Acute myeloid leukemia is a heterogeneous hematological disease, characterized by karyotypic and molecular alterations. Mutations in IDH2 have a role in diagnosis and as a minimal residue disease marker. Often the variant allele frequency during follow up is less than 20%, which represents the limit of detection of Sanger sequencing. Therefore, the development of sensitive methodologies to identify IDH2 mutations might help to monitor patients' response to therapy. We compared three different methods to identify and monitor IDH2 mutations in patients' specimens.

Highly Sensitive Detection of IDH2 Mutations in Acute Myeloid Leukemia

Petiti, Jessica
;
Rosso, Valentina;Croce, Eleonora;Franceschi, Vanessa;Andreani, Giacomo;Dragani, Matteo;De Gobbi, Marco;Saglio, Giuseppe;Fava, Carmen;Lo Iacono, Marco
Co-last
;
Cilloni, Daniela
Co-last
2020-01-01

Abstract

Acute myeloid leukemia is a heterogeneous hematological disease, characterized by karyotypic and molecular alterations. Mutations in IDH2 have a role in diagnosis and as a minimal residue disease marker. Often the variant allele frequency during follow up is less than 20%, which represents the limit of detection of Sanger sequencing. Therefore, the development of sensitive methodologies to identify IDH2 mutations might help to monitor patients' response to therapy. We compared three different methods to identify and monitor IDH2 mutations in patients' specimens.
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AML; IDH2 R140Q; IDH2 R172K; PNA-PCR clamping; diagnostic assay; droplet digital PCR
Petiti, Jessica; Rosso, Valentina; Croce, Eleonora; Franceschi, Vanessa; Andreani, Giacomo; Dragani, Matteo; De Gobbi, Marco; Lunghi, Monia; Saglio, Giuseppe; Fava, Carmen; Lo Iacono, Marco; Cilloni, Daniela
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1730550
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