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

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

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

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Asymp<strong>to</strong>matic lung infiltrateMycobacteriumFortuitum

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Asymp<strong>to</strong>matic lung infiltrateMycobacteriumFortuitum

Unusual MDS presentationX<strong>GATA2</strong>( )=> MonoMAC syndrome?(adapted from Dick et al.,Cell Stem Cell 2012)

Page 1 and 2: GATA2 mutations screeningis recomme
Page 3: Abnormal Karyotype:47,XY,+1,der(1;7
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 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