GATA2 mutations screening is recommended prior to ... - CBMTG

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Characteristics of GATA2 mutationsLoss of Function« Silent » carriers?Impaired DNA binding capacity(Hahn et al., Nature Genetics 2011)GATA2 mutationsecond hit(Dickinson et al., Blood 2011)MDS-AML
Other important predisposing genesfor familial MDS/AMLRUNX1CEBPαRHD TADTAD1 TAD2 bZIPMutationsHot SpotMutationsHot Spot=> Familial Platelet DisorderSong et al., 1999=> Familial AMLSmith et al., 2004=> Loss of function=> Autosomal dominanttransmission=> Loss of function=> Autosomal dominanttransmission
Page 1 and 2: GATA2 mutations screeningis recomme
Page 3 and 4: Abnormal Karyotype:47,XY,+1,der(1;7
Page 5 and 6: Unusual MDS presentationXGATA2( )=>
Page 7 and 8: Several GATA2 mutations are describ
Page 9 and 10: Diagnostic test design:=> GATA2 mut
Page 11: Patient is in partial second remiss
Page 15 and 16: CONCLUSIONS• Screening for GATA2-
Page 18 and 19: MDS with der(1;7)(q10;p10):is it di
Page 20 and 21: GATA2 mutations have been recently
Page 22 and 23: Mutation GATA2 c.1186 CT (R396W)Pat
Page 24 and 25: What about silent carriers?Anticipa
Page 26 and 27: Functional consequences of GATA2 mu

GATA2 mutations screening is recommended prior to ... - CBMTG

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