Lymphadenopathy as the primary manifestation of malignant transformation in two patients with severe congenital neutropenia.
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.
Gamper
Christopher J
CJ
Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Takemoto
Clifford M
CM
Schowinsky
Jeffrey
J
Borowitz
Michael J
MJ
Horwitz
Marshall S
MS
Strouse
John J
JJ
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*
D019272:Leukocyte Elastase