinberg School of Medicine, NMH/Feinberg Room 7-344, 251 East Huron, Chicago, IL 60611, USA.
authors.forename: LoAnn C
authors.initials: LC
authors.lastname: Peterson
mesh_terms: D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics; D014944:World Health Organization
chemical_list: D009363:Neoplasm Proteins
keywords: Acute myeloid leukemia; Familial cancer; Germline predisposition mutation; Myelodysplastic syndrome