title: Lymphadenopathy as the primary manifestation of malignant transformation in two patients with severe congenital neutropenia.
abstract: We present the cases of two patients with severe congenital neutropenia (SCN) who both developed generalized adenopathy. Although both had recent histories that placed infection high on the differential of causes for the adenopathy, biopsies demonstrated acute myeloid leukemia (AML) as the etiology. The risk of malignant transformation in SCN is known to be significantly elevated, and these cases illustrate the need for physicians of such patients to keep myelodysplastic syndrome (MDS) and AML high on the differential when patients manifest atypical symptoms.
authors.affiliation: Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Gamper
authors.forename: Clifford M
authors.initials: CM
authors.lastname: Takemoto
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Schowinsky
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Borowitz
authors.forename: Marshall S
authors.initials: MS
authors.lastname: Horwitz
authors.forename: John J
authors.initials: JJ
authors.lastname: Strouse
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D002471:Cell Transformation, Neoplastic; D002648:Child; D005434:Flow Cytometry; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015470:Leukemia, Myeloid, Acute / Q000209:etiology* / Q000473:pathology; D019272:Leukocyte Elastase / Q000235:genetics; D008206:Lymphatic Diseases / Q000209:etiology* / Q000473:pathology; D009154:Mutation / Q000235:genetics; D009503:Neutropenia / Q000150:complications* / Q000151:congenital*
chemical_list: D019272:Leukocyte Elastase