{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T07:06:44Z","timestamp":1762672004255,"version":"build-2065373602"},"reference-count":49,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,4,18]],"date-time":"2021-04-18T00:00:00Z","timestamp":1618704000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto de Salud Carlos III","award":["PI16\/01113, PI16\/00665, PI\/17\/0575, PI18\/1472 and PI19\/00812"],"award-info":[{"award-number":["PI16\/01113, PI16\/00665, PI\/17\/0575, PI18\/1472 and PI19\/00812"]}]},{"name":"Conseller\u00eda de Educaci\u00f3n, Cultura y Deporte","award":["GV\/2019\/084"],"award-info":[{"award-number":["GV\/2019\/084"]}]},{"name":"Generalitat de Catalunya","award":["2017 SGR288 (GRC)"],"award-info":[{"award-number":["2017 SGR288 (GRC)"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Myelodysplastic syndromes (MDS) and myelodysplastic\/myeloproliferative neoplasms are clonal disorders that share most of their cytogenetic and molecular alterations. Despite the increased knowledge of the prognostic importance of genetics in these malignancies, next-generation sequencing (NGS) has not been incorporated into clinical practice in a validated manner, and the conventional karyotype remains mandatory in the evaluation of suspected cases. However, non-informative cytogenetics might lead to an inadequate estimation of the prognostic risk. Here, we present a novel targeted NGS-based assay for the simultaneous detection of all the clinically relevant genetic alterations associated with these disorders. We validated this platform in a large cohort of patients by performing a one-to-one comparison with the lesions from karyotype and single-nucleotide polymorphism (SNP) arrays. Our strategy demonstrated an approximately 97% concordance with standard clinical assays, showing sensitivity at least equivalent to that of SNP arrays and higher than that of conventional cytogenetics. In addition, this NGS assay was able to identify both copy-neutral loss of heterozygosity events distributed genome-wide and copy number alterations, as well as somatic mutations within significant driver genes. In summary, we show a novel NGS platform that represents a significant improvement to current strategies in defining diagnosis and risk stratification of patients with MDS and myeloid-related disorders.<\/jats:p>","DOI":"10.3390\/cancers13081947","type":"journal-article","created":{"date-parts":[[2021,4,18]],"date-time":"2021-04-18T22:15:13Z","timestamp":1618784113000},"page":"1947","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A Single-Run Next-Generation Sequencing (NGS) Assay for the Simultaneous Detection of Both Gene Mutations and Large Chromosomal Abnormalities in Patients with Myelodysplastic Syndromes (MDS) and Related Myeloid Neoplasms"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4842-5986","authenticated-orcid":false,"given":"Alessandro","family":"Liquori","sequence":"first","affiliation":[{"name":"Hematology Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iv\u00e1n","family":"Lesende","sequence":"additional","affiliation":[{"name":"Universidade de A Coru\u00f1a (UDC), 15006 A Coru\u00f1a, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3176-6271","authenticated-orcid":false,"given":"Laura","family":"Palomo","sequence":"additional","affiliation":[{"name":"MDS Research Group, Institut de Recerca Contra la Leuc\u00e8mia Josep Carreras, Institut Catal\u00e0 d\u2019Oncologia-Hospital Germans Trias i Pujol, Universitat Aut\u00f2noma de Barcelona, 08916 Badalona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gayane","family":"Avetisyan","sequence":"additional","affiliation":[{"name":"Hematology Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariam","family":"Ib\u00e1\u00f1ez","sequence":"additional","affiliation":[{"name":"Hematology Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Gonz\u00e1lez-Romero","sequence":"additional","affiliation":[{"name":"Hematology Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mireia","family":"Boluda-Navarro","sequence":"additional","affiliation":[{"name":"Hematology Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mireya","family":"Morote-Faubel","sequence":"additional","affiliation":[{"name":"Hematology Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2914-7914","authenticated-orcid":false,"given":"Cristian","family":"Garcia-Ruiz","sequence":"additional","affiliation":[{"name":"Hematology Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Martinez-Valiente","sequence":"additional","affiliation":[{"name":"Hematology Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Santiago-Balsera","sequence":"additional","affiliation":[{"name":"Hematology Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0679-2905","authenticated-orcid":false,"given":"In\u00e9s","family":"Gomez-Segu\u00ed","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC), 28029 Madrid, Spain"},{"name":"Department of Hematology, Hospital Universitario y Polit\u00e9cnico La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandra","family":"Sanjuan-Pla","sequence":"additional","affiliation":[{"name":"Hematology Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1489-1177","authenticated-orcid":false,"given":"Miguel A.","family":"Sanz","sequence":"additional","affiliation":[{"name":"Hematology Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2767-8191","authenticated-orcid":false,"given":"Guillermo","family":"Sanz","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC), 28029 Madrid, Spain"},{"name":"Department of Hematology, Hospital Universitario y Polit\u00e9cnico La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3251-2161","authenticated-orcid":false,"given":"Francesc","family":"Sol\u00e9","sequence":"additional","affiliation":[{"name":"MDS Research Group, Institut de Recerca Contra la Leuc\u00e8mia Josep Carreras, Institut Catal\u00e0 d\u2019Oncologia-Hospital Germans Trias i Pujol, Universitat Aut\u00f2noma de Barcelona, 08916 Badalona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esperanza","family":"Such","sequence":"additional","affiliation":[{"name":"Hematology Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC), 28029 Madrid, Spain"},{"name":"Department of Hematology, Hospital Universitario y Polit\u00e9cnico La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8252-1106","authenticated-orcid":false,"given":"Jos\u00e9","family":"Cervera","sequence":"additional","affiliation":[{"name":"Hematology Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC), 28029 Madrid, Spain"},{"name":"Genetics Unit, Hospital Universitario y Polit\u00e9cnico La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2391","DOI":"10.1182\/blood-2016-03-643544","article-title":"The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia","volume":"127","author":"Arber","year":"2016","journal-title":"Blood"},{"key":"ref_2","unstructured":"Swerdlow, S.H., Campo, E., Harris, N.L., Jaffe, E.S., Pileri, S.A., and Stein, H.T.J. 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