title: Clonal cytogenetic abnormalities in Erdheim-Chester disease.
abstract: Erdheim-Chester disease (ECD) is a rare histiocytic disorder of unknown etiology that involves predominantly bone and viscera. Whether ECD represents a reactive or neoplastic process has been debated since its initial description. Herein, we report for the first time the cytogenetic findings of a case of ECD diagnosed at Mayo Clinic Rochester. The tumor occurred in the right tibia of a 35-year-old man and showed the balanced chromosomal translocation t(12;15;20)(q11;q24;p13.3), among other numeric chromosomal abnormalities. The lesion was positive for CD68 and negative for CD1a and S100. These findings support the idea that some cases of ECD are clonal neoplastic disorders of putative histiocytic differentiation. However, additional studies are warranted to confirm whether the chromosomal abnormalities found in this case represent recurrent cytogenetic events.
authors.affiliation: Division of Anatomic Pathology, Mayo Clinic, Rochester, MN 55905, USA.
authors.forename: Eneida F
authors.initials: EF
authors.lastname: Vencio
authors.forename: Robert B
authors.initials: RB
authors.lastname: Jenkins
authors.forename: Jamie L
authors.initials: JL
authors.lastname: Schiller
authors.forename: Tuong Vy T
authors.initials: TV
authors.lastname: Huynh
authors.forename: Doris D
authors.initials: DD
authors.lastname: Wenger
authors.forename: Carrie Y
authors.initials: CY
authors.lastname: Inwards
authors.forename: Andre M
authors.initials: AM
authors.lastname: Oliveira
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000378:metabolism; D015214:Antigens, Differentiation, Myelomonocytic / Q000378:metabolism; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D002871:Chromosome Banding; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D002999:Clone Cells; D031249:Erdheim-Chester Disease / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007124:Immunoenzyme Techniques; D007621:Karyotyping; D008297:Male; D011859:Radiography; D013977:Tibia / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D014178:Translocation, Genetic; D000097382:CD68 Molecule
chemical_list: D015703:Antigens, CD; D015214:Antigens, Differentiation, Myelomonocytic; C067980:CD68 antigen, human; D000097382:CD68 Molecule