title: Absence of mutations on the SNF5 gene in hematological neoplasms with chromosome 22 abnormalities.
abstract: BACKGROUND
  The relation with SNF5 mutation and chromosome 22 abnormalities is not clear in hematological neoplasms.
  
  
  METHODS
  To elucidate the relevance of the SNF5 gene on 22q11.2, karyotypes were reviewed in 283 hematological neoplasms. Loss of heterozygosity (LOH) on 22q was analyzed in 21 plasma cell myelomas without chromosome 22 abnormalities. Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) on the SNF5 gene was analyzed in 8 hematological neoplasms with 22q- or -22, and 8 chronic myelogenous leukemias (CMLs) in blast crisis. Fluorescence in situ hybridization (FISH) was performed in 1 myelodysplastic syndrome (MDS) case with -22,del(22)(q11.2 q13).
  
  
  RESULTS
  22q- or -22 was observed in 36 patients. LOH on 22q was detected in 1 of the 21 myelomas. Mobility shifts were found by PCR-SSCP analysis in 2 CMLs, whereas sequence analysis showed polymorphisms. FISH analysis revealed the SNF5 gene was not deleted in the MDS case.
  
  
  CONCLUSIONS
  These results suggest that alterations of the SNF5 gene are rare in hematological neoplasms with chromosome 22 abnormalities. Haploinsufficiency may contribute to the development of these neoplasms.
authors.affiliation: Department of Hematology, Tokyo Women's Medical University, Tokyo, Japan. mori@dh.twmu.ac.jp
authors.forename: Naoki
authors.initials: N
authors.lastname: Mori
authors.forename: Kaoru
authors.initials: K
authors.lastname: Inoue
authors.forename: Michiko
authors.initials: M
authors.lastname: Okada
authors.forename: Toshiko
authors.initials: T
authors.lastname: Motoji
mesh_terms: D000328:Adult; D000368:Aged; D001752:Blast Crisis / Q000235:genetics; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D020732:Cytogenetic Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D019337:Hematologic Neoplasms / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007564:Japan; D015466:Leukemia, Myeloid, Chronic-Phase / Q000235:genetics; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D009101:Multiple Myeloma / Q000235:genetics; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D000071796:SMARCB1 Protein; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors