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

More documents

Recommendations

Info

Functional consequences of GATA2 mutations (1/2)N terminal frameshift mutation=> premature terminations=> non-functional protein lacking most of the C-terminal?OrDifferent translation start or activation of an alternative translationproduct downstream of the mutated nucleic acid(cf GATA1 mutations => short form of GATA1 with dominantnegative activity)=> protein with different activity=> different phenotype
Functional consequences of GATA2 mutations (2/2)OrAlteration of DNA binding and interactions with cofactors like FOG-1 and PU-1Different mutations => different effect on binding capacity(Dickinson et al., Blood 2011)Enforced expression of GATA2 in myeloid progenitors induce down-regulation ofcrucial myeloid transcription factors PU.1 and CEBPA
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 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

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

Create successful ePaper yourself

Delete template?

Save as template?