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

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AcknowledgementDr Sonia CellotLouise LaraméeBenjamin TurgeonVirginie Dormoy-RacletDr Sonia Cellot LaboratoryResearch CenterCHU Sainte-JustineDr Pierre TeiraDr Henrique BittencourtDr Michel DuvalDr Élie HaddadPediatric Hematology-Oncology& Pediatric ImmunologyCHU Sainte-JustineDr Josée HébertAmélie GiguèreBanque de Cellules Leucémiques du QuébecHôpital Maisonneuve-Rosemont
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: CONCLUSIONS• Screening for GATA2-
Page 19 and 20: SMD avec anomalies cytogénétiques
Page 21 and 22: MonoMAC syndrome: frequent familial
Page 23 and 24: GATA2 mutations leads to Loss of Fu
Page 25 and 26: Loss of function or dominant negati
Page 27: Functional consequences of GATA2 mu

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

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