Myeloid Neoplasms With Erythroid Predominance and Excess Blasts in Young Adults Exhibit Distinct Genetic Profiles
The evolution of acute myeloid leukemia (AML) classifications has progressively shifted the diagnostic focus toward genetic criteria. Nevertheless, morphology remains a key element in clinical practice, often serving as the initial trigger for additional molecular investigations. The diagnosis of acute erythroleukemia (AEML), initially defined by the FAB group, is no longer recognized as a distinct entity in the latest WHO and ICC classifications. Some studies have indicated that AEML shares similarities with myelodysplastic neoplasms, including a high frequency of TP53 mutations and adverse karyotypes. Here, we conducted a retrospective analysis in adults with AEML defined using historical morphologic criteria (≥ 50% erythroid precursors and ≥ 20% blasts among non-erythroid cells). In contrast to older patients, young adults (18-60 years) exhibit unique genetic profiles including a high prevalence of normal karyotypes (65%), NPM1 (35%) and UBTF (23%) mutations. AEML morphology in NPM1-mutated cases did not impact clinical outcomes but was associated with specific molecular features, including an enrichment of WT1 and cohesin gene mutations. In this age group, our findings support that morphologically defined AEML often corresponds to AML according to current genetic criteria, consistent with recent classification systems that prioritize molecular features over morphology.
Authors
- Hervé Dombret (ORCID: https://orcid.org/0000-0002-5454-6768)
- Kevin‐James Wattebled
- Raphaël Itzykson (ORCID: https://orcid.org/0000-0003-2139-6262)
- Valentin Lestringant (ORCID: https://orcid.org/0000-0001-9075-2502)
- Maël Heiblig (ORCID: https://orcid.org/0000-0003-1682-8657)
- Sabine Tricot
- Guillaume Couillez (ORCID: https://orcid.org/0000-0001-8302-8524)
- Claude Preudhomme (ORCID: https://orcid.org/0000-0002-1267-9546)
- Benjamin Podvin (ORCID: https://orcid.org/0000-0002-0616-8694)
- Loïc Garçon (ORCID: https://orcid.org/0000-0002-1125-9355)
- Laurène Fenwarth (ORCID: https://orcid.org/0000-0003-2808-4843)
- Benjamin Carpentier (ORCID: https://orcid.org/0000-0001-6808-9476)
- Delphine Lebon (ORCID: https://orcid.org/0000-0002-4073-1559)
- Catherine Roche‐Lestienne (ORCID: https://orcid.org/0000-0002-7998-3817)
- Loïc Vasseur (ORCID: https://orcid.org/0000-0001-9065-0477)
- Élise Fournier (ORCID: https://orcid.org/0000-0002-4485-4425)
- Karine Celli‐Lebras (ORCID: https://orcid.org/0000-0002-0004-8659)
- Carine Hauspie
- Thomas Boyer (ORCID: https://orcid.org/0000-0001-8133-5491)
- Céline Berthon (ORCID: https://orcid.org/0000-0002-3474-2577)
- Nicolas Duployez (ORCID: https://orcid.org/0000-0002-3927-1022)
- Alexis Caulier (ORCID: https://orcid.org/0009-0003-1505-7085)
- Jean‐Pierre Marolleau
- Claire Bories
Institutions
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Université de Lille (FR)
- Centre Hospitalier Universitaire de Lille (FR)
- Centre Hospitalier Universitaire Amiens-Picardie (FR)
- Hospices Civils de Lyon (FR)
- Hôpital Jeanne de Flandre (FR)
- Centre Hospitalier de Lens (FR)
- Hôpital Saint-Louis (FR)
- Hôpital Claude Huriez (FR)
- Centre Hospitalier de Valenciennes (FR)
- CANTHER - Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers (FR)
Publication Details
- Journal
- European Journal Of Haematology
- Published
- 2025-05-15
- DOI
- https://doi.org/10.1111/ejh.14435
- Primary Topic
- Acute Myeloid Leukemia Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Centre hospitalier régional universitaire de Lille