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

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Familial pedigreeColon cancer Bone cancer? AbdominalCancer?R396R396R396Wde novo GATA2 mutationWith MonoMAC SyndromeAnd MDSR396
Patient is in partial second remissionBUSULFAN14 mg/kg total(targeted concentration800 ng/ml)+CYCLOPHOSPHAMIDE200 mg/kg totalCYCLOSPORIN5mg/kg/d+RELAPSE+9mFLAG-Idare-inductionDLID+100D+100PartialremissionMETHOTREXATE15mg/m2 x1 then10mg/m2 x2 dosesAntibioticsAntibiotics
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: Diagnostic test design:=> GATA2 mut
Page 13 and 14: Other important predisposing genesf
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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