{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:57:42Z","timestamp":1760144262232,"version":"build-2065373602"},"reference-count":19,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T00:00:00Z","timestamp":1712275200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Center for Advancing Translational Sciences","award":["UL1TR004419"],"award-info":[{"award-number":["UL1TR004419"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The Philadelphia chromosome-negative myeloproliferative neoplasms (Ph-MPNs) are a heterogeneous group of clonal hematopoietic malignancies that include polycythemia vera (PV), essential thrombocythemia (ET), and the prefibrotic form of primary myelofibrosis (prePMF). In this study, we retrospectively reviewed the karyotypes from conventional cytogenetics (CC) and array Comparative Genomic Hybridization + Single Nucleotide Polymorphism (aCGH + SNP) in patients with ET or prePMF to determine whether the combined analysis of both methodologies can identify patients who may be at a higher risk of disease progression. We performed a comprehensive genomic review on 169 patients with a clinical diagnosis of ET (154 patients) or prePMF (15 patients). Genomic alterations detected by CC or array-CGH + SNP were detected in 36% of patients. In patients who progressed, 68% had an abnormal genomic finding by either technology. There was a shorter progression-free survival (PFS) among patients who were cytogenetically abnormal or who were cytogenetically normal but had an abnormal aCGH + SNP result. Leveraging the ability to detect submicroscopic copy number alterations and regions of copy neutral-loss of heterozygosity, we identified a higher number of patients harboring genomic abnormalities than previously reported. These results underscore the importance of genomic analysis in prognostication and provide valuable information for clinical management and treatment decisions.<\/jats:p>","DOI":"10.3390\/ijms25074061","type":"journal-article","created":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T08:27:52Z","timestamp":1712305672000},"page":"4061","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Conventional Cytogenetic Analysis and Array CGH + SNP Identify Essential Thrombocythemia and Prefibrotic Primary Myelofibrosis Patients Who Are at Risk for Disease Progression"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3033-1081","authenticated-orcid":false,"given":"Joseph","family":"Tripodi","sequence":"first","affiliation":[{"name":"Tumor CytoGenomics Laboratory, Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald","family":"Hoffman","sequence":"additional","affiliation":[{"name":"Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglas","family":"Tremblay","sequence":"additional","affiliation":[{"name":"Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daiva","family":"Ahire","sequence":"additional","affiliation":[{"name":"Tumor CytoGenomics Laboratory, Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Mascarenhas","sequence":"additional","affiliation":[{"name":"Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Kremyanskaya","sequence":"additional","affiliation":[{"name":"Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vesna","family":"Najfeld","sequence":"additional","affiliation":[{"name":"Tumor CytoGenomics Laboratory, Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1038\/s41375-022-01613-1","article-title":"The 5th Edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic\/Dendritic Neoplasms","volume":"36","author":"Khoury","year":"2022","journal-title":"Leukemia"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1038\/s41408-022-00639-z","article-title":"Cytogenetic Abnormalities in Essential Thrombocythemia: Clinical and Molecular Correlates and Prognostic Relevance in 809 Informative Cases","volume":"12","author":"Gangat","year":"2022","journal-title":"Blood Cancer J."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Kim, T.-Y., Kwag, D., Lee, J.-H., Lee, J., Min, G.-J., Park, S.-S., Park, S., Jeon, Y.-W., Yoon, J.-H., and Shin, S.-H. (2022). Clinical Features, Gene Alterations, and Outcomes in Prefibrotic and Overt Primary and Secondary Myelofibrotic Patients. Cancers, 14.","DOI":"10.3390\/cancers14184485"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2507","DOI":"10.1182\/blood-2014-05-579136","article-title":"Long-Term Survival and Blast Transformation in Molecularly Annotated Essential Thrombocythemia, Polycythemia Vera, and Myelofibrosis","volume":"124","author":"Tefferi","year":"2014","journal-title":"Blood"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1016\/j.mayocp.2017.05.010","article-title":"Leukemic Transformation in Myeloproliferative Neoplasms A Literature Review on Risk, Characteristics, and Outcome","volume":"92","author":"Yogarajah","year":"2017","journal-title":"Mayo Clin. 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Oncol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1111\/ijlh.12257","article-title":"Genomic Aberrations of Myeloproliferative and Myelodysplastic\/Myeloproliferative Neoplasms in Chronic Phase and during Disease Progression","volume":"37","author":"Hahm","year":"2015","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"e446","DOI":"10.3324\/haematol.2018.193763","article-title":"Genomic Characterization of Spleens in Patients with Myelofibrosis","volume":"103","author":"Zimran","year":"2018","journal-title":"Haematologica"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/7\/4061\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:23:53Z","timestamp":1760106233000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/7\/4061"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,5]]},"references-count":19,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2024,4]]}},"alternative-id":["ijms25074061"],"URL":"https:\/\/doi.org\/10.3390\/ijms25074061","relation":{},"ISSN":["1422-0067"],"issn-type":[{"type":"electronic","value":"1422-0067"}],"subject":[],"published":{"date-parts":[[2024,4,5]]}}}