PMID- 21494030
OWN - NLM
STAT- MEDLINE
DCOM- 20111013
LR  - 20161125
IS  - 1421-9662 (Electronic)
IS  - 0001-5792 (Linking)
VI  - 126
IP  - 2
DP  - 2011
TI  - Absence of mutations on the SNF5 gene in hematological neoplasms with chromosome 
      22 abnormalities.
PG  - 69-75
LID - 10.1159/000324932 [doi]
AB  - 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. CONCLUSION: 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.
CI  - Copyright (c) 2011 S. Karger AG, Basel.
FAU - Mori, Naoki
AU  - Mori N
AD  - Department of Hematology, Tokyo Women's Medical University, Tokyo, Japan. 
      mori@dh.twmu.ac.jp
FAU - Inoue, Kaoru
AU  - Inoue K
FAU - Okada, Michiko
AU  - Okada M
FAU - Motoji, Toshiko
AU  - Motoji T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110413
PL  - Switzerland
TA  - Acta Haematol
JT  - Acta haematologica
JID - 0141053
RN  - 0 (Chromosomal Proteins, Non-Histone)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (SMARCB1 Protein)
RN  - 0 (SMARCB1 protein, human)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Blast Crisis/genetics
MH  - Chromosomal Proteins, Non-Histone/*genetics
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Cytogenetic Analysis
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - Genetic Association Studies
MH  - Hematologic Neoplasms/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Japan
MH  - Leukemia, Myeloid, Chronic-Phase/genetics
MH  - Loss of Heterozygosity
MH  - Male
MH  - Middle Aged
MH  - Multiple Myeloma/genetics
MH  - *Polymorphism, Genetic
MH  - Polymorphism, Single-Stranded Conformational
MH  - SMARCB1 Protein
MH  - Transcription Factors/*genetics
EDAT- 2011/04/16 06:00
MHDA- 2011/10/14 06:00
CRDT- 2011/04/16 06:00
PHST- 2010/10/13 00:00 [received]
PHST- 2011/02/07 00:00 [accepted]
PHST- 2011/04/16 06:00 [entrez]
PHST- 2011/04/16 06:00 [pubmed]
PHST- 2011/10/14 06:00 [medline]
AID - 000324932 [pii]
AID - 10.1159/000324932 [doi]
PST - ppublish
SO  - Acta Haematol. 2011;126(2):69-75. doi: 10.1159/000324932. Epub 2011 Apr 13.