伴有NPM1突变的慢性粒单核细胞白血病还是急性髓系白血病？

Chronic myelomonocytic leukemia with NPM1 mutation or acute myeloid leukemia?

作者信息

Castaño-Díez Sandra, Álamo José Ramón, López-Guerra Mònica, Gómez-Hernando Marta, Zugasti Inés, Jiménez-Vicente Carlos, Guijarro Francesca, López-Oreja Irene, Esteban Daniel, Charry Paola, Torrecillas Víctor, Mont-de Torres Lucia, Cortés-Bullich Albert, Bataller Álex, Guardia Ares, Munárriz Daniel, Carcelero Esther, Riu Gisela, Triguero Ana, Tovar Natalia, Vela Dolors, Beà Silvia, Costa Dolors, Colomer Dolors, Rozman Maria, Esteve Jordi, Díaz-Beyá Marina

机构信息

Hematology Department, Hospital Clínic Barcelona, Barcelona, Spain.

Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

出版信息

Oncologist. 2025 Feb 6;30(2). doi: 10.1093/oncolo/oyae246.

DOI:10.1093/oncolo/oyae246

PMID:39349391

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11884738/

Abstract

The 2022 WHO revision and the ICC classification have recently modified the diagnostic criteria for chronic myelomonocytic leukemia (CMML) and acute myeloid leukemia. However, there is no consensus on whether CMML with NPM1 mutation (NPM1mut) should be diagnosed as AML. Nowadays, it is a subject of discussion because of its diagnostic and therapeutic implications. Therefore, we describe a case of a patient diagnosed with CMML NPM1mut and briefly review the literature to highlight the uncertainty about how to classify a CMML with NPM1 mutation. We emphasize the importance of a comprehensive molecular study, which is crucial to optimize the individualized treatment of patients, enabling them to access targeted therapies.

摘要

2022年世界卫生组织（WHO）的修订版以及国际癌症研究机构（ICC）分类法最近对慢性粒单核细胞白血病（CMML）和急性髓系白血病的诊断标准进行了修改。然而，对于伴有核仁磷酸蛋白1（NPM1）突变（NPM1mut）的CMML是否应诊断为急性髓系白血病（AML），目前尚无共识。由于其对诊断和治疗的影响，如今这已成为一个讨论的话题。因此，我们描述了一例被诊断为CMML NPM1mut的患者病例，并简要回顾文献，以突出关于如何对伴有NPM1突变的CMML进行分类的不确定性。我们强调全面分子研究的重要性，这对于优化患者的个体化治疗、使他们能够获得靶向治疗至关重要。