title: A leukemic presentation of alveolar rhabdomyosarcoma in a 52-year-old woman without an identifiable primary tumor.
abstract: A 52-year-old woman presented with fatigue and thrombocytopenia. Imaging studies were unremarkable with the exception of a positron emission tomography scan, which demonstrated intense F-18 fluorodeoxyglucose uptake fusing to the marrow. A bone marrow aspirate was notable for large discohesive cells with basophilic cytoplasm, and flow cytometric analysis identified a population of phenotypically unusual cells that coexpressed CD56 and CD71. Immunohistochemical findings in the marrow biopsy demonstrated that the neoplasm was alveolar rhabdomyosarcoma, further supported by the presence of a t(2;13). This unusual case demonstrates that leukemic presentations of rhabdomyosarcoma can occur in older adults in the absence of an identifiable primary tumor.
authors.affiliation: The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Jason B
authors.initials: JB
authors.lastname: Kern
authors.affiliation: Clarient Inc, 31 Columbia, Aliso Viejo, CA, USA.
authors.forename: Anselm
authors.initials: A
authors.lastname: Hii
authors.affiliation: The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Kruse
authors.affiliation: The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Szabo
authors.affiliation: The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Pedram
authors.initials: P
authors.lastname: Argani
authors.affiliation: Clarient Inc, 31 Columbia, Aliso Viejo, CA, USA.
authors.forename: Michele K
authors.initials: MK
authors.lastname: Hibbard
authors.affiliation: The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Douglas E
authors.initials: DE
authors.lastname: Gladstone
authors.affiliation: The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Christian
authors.initials: C
authors.lastname: Meyer
authors.affiliation: The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Rui
authors.initials: R
authors.lastname: Zheng
authors.affiliation: The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Borowitz
authors.affiliation: The Johns Hopkins University School of Medicine, Baltimore, MD, USA aduffie1@jhmi.edu.
authors.forename: Amy S
authors.initials: AS
authors.lastname: Duffield
mesh_terms: D005260:Female; D006801:Humans; D007938:Leukemia / Q000473:pathology*; D008875:Middle Aged; D009382:Neoplasms, Unknown Primary / Q000473:pathology*; D018232:Rhabdomyosarcoma, Alveolar / Q000473:pathology*
keywords: alveolar rhabdomyosarcoma; bone marrow; cytogenetics; flow cytometry; immunohistochemistry