Acta haematologica · 2011
Absence of mutations on the SNF5 gene in hematological neoplasms with chromosome 22 abnormalities.
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Mori Naoki, Inoue Kaoru, Okada Michiko, Motoji Toshiko
Аннотация
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.
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.
Предметные рубрики MeSH
AdultAgedBlast CrisisChromosomal Proteins, Non-HistoneChromosome AberrationsChromosomes, Human, Pair 22Cytogenetic AnalysisDNA-Binding ProteinsFemaleGenetic Association StudiesHematologic NeoplasmsHumansIn Situ Hybridization, FluorescenceJapanLeukemia, Myeloid, Chronic-PhaseLoss of HeterozygosityMaleMiddle AgedMultiple MyelomaPolymorphism, GeneticPolymorphism, Single-Stranded ConformationalSMARCB1 ProteinTranscription Factors