Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology. Garrote, M., López-Guerra, M., García-Pagán, J. C., Arellano-Rodrigo, E., Ferrer-Marín, F., Hernández-Boluda, J. C., Bellosillo, B., Nomdedeu, M., Hernández-Gea, V., Triguero, A., Guijarro, F., Álamo, J., Baiges, A., Turon, F., Colomer, D., Cervantes, F., & Alvarez-Larrán, A. Annals of Hematology, January, 2024.
Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology [link]Paper  doi  abstract   bibtex   
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 \textless 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 \textless 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 \textless 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.
@article{garrote_genomic_2024,
	title = {Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology},
	issn = {1432-0584},
	url = {https://doi.org/10.1007/s00277-023-05610-x},
	doi = {10.1007/s00277-023-05610-x},
	abstract = {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 {\textless} 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 {\textless} 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 {\textless} 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.},
	language = {en},
	urldate = {2024-01-29},
	journal = {Annals of Hematology},
	author = {Garrote, Marta and López-Guerra, Mónica and García-Pagán, Juan Carlos and Arellano-Rodrigo, Eduardo and Ferrer-Marín, Francisca and Hernández-Boluda, Juan Carlos and Bellosillo, Beatriz and Nomdedeu, Meritxell and Hernández-Gea, Virginia and Triguero, Ana and Guijarro, Francesca and Álamo, José and Baiges, Anna and Turon, Fanny and Colomer, Dolors and Cervantes, Francisco and Alvarez-Larrán, Alberto},
	month = jan,
	year = {2024},
	keywords = {Custom Panel, DDM, Splanchnic vein thrombosis (SVT)},
}
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