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

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HSCT is the only curative treatment• 8 cases of mutated-GATA2 patients and HSCT:– Only 2/8 related-donor HSCT– Usually very good outcome except for 2 cousins (withadditional ASXL1 acquired mutations)Cuellar-Rodrigues et al., Blood 2011Bodor et al., 2012• 6 cases with mutated-RUNX1 transplanted withcells from affected sibling donors had suboptimaloutcome– Slow, incomplete or failed engraftment(3)– Early relapse(1)for familial MDS/AML– EBV-lymphoproliferative disorders (2)Liew et al., 2011
CONCLUSIONS• Screening for GATA2-mutations should be done earlyin young MDS/AML patient and their related donors:‣ with monocytopenia or atypical mycobacterial infection‣ with familial history (in addition to RUNX1 and CEBPαscreening)• Access to molecular diagnostic laboratory in order toidentify theses patients• Bio-banking facilities for preservation of diagnosticsamples for subsequent analysis (blood, BM andsaliva)
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: Other important predisposing genesf
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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