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<p>We report a large cohort of 95 adult patients with acute myeloid leukemia (AML) harboring <i>NUP98</i> rearrangements (<i>NUP98</i>r). Patient characteristics included a young age (median 50 years [IQR 38-64]), 20% of therapy-related AML, a high WBC count (median 52×10<sup>9</sup>/L), normal karyotype in 32%, <i>FLT3</i>-ITD in 48% and <i>WT1</i> mutations in 34%. <i>NUP98::NSD1</i> fusion was the most common (54%), and these patients were significantly younger (41 y vs. 61 y), had more de novo AML (94% vs. 64%), higher rates of normal karyotypes (56% vs. 4.5%), <i>FLT3-ITD</i> (76% vs. 18%) and <i>WT1</i> mutations (50% vs. 16%) than other <i>NUP98</i>r AML. The median overall survival (OS) for the entire cohort was 15.2 months (95% CI, 11.9–20.8) and event-free survival was 5.8 months (2-7.5). Among patients treated intensively (<i>n</i> = 73), age (HR = 2.7), FLT3 inhibitor therapy (HR = 0.45) and hematopoietic stem cell transplant (HR = 0.5) influenced OS in univariate analysis. Compared with <i>NUP98</i> wild-type (WT) AML, <i>NUP98</i>r patients had a prognosis more similar to that of <i>NUP98</i> WT ELN adverse patients whether initially classified as intermediate (20.3 months [11.7–30.2]) or adverse (15.7 months [13.5–42.9]). However, treatment with FLT3 inhibitors improved prognosis, with median OS not reached and 5-year OS of 53.3%, approaching that of intermediate-risk patients.</p>

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Comprehensive mutational profiling and clinical outcome of adult acute myeloid leukemia patients with NUP98 rearrangement

  • 期刊论文

  • 发表日期：

    2026年5月12日

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  • Benoit Ducourneau,
  • Arnaud Pages,
  • Stéphanie Struski,
  • Matthieu Decamp,
  • Emmanuel Raffoux,
  • Céline Berthon,
  • Laurène Fenwarth,
  • Vincent Marmouset,
  • Cécile Pautas,
  • Thomas Cluzeau,
  • Delphine Lebon,
  • Madalina Uzunov,
  • Patricio Pereyra,
  • Maël Heiblig,
  • Jean-Valère Malfuson,
  • Laure Farnault,
  • Pierre-Yves Dumas,
  • Julia Hieulle,
  • Sarah Bertoli,
  • Sylvain Chantepie,
  • Nathalie Auger,
  • Audrey Bidet,
  • Marie-Joelle Mozziconacci,
  • Augustin Boudry,
  • Isabelle Luquet,
  • Laureen Chat,
  • Romain Loyaux,
  • Lina El-Mur,
  • Emmanuelle Clappier,
  • Claude Gardin,
  • Mathilde Hunault,
  • Stéphane De Botton,
  • Arnaud Pigneux,
  • Dominique Penther,
  • Eric Delabesse,
  • Raphael Itzykson,
  • Claude Preudhomme,
  • Hervé Dombret,
  • Christian Recher,
  • Nicolas Duployez,
  • Jean-Baptiste Micol

摘要

We report a large cohort of 95 adult patients with acute myeloid leukemia (AML) harboring NUP98 rearrangements (NUP98r). Patient characteristics included a young age (median 50 years [IQR 38-64]), 20% of therapy-related AML, a high WBC count (median 52×109/L), normal karyotype in 32%, FLT3-ITD in 48% and WT1 mutations in 34%. NUP98::NSD1 fusion was the most common (54%), and these patients were significantly younger (41 y vs. 61 y), had more de novo AML (94% vs. 64%), higher rates of normal karyotypes (56% vs. 4.5%), FLT3-ITD (76% vs. 18%) and WT1 mutations (50% vs. 16%) than other NUP98r AML. The median overall survival (OS) for the entire cohort was 15.2 months (95% CI, 11.9–20.8) and event-free survival was 5.8 months (2-7.5). Among patients treated intensively (n = 73), age (HR = 2.7), FLT3 inhibitor therapy (HR = 0.45) and hematopoietic stem cell transplant (HR = 0.5) influenced OS in univariate analysis. Compared with NUP98 wild-type (WT) AML, NUP98r patients had a prognosis more similar to that of NUP98 WT ELN adverse patients whether initially classified as intermediate (20.3 months [11.7–30.2]) or adverse (15.7 months [13.5–42.9]). However, treatment with FLT3 inhibitors improved prognosis, with median OS not reached and 5-year OS of 53.3%, approaching that of intermediate-risk patients.