Introduction
Accurate detection of GATA1 mutation is highly significant in patients with acute myeloid leukemia (AML) and trisomy 21 as it allows optimization of clinical protocol. This study was aimed at (a) enhanced search for GATA1 mutations; and (b) characterization of molecular landscapes for such conditions.
Methods
The DNA samples from 44 patients with newly diagnosed de novo AML with trisomy 21 were examined by fragment analysis and Sanger sequencing of the GATA1 exon 2, complemented by targeted high‐throughput sequencing (HTS).
Results
Acquired GATA1 mutations were identified in 43 cases (98%). Additional mutations in the genes of JAK/STAT signaling, cohesin complex, and RAS pathway activation were revealed by HTS in 48%, 36%, and 16% of the cases, respectively.
Conclusions
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.
The authors present their experience gained in the first clinical use of immunological biochips for detection of cellular surface antigens for immunomorphological diagnosis of chronic lymphocytic leukemia and compare the results of this method and flow cytofluorometry.
The results of the complex treatment of 60 patients with chronic atrophic gastritis using riboxin are presented. The favourable effect of riboxin on the dynamics of the clinical manifestations of the disease, collagen metabolism in gastric juice, acid forming function parameters and ultrastructure organization of gastric mucosa is shown. These positive effects of riboxin justify its use in complex treatment of patients with chronic atrophic gastritis.
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