Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology.

Autor: Garrote M; Facultat de Medicina, Universitat de Barcelona, Barcelona, Spain. garrote@clinic.cat.; Hematopathology Unit, Pathology Department, Hospital Clínic, Barcelona, Spain. garrote@clinic.cat.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. garrote@clinic.cat., López-Guerra M; Hematopathology Unit, Pathology Department, Hospital Clínic, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Centro Investigación Biomédica en Red (CIBER) Oncología (CIBERONC) y Enfermedades Hepáticas y Digestivas (CIBEREHED), Madrid, Spain., García-Pagán JC; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Centro Investigación Biomédica en Red (CIBER) Oncología (CIBERONC) y Enfermedades Hepáticas y Digestivas (CIBEREHED), Madrid, Spain.; Barcelona Hepatic Hemodynamic Lab, Liver Unit, Hospital Clínic, Barcelona, Spain., Arellano-Rodrigo E; Hemotherapy and Hemostasis Department, Hospital Clínic, Barcelona, Spain., Ferrer-Marín F; Hematology Department, Hospital Morales-Messeguer, Murcia, Spain., Hernández-Boluda JC; Hematology Department, Hospital Clínico-INCLIVA, Valencia, Spain., Bellosillo B; Centro Investigación Biomédica en Red (CIBER) Oncología (CIBERONC) y Enfermedades Hepáticas y Digestivas (CIBEREHED), Madrid, Spain.; Pathology Department, Hospital del Mar, Barcelona, Spain., Nomdedeu M; Hemotherapy and Hemostasis Department, Hospital Clínic, Barcelona, Spain., Hernández-Gea V; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Centro Investigación Biomédica en Red (CIBER) Oncología (CIBERONC) y Enfermedades Hepáticas y Digestivas (CIBEREHED), Madrid, Spain.; Barcelona Hepatic Hemodynamic Lab, Liver Unit, Hospital Clínic, Barcelona, Spain., Triguero A; Hematology Department, Hospital Clínic, Barcelona, Spain., Guijarro F; Hematopathology Unit, Pathology Department, Hospital Clínic, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Álamo J; Hematopathology Unit, Pathology Department, Hospital Clínic, Barcelona, Spain., Baiges A; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Centro Investigación Biomédica en Red (CIBER) Oncología (CIBERONC) y Enfermedades Hepáticas y Digestivas (CIBEREHED), Madrid, Spain.; Barcelona Hepatic Hemodynamic Lab, Liver Unit, Hospital Clínic, Barcelona, Spain., Turon F; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Centro Investigación Biomédica en Red (CIBER) Oncología (CIBERONC) y Enfermedades Hepáticas y Digestivas (CIBEREHED), Madrid, Spain.; Barcelona Hepatic Hemodynamic Lab, Liver Unit, Hospital Clínic, Barcelona, Spain., Colomer D; Facultat de Medicina, Universitat de Barcelona, Barcelona, Spain.; Hematopathology Unit, Pathology Department, Hospital Clínic, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Centro Investigación Biomédica en Red (CIBER) Oncología (CIBERONC) y Enfermedades Hepáticas y Digestivas (CIBEREHED), Madrid, Spain., Cervantes F; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Alvarez-Larrán A; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Hematology Department, Hospital Clínic, Barcelona, Spain.
Jazyk: angličtina
Zdroj: Annals of hematology [Ann Hematol] 2024 Mar; Vol. 103 (3), pp. 737-747. Date of Electronic Publication: 2024 Jan 24.
DOI: 10.1007/s00277-023-05610-x
Abstrakt: To elucidate the role of splanchnic vein thrombosis (SVT) and genomic characteristics in prognosis and survival, we compared patients with polycythemia vera (PV) or essential thrombocythemia (ET) presenting SVT at diagnosis (n = 69, median age 43 years) or during follow-up (n = 21, median age 46 years) to a sex- and age-matched control group of PV/ET without SVT (n = 165, median age 48 years). The majority of patients presenting with SVT at diagnosis were classified as myeloproliferative neoplasm with heterozygous JAK2 mutation (87% of cases vs. 69% in PV/ET control group, p < 0.05), characterized by low JAK2 allele burden and no high-risk mutations. Despite this lower molecular complexity, patients presenting with SVT showed a higher risk of death (HR 3.0, 95% CI 1.5-6.0, p = 0.003) and lower event-free survival (HR 3.0, 95% CI 1.9-4.8, p < 0.001) than age- and sex-matched PV/ET controls. In patients presenting with SVT, molecular high-risk was associated with increased risk of venous re-thrombosis (HR 5.8, 95% CI 1.4-24.0, p = 0.01). Patients developing SVT during follow-up were more frequently allocated in molecular high-risk than those with SVT at diagnosis (52% versus 13%, p < 0.05). In the whole cohort of patients, molecular classification identified PV/ET patients at higher risk of disease progression whereas DNMT3A/TET2/ASXL1 mutations were associated with higher risk of arterial thrombosis. In conclusion, clinical and molecular characteristics are different in PV/ET patients with SVT, depending on whether it occurs at diagnosis or at follow-up. Molecular characterization by NGS is useful for assessing the risk of thrombosis and disease progression in young patients with PV/ET.
(© 2023. The Author(s).)
Databáze: MEDLINE
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