Academic Journal
Molecular profiling and risk classification of patients with myeloproliferative neoplasms and splanchnic vein thromboses
| العنوان: | Molecular profiling and risk classification of patients with myeloproliferative neoplasms and splanchnic vein thromboses |
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| المؤلفون: | Debureaux, Pierre-Edouard, Cassinat, Bruno, Soret-Dulphy, Juliette, Mora, Barbara, Verger, Emmanuelle, Maslah, Nabih, Plessier, Aurelie, Rautou, Pierre-Emmanuel, Ollivier-Hourman, Isabelle, De Ledinghen, Victor, Goria, Odile, Bureau, Christophe, Siracusa, Claudia, Valla, Dominique, Giraudier, Stephane, Passamonti, Francesco, Kiladjian, Jean-Jacques |
| المساهمون: | P. Debureaux, B. Cassinat, J. Soret-Dulphy, B. Mora, E. Verger, N. Maslah, A. Plessier, P. Rautou, I. Ollivier-Hourman, V. De Ledinghen, O. Goria, C. Bureau, C. Siracusa, D. Valla, S. Giraudier, F. Passamonti, J. Kiladjian |
| سنة النشر: | 2020 |
| المجموعة: | The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| مصطلحات موضوعية: | Settore MED/15 - Malattie del Sangue |
| الوصف: | Myeloproliferative neoplasms (MPNs) are the most frequent underlying causes of splanchnic vein thromboses (SVTs). MPN patients with SVTs (MPN-SVT) often have a unique presentation including younger age, female predominance, and low Janus kinase 2 (JAK2) mutation allele burden. This study aimed at identifying risk factors for adverse hematologic outcomes in MPN-SVT patients. We performed a retrospective study of a fully characterized cohort of MPN-SVT patients. The primary outcome was the incidence of evolution to myelofibrosis, acute leukemia, or death. Eighty patients were included in the testing cohort. Median follow-up was 11 years. Most of the patients were women with a mean age of 42 years and a diagnosis of polycythemia vera. The primary outcome was met in 13% of the patients and was associated with a JAK2V617F allele burden ≥50% (odds ratio [OR], 14.7) and presence of additional mutations in genes affecting chromatin/spliceosome (OR, 9). We identified high-risk patients (29% of the cohort) as those harboring at least 1 molecular risk factor: JAK2-mutant allele burden ≥50%, presence of chromatin/spliceosome/TP53 mutation. High-risk patients had worse event-free survival (81% vs 100%; P = .001) and overall survival at 10 years (89% vs 100%; P = .01) than low-risk patients. These results were confirmed in an independent validation cohort of 30 MPN-SVT patients. In conclusion, molecular profiling identified MPN-SVT patients with dismal outcome. In this high-risk population, a disease-modifying therapy should be taken into consideration to minimize the probability of transformation. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/32777065; info:eu-repo/semantics/altIdentifier/wos/WOS:000560095100027; volume:4; issue:15; firstpage:3708; lastpage:3715; numberofpages:8; journal:BLOOD ADVANCES; https://hdl.handle.net/2434/997949; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85092592471 |
| DOI: | 10.1182/bloodadvances.2020002414 |
| الاتاحة: | https://hdl.handle.net/2434/997949 https://doi.org/10.1182/bloodadvances.2020002414 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.B01BE853 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1182/bloodadvances.2020002414 |
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