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Open AccessArticle

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

1
Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy
2
Hematology, Azienda Ospedaliero Universitaria Pisana (AOUP), 56126 Pisa, Italy
3
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; https://doi.org/10.3390/cancers12071738
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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