title: Trisomies 9 and 8 detected by fluorescence in situ hybridization in patients with systemic mastocytosis.
abstract: BACKGROUND
  Systemic mastocytosis is a rare disease characterized by proliferation of mast cells in one or more organs. The origin of the mast cells is still debated, although it has been recently shown that they derive from CD34+ hematopoietic progenitors. Some clinical and in vitro studies have suggested a possible link between myeloproliferative disorders and systemic mast cell disease.
  
  
  OBJECTIVE
  This study was designed to further evaluate the association between systemic mast cell disease and other hematologic disorders by means of conventional cytogenetic analysis and fluorescent in situ hybridization.
  
  
  METHODS
  We used cytogenetic analysis and fluorescent in situ hybridization with probes to chromosomes 8 and 9 in six patients with systemic mast cell disease.
  
  
  RESULTS
  Fluorescent in situ hybridization helped to identify five patients with trisomy 9 and one with trisomy 8. In contrast, chromosomal analysis demonstrated an abnormal karyotype (45,XO/46,XY) in only one patient.
  
  
  CONCLUSIONS
  The association between myeloproliferation disorders and systemic mast cell disease may be explained by the finding that trisomy 9 and trisomy 8 are common in both disorders. A trisomy was detected in all of the patients in our small group compared with nearly 40% of previously reported patients with myeloproliferative disorders. FISH is more sensitive than conventional cytogenetics in detecting these aberrations.
authors.affiliation: Department of Medicine, Meir Hospital, Kfar Saba, Isreal.
authors.forename: M
authors.initials: M
authors.lastname: Lishner
authors.forename: R
authors.initials: R
authors.lastname: Confino-Cohen
authors.forename: Y A
authors.initials: YA
authors.lastname: Mekori
authors.forename: M
authors.initials: M
authors.lastname: Feigin
authors.forename: Y
authors.initials: Y
authors.lastname: Manor
authors.forename: A
authors.initials: A
authors.lastname: Goldberg
authors.forename: M
authors.initials: M
authors.lastname: Ravid
authors.forename: A
authors.initials: A
authors.lastname: Amiel
mesh_terms: D000328:Adult; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008415:Mastocytosis / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D014314:Trisomy