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

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12-years-old boy with myelodysplastic syndrome (MDS)WBC: 1.77 x 10 9 /LNeutrophile: 0.7x10 9 /L (1.8-7.0)Lymphocyte: 0.7x10 9 /L (1.5-5.1)Monocyte: 0.1x10 9 /L (0,3-0.9)Hb: 105 g/L (VGM 114 fL)Platelet: 144 x 10 9 /LRecurrent viral infections, WartsNormal Bone Marrow (Giemsa, x100) Myelodysplastic syndrome (Giemsa, x100)
Abnormal Karyotype:47,XY,+1,der(1;7)(q10;p10),+8[17]/46,XY[4]
Page 1: GATA2 mutations screeningis recomme
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 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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