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<p>Triple-negative essential thrombocythemia (TN-ET) represents a diagnostic and therapeutic challenge. The aim of the present study was to identify prognostic factors useful for tailoring treatment. 241 TN-ET patients with myeloid panel sequencing and confirmatory bone marrow biopsy were selected. Pathogenic/likely pathogenic variants were identified in 19.5% of patients. Mutation carriers were older (median age 66 years vs. 53, <i>p</i> &lt; 0.001) and had a higher frequency of prior thrombosis (19.6% vs. 6.5%, <i>p</i> = 0.013). Presence of pathogenic/likely pathogenic variants was associated with leukemic progression (HR 12.608; 95% CI: 2.616–60.775, <i>p</i> = 0.002) and lower overall survival (HR 3.008; 95% CI: 1.43–6.327, <i>p</i> = 0.004). <i>ASXL1</i> (<i>p</i> = 0.004), <i>CBL</i> (<i>p</i> &lt; 0.001), <i>EZH2</i> (<i>p</i> &lt; 0.001), and <i>ZRSR2</i> (<i>p</i> &lt; 0.001) mutations were associated with inferior leukemia-free survival. Age over 60 years, previous thrombosis, and cardiovascular risk factors were associated with higher thrombotic risk. Revised IPSET-thrombosis was useful for risk stratification (10-year probability of overall thrombosis: 30%, 15%, and 6% for high-, intermediate-, and very-low risk patients, respectively, <i>p</i> &lt; 0.001). ARTS score refined arterial thrombosis stratification (10 years probability: 25% and 6% for high- and low-risk, respectively, <i>p</i> &lt; 0.001). Progression to myelofibrosis was a rare event in this cohort (2.5%). These results highlight the biological and prognostic relevance of molecular profile in TN-ET.</p>

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Mutational profile and cardiovascular risk factors impact prognosis in triple-negative essential thrombocythemia

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月13日

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  • Gonzalo Carreño-Tarragona,
  • Rodrigo Gil-Manso,
  • Juan Carlos Hernández-Boluda,
  • José Carlos Martínez-Ávila,
  • Beatriz Bellosillo,
  • Raúl Pérez-López,
  • Adrián Segura,
  • Francisca Ferrer-Marín,
  • Eduardo Arellano-Rodrigo,
  • Anna Angona,
  • Valentín García-Gutiérrez,
  • María Soledad Noya,
  • Ángela Blanco,
  • Lurdes Zamora,
  • Miguel Navarro,
  • Alicia Senín,
  • Elena Magro,
  • Irene Pastor-Galán,
  • María Isabel Mata-Vázquez,
  • María Luz Morales,
  • Beatriz Cuevas,
  • Patricia Vélez,
  • Elvira Mora,
  • Cristina Martínez-Bilbao,
  • Rafael Colmenares,
  • Juan Manuel Alonso,
  • Manuel Pérez-Encinas,
  • Gonzalo Caballero-Navarro,
  • Miguel Ángel Cortés,
  • Marta Santaliestra,
  • José María Raya,
  • Alberto Blanco-Sánchez,
  • Jesús María Hernández-Rivas,
  • Joaquín Martínez-López,
  • Rosa Ayala,
  • Alberto Álvarez-Larrán

摘要

Triple-negative essential thrombocythemia (TN-ET) represents a diagnostic and therapeutic challenge. The aim of the present study was to identify prognostic factors useful for tailoring treatment. 241 TN-ET patients with myeloid panel sequencing and confirmatory bone marrow biopsy were selected. Pathogenic/likely pathogenic variants were identified in 19.5% of patients. Mutation carriers were older (median age 66 years vs. 53, p < 0.001) and had a higher frequency of prior thrombosis (19.6% vs. 6.5%, p = 0.013). Presence of pathogenic/likely pathogenic variants was associated with leukemic progression (HR 12.608; 95% CI: 2.616–60.775, p = 0.002) and lower overall survival (HR 3.008; 95% CI: 1.43–6.327, p = 0.004). ASXL1 (p = 0.004), CBL (p < 0.001), EZH2 (p < 0.001), and ZRSR2 (p < 0.001) mutations were associated with inferior leukemia-free survival. Age over 60 years, previous thrombosis, and cardiovascular risk factors were associated with higher thrombotic risk. Revised IPSET-thrombosis was useful for risk stratification (10-year probability of overall thrombosis: 30%, 15%, and 6% for high-, intermediate-, and very-low risk patients, respectively, p < 0.001). ARTS score refined arterial thrombosis stratification (10 years probability: 25% and 6% for high- and low-risk, respectively, p < 0.001). Progression to myelofibrosis was a rare event in this cohort (2.5%). These results highlight the biological and prognostic relevance of molecular profile in TN-ET.