{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:54:16Z","timestamp":1792065256083,"version":"4.4.0"},"reference-count":34,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T00:00:00Z","timestamp":1748476800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Background: Sanger sequencing remains the gold standard for characterizing genetic variants in short DNA fragments (&lt;700 bp). However, the increasing demand for short TATs and high sensitivities in variant detection, particularly in oncohematology, is driving the need for more efficient methods. Next-generation sequencing (NGS) has improved sensitivity and allows for the simultaneous analysis of multiple genes, but it is still costly and time-consuming. Consequently, Sanger sequencing continues to be widely used. In this study, we have compared Sanger sequencing with Oxford Nanopore technology (ONT), which offers enhanced sensitivity and faster sequencing, delivering diagnostic results within 24 h. Methods: This study involves 164 samples (for a total of 174 analyzed regions of interest) previously characterized using either Sanger sequencing or a next-generation sequencing (NGS) panel, categorized by their genetic alterations. Validation was conducted on 15 genes crucial for the diagnosis, prognosis, or identification of drug resistance in myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and chronic myeloid leukemia (CML). The primary objective was to assess whether MinION could identify the same variants previously detected in these patients. Results and Conclusions: With a 99.43% concordance observed in our comparison, our results support the implementation of MinION technology in routine variant detection in MPN, MDS, AML, and CML cases due to its significant advantages over Sanger sequencing.<\/jats:p>","DOI":"10.3390\/cancers17111811","type":"journal-article","created":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T03:30:19Z","timestamp":1748489419000},"page":"1811","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["From Sanger to Oxford Nanopore MinION Technology: The Impact of Third-Generation Sequencing on Genetic Hematological Diagnosis"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0667-1959","authenticated-orcid":false,"given":"Mar\u00eda Jos\u00e9","family":"Larr\u00e1yoz","sequence":"first","affiliation":[{"name":"Hematological Diseases Laboratory, CIMA LAB Diagnostics, Clinica Universidad de Navarra, 31008 Pamplona, Spain"},{"name":"Navarra Institute for Health Research (IdiSNA), 31008 Pamplona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-5604-0594","authenticated-orcid":false,"given":"Pablo","family":"Luri-Martin","sequence":"additional","affiliation":[{"name":"Hematological Diseases Laboratory, CIMA LAB Diagnostics, Clinica Universidad de Navarra, 31008 Pamplona, Spain"},{"name":"Traslational Hematology Program, Center for Applied Medical Research (CIMA), Cancer Center University of Navarra (CCUN), 31008 Pamplona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-0014-2557","authenticated-orcid":false,"given":"Amagoia","family":"Ma\u00f1u","sequence":"additional","affiliation":[{"name":"Hematological Diseases Laboratory, CIMA LAB Diagnostics, Clinica Universidad de Navarra, 31008 Pamplona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-1235-4981","authenticated-orcid":false,"given":"Oihane","family":"Churruca","sequence":"additional","affiliation":[{"name":"Hematological Diseases Laboratory, CIMA LAB Diagnostics, Clinica Universidad de Navarra, 31008 Pamplona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-0466-2093","authenticated-orcid":false,"given":"Natalia","family":"Gordillo","sequence":"additional","affiliation":[{"name":"Hematological Diseases Laboratory, CIMA LAB Diagnostics, Clinica Universidad de Navarra, 31008 Pamplona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irache","family":"Erdozain","sequence":"additional","affiliation":[{"name":"Hematological Diseases Laboratory, CIMA LAB Diagnostics, Clinica Universidad de Navarra, 31008 Pamplona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4590-0999","authenticated-orcid":false,"given":"Ada","family":"Esteban-Figuerola","sequence":"additional","affiliation":[{"name":"Special Hematology Laboratory, Hematology Department, San Pedro Hospital, 26006 Logro\u00f1o, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"de Miguel","sequence":"additional","affiliation":[{"name":"Department of Hematology, Hospital Universitario de \u00c1lava\u2014Sede Txagorritxu, 01009 Vitoria-Gasteiz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4411-104X","authenticated-orcid":false,"given":"Diego","family":"Robles","sequence":"additional","affiliation":[{"name":"Department of Hematology, Hospital Universitario de \u00c1lava\u2014Sede Txagorritxu, 01009 Vitoria-Gasteiz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0959-9449","authenticated-orcid":false,"given":"Mar\u00eda","family":"Garc\u00eda-Fortes","sequence":"additional","affiliation":[{"name":"Hematology Department, Hospital Universitario Virgen de la Victoria, 29010 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1649-8478","authenticated-orcid":false,"given":"Jos\u00e9","family":"Rif\u00f3n Roca","sequence":"additional","affiliation":[{"name":"Navarra Institute for Health Research (IdiSNA), 31008 Pamplona, Spain"},{"name":"Hematology Department, Clinica Universidad de Navarra (CUN), Cancer Center University of Navarra (CCUN), 31008 Pamplona, Spain"},{"name":"CIBERONC, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2478-5354","authenticated-orcid":false,"given":"Ana","family":"Alfonso-Pierola","sequence":"additional","affiliation":[{"name":"Navarra Institute for Health Research (IdiSNA), 31008 Pamplona, Spain"},{"name":"Hematology Department, Clinica Universidad de Navarra (CUN), Cancer Center University of Navarra (CCUN), 31008 Pamplona, Spain"},{"name":"CIBERONC, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6115-8790","authenticated-orcid":false,"given":"Felipe","family":"Pr\u00f3sper","sequence":"additional","affiliation":[{"name":"Navarra Institute for Health Research (IdiSNA), 31008 Pamplona, Spain"},{"name":"Traslational Hematology Program, Center for Applied Medical Research (CIMA), Cancer Center University of Navarra (CCUN), 31008 Pamplona, Spain"},{"name":"Hematology Department, Clinica Universidad de Navarra (CUN), Cancer Center University of Navarra (CCUN), 31008 Pamplona, Spain"},{"name":"CIBERONC, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Be\u00f1at","family":"Ariceta","sequence":"additional","affiliation":[{"name":"Navarra Institute for Health Research (IdiSNA), 31008 Pamplona, Spain"},{"name":"Traslational Hematology Program, Center for Applied Medical Research (CIMA), Cancer Center University of Navarra (CCUN), 31008 Pamplona, Spain"},{"name":"CIBERONC, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Calasanz","sequence":"additional","affiliation":[{"name":"Hematological Diseases Laboratory, CIMA LAB Diagnostics, Clinica Universidad de Navarra, 31008 Pamplona, Spain"},{"name":"Navarra Institute for Health Research (IdiSNA), 31008 Pamplona, Spain"},{"name":"CIBERONC, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1002\/ajh.26118","article-title":"Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management","volume":"96","author":"Pardanani","year":"2021","journal-title":"Am. J. Hematol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/s11899-024-00737-8","article-title":"Systemic Mastocytosis: State of the Art","volume":"19","author":"Farmer","year":"2024","journal-title":"Curr. Hematol. Malig. Rep."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1182\/blood.2019000932","article-title":"New developments in diagnosis, prognostication, and treatment of advanced systemic mastocytosis","volume":"135","author":"Reiter","year":"2020","journal-title":"Blood"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"e7134","DOI":"10.1002\/ccr3.7134","article-title":"A case of high-risk AML in a patient with advanced systemic mastocytosis","volume":"11","author":"Fazio","year":"2023","journal-title":"Clin. Case Rep."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Wang, R., Xu, P., Chang, L.L., Zhang, S.Z., and Zhu, H.H. (2022). Targeted therapy in NPM1-mutated AML: Knowns and unknowns. Front. Oncol., 12.","DOI":"10.3389\/fonc.2022.972606"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1452","DOI":"10.1002\/ajh.26989","article-title":"NPM1-mutated acute myeloid leukemia: New pathogenetic and therapeutic insights and open questions","volume":"98","author":"Falini","year":"2023","journal-title":"Am. J. Hematol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1038\/s41408-023-00898-4","article-title":"Favorable outcomes of NPM1mut AML patients are due to transcriptional inactivation of FOXM1, presenting a new target to overcome chemoresistance","volume":"13","author":"Khan","year":"2023","journal-title":"Blood Cancer J."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Minervini, C.F., Cumbo, C., Orsini, P., Anelli, L., Zagaria, A., Specchia, G., and Albano, F. (2020). Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities. Front. Genet., 11.","DOI":"10.3389\/fgene.2020.00076"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1016\/j.tig.2021.11.003","article-title":"A blood drop through the pore: Nanopore sequencing in hematology","volume":"38","author":"Bartalucci","year":"2022","journal-title":"Trends Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1261\/rna.078937.121","article-title":"Nanopore sequencing of RNA and cDNA molecules in Escherichia coli","volume":"28","author":"Grohmann","year":"2022","journal-title":"RNA"},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Sheka, D., Alabi, N., and Gordon, P.M.K. (2021). Oxford nanopore sequencing in clinical microbiology and infection diagnostics. Brief. Bioinform., 22.","DOI":"10.1093\/bib\/bbaa403"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/978-1-0716-0868-5_9","article-title":"Applications of Oxford Nanopore Sequencing in Schizosaccharomyces pombe","volume":"2196","author":"He","year":"2021","journal-title":"Methods Mol. Biol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1126\/science.aau9343","article-title":"Metagenomic sequencing at the epicenter of the Nigeria 2018 Lassa fever outbreak","volume":"363","author":"Kafetzopoulou","year":"2019","journal-title":"Science"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"331","DOI":"10.3201\/eid2202.151796","article-title":"Nanopore Sequencing as a Rapidly Deployable Ebola Outbreak Tool","volume":"22","author":"Hoenen","year":"2016","journal-title":"Emerg. Infect. Dis."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1186\/s13000-016-0550-y","article-title":"TP53 gene mutation analysis in chronic lymphocytic leukemia by nanopore MinION sequencing","volume":"11","author":"Minervini","year":"2016","journal-title":"Diagn. Pathol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.yexmp.2017.06.007","article-title":"Mutational analysis in BCR-ABL1 positive leukemia by deep sequencing based on nanopore MinION technology","volume":"103","author":"Minervini","year":"2017","journal-title":"Exp. Mol. Pathol."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Orsini, P., Minervini, C.F., Cumbo, C., Anelli, L., Zagaria, A., Minervini, A., Coccaro, N., Tota, G., Casieri, P., and Impera, L. (2018). Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia. Sci. Rep., 8.","DOI":"10.1038\/s41598-018-30330-y"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Cumbo, C., Minervini, C.F., Orsini, P., Anelli, L., Zagaria, A., Minervini, A., Coccaro, N., Impera, L., Tota, G., and Parciante, E. (2019). Nanopore Targeted Sequencing for Rapid Gene Mutations Detection in Acute Myeloid Leukemia. Genes, 10.","DOI":"10.3390\/genes10121026"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1038\/s41587-020-0439-x","article-title":"The nf-core framework for community-curated bioinformatics pipelines","volume":"38","author":"Ewels","year":"2020","journal-title":"Nat. Biotechnol."},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"McLaren, W., Gil, L., Hunt, S.E., Riat, H.S., Ritchie, G.R., Thormann, A., Flicek, P., and Cunningham, F. (2016). The Ensembl Variant Effect Predictor. Genome Biol., 17.","DOI":"10.1186\/s13059-016-0974-4"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"163","DOI":"10.21037\/tp.2020.03.06","article-title":"The third generation sequencing: The advanced approach to genetic diseases","volume":"9","author":"Xiao","year":"2020","journal-title":"Transl. Pediatr."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Mantere, T., Kersten, S., and Hoischen, A. (2019). Long-Read Sequencing Emerging in Medical Genetics. Front. Genet., 10.","DOI":"10.3389\/fgene.2019.00426"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.cell.2013.09.006","article-title":"The next-generation sequencing revolution and its impact on genomics","volume":"155","author":"Koboldt","year":"2013","journal-title":"Cell"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1007\/s13311-014-0288-8","article-title":"Next generation sequencing and the future of genetic diagnosis","volume":"11","author":"Lohmann","year":"2014","journal-title":"Neurotherapeutics"},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Kamps, R., Brand\u00e3o, R.D., Bosch, B.J., Paulussen, A.D., Xanthoulea, S., Blok, M.J., and Romano, A. (2017). Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification. Int. J. Mol. Sci., 18.","DOI":"10.3390\/ijms18020308"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/s12253-016-0124-z","article-title":"Clinical Applications of Next-Generation Sequencing in Cancer Diagnosis","volume":"23","author":"Sabour","year":"2017","journal-title":"Pathol. Oncol. Res."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Coccaro, N., Anelli, L., Zagaria, A., Specchia, G., and Albano, F. (2019). Next-Generation Sequencing in Acute Lymphoblastic Leukemia. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20122929"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1080\/14737159.2017.1332996","article-title":"Utilizing next-generation sequencing in the management of multiple myeloma","volume":"17","author":"Lionetti","year":"2017","journal-title":"Expert. Rev. Mol. Diagn."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1016\/j.tig.2018.05.008","article-title":"The Third Revolution in Sequencing Technology","volume":"34","author":"Jaszczyszyn","year":"2018","journal-title":"Trends Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1007\/978-1-4939-8935-5_31","article-title":"An Overview of DNA Analytical Methods","volume":"1897","author":"Arboleda","year":"2019","journal-title":"Methods Mol. Biol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1055\/s-0039-1688446","article-title":"Next-Generation Sequencing and Emerging Technologies","volume":"45","author":"Kumar","year":"2019","journal-title":"Semin. Thromb. Hemost."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1016\/j.humimm.2021.02.012","article-title":"Next-generation sequencing technologies: An overview","volume":"82","author":"Hu","year":"2021","journal-title":"Hum. Immunol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"102977","DOI":"10.1016\/j.critrevonc.2020.102977","article-title":"Current concepts and future directions for hemato-oncologic diagnostics","volume":"151","author":"Flach","year":"2020","journal-title":"Crit. Rev. Oncol. Hematol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"157","DOI":"10.4103\/sni.sni_55_18","article-title":"MinION rapid sequencing: Review of potential applications in neurosurgery","volume":"9","author":"Patel","year":"2018","journal-title":"Surg. Neurol. Int."}],"container-title":["Cancers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2072-6694\/17\/11\/1811\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:42:45Z","timestamp":1760031765000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2072-6694\/17\/11\/1811"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,29]]},"references-count":34,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,6]]}},"alternative-id":["cancers17111811"],"URL":"https:\/\/doi.org\/10.3390\/cancers17111811","relation":{},"ISSN":["2072-6694"],"issn-type":[{"value":"2072-6694","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,29]]}}}