title: A near-haploid bone marrow karyotype in systemic mast cell disease: is it characteristic of the disease or an incidental finding?
abstract: We present the case of a 40-year-old man with aggressive systemic mast cell disease. The patient had a predominant near-haploid clone in his bone marrow cells, detected by cytogenetic analysis performed at the time of diagnosis. The similarities between this case and a previously published case of near-haploidy in a patient with malignant mastocytosis suggest that near-haploidy may be a characteristic of aggressive systemic mast cell disease rather than an incidental finding.
authors.affiliation: Department of Human Genetics, University of Pittsburgh, Graduate School of Public Health, Pennsylvania 15213, USA.
authors.forename: S
authors.initials: S
authors.lastname: Shekhter-Levin
authors.forename: E
authors.initials: E
authors.lastname: Ball
authors.forename: S H
authors.initials: SH
authors.lastname: Swerdlow
authors.forename: W V
authors.initials: WV
authors.lastname: Li
authors.forename: S B
authors.initials: SB
authors.lastname: Kapadia
authors.forename: M E
authors.initials: ME
authors.lastname: Sherer
authors.forename: N
authors.initials: N
authors.lastname: Wald
authors.forename: S M
authors.initials: SM
authors.lastname: Gollin
mesh_terms: D000328:Adult; D001854:Bone Marrow Cells / Q000473:pathology*; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D017809:Fatal Outcome; D006238:Haploidy; D006801:Humans; D007621:Karyotyping; D008297:Male; D008415:Mastocytosis / Q000235:genetics* / Q000473:pathology*; D009030:Mosaicism / Q000235:genetics / Q000473:pathology