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<p>Acute myeloid leukemia (AML) is a heterogeneous malignancy with a poor prognosis. Genetic and molecular profiling help guide treatment decisions, including the use of allogeneic hematopoietic stem cell transplantation (allo-HSCT), to reduce relapse risk. This study evaluated the impact of individual and co-mutational genetic profiles in AML patients in first complete remission after receiving allo-HSCT using data from the PETHEMA registry. A retrospective analysis assessed overall survival and relapse-free survival (RFS). Cox regression identified significant variables used to develop a risk score based on hazard ratios, incorporating age, AML type, transplant timing, and genetic/molecular alterations. A total of 717 patients (median age 56.5 years) were included, most classified as adverse risk by ELN2022 criteria. Both ELN2017 and ELN2022 risk classifications were validated. Multivariate analysis showed that <i>DNMT3A</i>, <i>SF3B1</i>, <i>TP53</i>, and <i>WT1</i> mutations were linked to shorter RFS, whereas <i>FLT3</i>-ITD mutations correlated with prolonged RFS. These findings were integrated into a proposed prognostic score, which was validated. Therefore, this study highlights the prognostic importance of genetic mutations in AML patients undergoing allo-HSCT. These insights could inform pre-transplant strategies, including donor selection and conditioning regimens, as well as post-transplant maintenance therapy.</p>

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Impact of molecular profiling in patients with acute myeloid leukemia undergoing allogeneic transplantation in first remission: a study by the PETHEMA group

  • 期刊论文

  • 发表日期：

    2026年5月7日

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  • Rafael Colmenares,
  • Eva Barragán,
  • Rebeca Rodríguez-Veiga,
  • Laura Torres-Miñana,
  • Joaquín Sánchez-García,
  • Mar Tormo,
  • Teresa Bernal,
  • Pilar Martínez-Sánchez,
  • Eduardo Rodríguez-Arbolí,
  • Cristina Gil,
  • Elena Soria-Saldise,
  • Josefina Serrano,
  • Mercedes Colorado,
  • María García-Fortes,
  • Cristina Bilbao,
  • José Luis López-Lorenzo,
  • María José Larráyoz,
  • Esther Pérez-Santaolalla,
  • Esperanza Lavilla-Rubira,
  • Lorenzo Algarra,
  • María Carmen García-Garay,
  • Carmen Chillón,
  • Melissa Torres-Ochando,
  • Carmen Couto,
  • Raimundo García-Boyero,
  • Ágata Almela,
  • Víctor Noriega,
  • Marta Callejas,
  • Manuel Barrios,
  • Soledad Casado,
  • Amaia Balerdi,
  • Ana Cabello,
  • Jorge Labrador,
  • María Carmen Mateos,
  • María Luz Amigo,
  • Manuel Pérez-Encinas,
  • María José García-Pérez,
  • Lissette Costilla,
  • Juan Bergua,
  • Gonzalo Carreño-Tarragona,
  • Joaquín Martínez-López,
  • Rosa Ayala,
  • Pau Montesinos

摘要

Acute myeloid leukemia (AML) is a heterogeneous malignancy with a poor prognosis. Genetic and molecular profiling help guide treatment decisions, including the use of allogeneic hematopoietic stem cell transplantation (allo-HSCT), to reduce relapse risk. This study evaluated the impact of individual and co-mutational genetic profiles in AML patients in first complete remission after receiving allo-HSCT using data from the PETHEMA registry. A retrospective analysis assessed overall survival and relapse-free survival (RFS). Cox regression identified significant variables used to develop a risk score based on hazard ratios, incorporating age, AML type, transplant timing, and genetic/molecular alterations. A total of 717 patients (median age 56.5 years) were included, most classified as adverse risk by ELN2022 criteria. Both ELN2017 and ELN2022 risk classifications were validated. Multivariate analysis showed that DNMT3A, SF3B1, TP53, and WT1 mutations were linked to shorter RFS, whereas FLT3-ITD mutations correlated with prolonged RFS. These findings were integrated into a proposed prognostic score, which was validated. Therefore, this study highlights the prognostic importance of genetic mutations in AML patients undergoing allo-HSCT. These insights could inform pre-transplant strategies, including donor selection and conditioning regimens, as well as post-transplant maintenance therapy.