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

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MDS with der(1;7)(q10;p10):is it different from MDS with -7/del(7q)?• In adults:– 1-3% of MDS– MDS with der(1;7) vs del(7q) ou -7:• Clinic and biology: differents• 5years overall survival: similar(Slovak et al., Cancer Genet Cytogenet. 2009)• In children:– 3/192 children with MDSin a recent review(Göhring et al., Blood 2010)– Pronostic?
SMD avec anomalies cytogénétiquesMonosomie 7q (64% des cellules)Trisomie 8 (84% des cellules)
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 and 12: Patient is in partial second remiss
Page 13 and 14: Other important predisposing genesf
Page 15 and 16: CONCLUSIONS• Screening for GATA2-
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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