Nanopore Targeted Sequencing for Rapid Gene Mutations Detection in Acute Myeloid Leukemia.

A new interesting article has been published in Genes (Basel). 2019 Dec 9; 10(12). pii: E1026. doi: 10.3390/genes10121026. Research Support, Non-U.S. Gov’t and titled:

Nanopore Targeted Sequencing for Rapid Gene Mutations Detection in Acute Myeloid Leukemia.

Authors of this article are:

Cumbo C, Minervini CF, Orsini P, Anelli L, Zagaria A, Minervini A, Coccaro N, Impera L, Tota G, Parciante E, Conserva MR, Spinelli O, Rambaldi A, Specchia G, Albano F.

A summary of the article is shown below:

Acute myeloid leukemia (AML) clinical settings cannot do without molecular testing to confirm or rule out predictive biomarkers for prognostic stratification, in order to initiate or withhold targeted therapy. Next generation sequencing offers the advantage of the simultaneous investigation of numerous genes, but these methods remain expensive and time consuming. In this context, we present a nanopore-based assay for rapid (24 h) sequencing of six genes (NPM1, FLT3, CEBPA, TP53, IDH1 and IDH2) that are recurrently mutated in AML. The study included 22 AML patients at diagnosis; all data were compared with the results of S5 sequencing, and discordant variants were validated by Sanger sequencing. Nanopore approach showed substantial advantages in terms of speed and low cost. Furthermore, the ability to generate long reads allows a more accurate detection of longer FLT3 internal tandem duplications and phasing double CEBPA mutations. In conclusion, we propose a cheap, rapid workflow that can potentially enable all basic molecular biology laboratories to perform detailed targeted gene sequencing analysis in AML patients, in order to define their prognosis and the appropriate treatment.

Check out the article’s website on Pubmed for more information:

[link-preview url=https://www.ncbi.nlm.nih.gov/pubmed/31835432 forceshot=true]

This article is a good source of information and a good way to become familiar with topics such as: FLT3 internal tandem duplications; acute myeloid leukemia; biallelic CEBPA mutations; mutational analysis; nanopore targeted sequencing.


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