Your browser doesn't support javascript.
loading
Molecular profiling and risk classification of patients with myeloproliferative neoplasms and splanchnic vein thromboses.
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.
Afiliación
  • Debureaux PE; Centre d'Investigations Cliniques (CIC) 1427, INSERM, Hôpital Saint-Louis, Université de Paris, Paris, France.
  • Cassinat B; Laboratoire de Biologie Cellulaire, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Soret-Dulphy J; Institut de Recherche Saint-Louis (IRSL), Unité 1131 INSERM, Université de Paris, Paris, France.
  • Mora B; Laboratoire d'Excellence GR-Ex, Paris, France.
  • Verger E; Centre d'Investigations Cliniques (CIC) 1427, INSERM, Hôpital Saint-Louis, Université de Paris, Paris, France.
  • Maslah N; Hematology, Azienda Socio-Sanitaria Territoriale (ASST) Sette Laghi, Ospedale di Circolo, Varese, Italy.
  • Plessier A; Laboratoire de Biologie Cellulaire, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Rautou PE; Laboratoire de Biologie Cellulaire, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Ollivier-Hourman I; Institut de Recherche Saint-Louis (IRSL), Unité 1131 INSERM, Université de Paris, Paris, France.
  • De Ledinghen V; Hôpital Beaujon, AP-HP, Service d'Hépatologie, Pôle des Maladies de l'Appareil Digestif, Département Hospitalo-Universitaire (DHU) Unity, Clichy, France.
  • Goria O; Centre de Référence des Maladies Vasculaires du Foie, Unité 1149 INSERM, Paris, France.
  • Bureau C; Centre de Recherche sur l'Inflammation (CRI), Université de Paris, Paris, France.
  • Siracusa C; European Reference Network (ERN) Rare Liver Diseases, Clichy, France.
  • Valla D; Hôpital Beaujon, AP-HP, Service d'Hépatologie, Pôle des Maladies de l'Appareil Digestif, Département Hospitalo-Universitaire (DHU) Unity, Clichy, France.
  • Giraudier S; Centre de Référence des Maladies Vasculaires du Foie, Unité 1149 INSERM, Paris, France.
  • Passamonti F; Centre de Recherche sur l'Inflammation (CRI), Université de Paris, Paris, France.
  • Kiladjian JJ; European Reference Network (ERN) Rare Liver Diseases, Clichy, France.
Blood Adv ; 4(15): 3708-3715, 2020 08 11.
Article en En | MEDLINE | ID: mdl-32777065
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.
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Policitemia Vera / Trombosis de la Vena / Mielofibrosis Primaria / Trastornos Mieloproliferativos Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Blood Adv Año: 2020 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Policitemia Vera / Trombosis de la Vena / Mielofibrosis Primaria / Trastornos Mieloproliferativos Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Blood Adv Año: 2020 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos