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GATA1 mutation analysis and molecular landscape characterization in acute myeloid leukemia with trisomy 21 in pediatric patients.

Agnesa PanferovaMarina GaskovaEugenyi NikitinPavel BaryshevNatalia TimofeevaAnna KazakovaViktor MatveevEkaterina MikhailovaAlexander PopovIrina KalininaLili HachatrianAleksey MaschanMichael MaschanGalina NovichkovaYulia Olshanskaya
Published in: International journal of laboratory hematology (2021)
The GATA1 mutations were reliably determined by fragment analysis and/or Sanger sequencing in a single PCR amplicon manner. For patients with extremely low blast counts and/or rare variants, the rapid screening with simple molecular approaches must be complemented with HTS. The JAK/STAT and RAS pathway-activating mutations may represent an extra option of targeted therapy with kinase inhibitors.
Keyphrases
  • transcription factor
  • signaling pathway
  • single molecule
  • copy number
  • genome wide