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Open AccessArticle

Digital Droplet PCR is a Specific and Sensitive Tool for Detecting IDH2 Mutations in Acute Myeloid LeuKemia Patients

Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy
Hematology, Azienda Ospedaliero Universitaria Pisana (AOUP), 56126 Pisa, Italy
Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy
Author to whom correspondence should be addressed.
First co-authors.
Cancers 2020, 12(7), 1738;
Received: 14 May 2020 / Revised: 24 June 2020 / Accepted: 28 June 2020 / Published: 30 June 2020
(This article belongs to the Special Issue Hematologic Malignancy)
Isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) interfere with cellular metabolism contributing to oncogenesis. Mutations of IDH2 at R140 and R172 residues are observed in 20% of acute myeloid leukemias (AML), and the availability of the IDH2 inhibitor Enasidenib made IDH2 mutational screening a clinical need. The aim of this study was to set a new quantitative polymerase chain reaction (PCR) technique, the drop-off digital droplet PCR (drop-off ddPCR), as a sensitive and accurate tool for detecting IDH2 mutations. With this technique we tested 60 AML patients. Sanger sequencing identified 8/60 (13.5%) mutated cases, while ddPCR and the amplification refractory mutation system (ARMS) PCR, used as a reference technique, identified mutations in 13/60 (21.6%) cases. When the outcome of IDH2-mutated was compared to that of wild-type patients, no significant difference in terms of quality of response, overall survival, or progression-free survival was observed. Finally, we monitored IDH2 mutations during follow-up in nine cases, finding that IDH2 can be considered a valid marker of minimal residual disease (MRD) in 2/3 of our patients. In conclusion, a rapid screening of IDH2 mutations is now a clinical need well satisfied by ddPCR, but the role of IDH2 as a marker for MRD still remains a matter of debate. View Full-Text
Keywords: digital PCR; IDH2; AML; MRD; CPX-351; Enasidenib digital PCR; IDH2; AML; MRD; CPX-351; Enasidenib
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Grassi, S.; Guerrini, F.; Ciabatti, E.; Puccetti, R.; Salehzadeh, S.; Metelli, M.R.; Di Vita, A.; Domenichini, C.; Caracciolo, F.; Orciuolo, E.; Pelosini, M.; Mazzantini, E.; Rossi, P.; Mazziotta, F.; Petrini, M.; Galimberti, S. Digital Droplet PCR is a Specific and Sensitive Tool for Detecting IDH2 Mutations in Acute Myeloid LeuKemia Patients. Cancers 2020, 12, 1738.

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