采用修订版第四版世界卫生组织标准对急性髓系白血病进行分类：一项回顾性单机构研究，评估了具有 NPM1 和双等位 CEBPA 基因突变的急性髓系白血病新实体。
Classification of acute myeloid leukemia by the revised fourth edition World Health Organization criteria: a retrospective single-institution study with appraisal of the new entities of acute myeloid leukemia with gene mutations in NPM1 and biallelic CEBPA.
机构信息
Department of Pathology and Laboratory Medicine, Pennsylvania State Milton S. Hershey Medical Center, Pennsylvania State College of Medicine, Hershey, PA 17033.
出版信息
Hum Pathol. 2019 Aug;90:80-96. doi: 10.1016/j.humpath.2019.04.020. Epub 2019 May 8.
The 2016/2017 World Health Organization (WHO) classification for acute myeloid leukemia (AML) includes new entities with gene mutations in NPM1 (AML-NPM1) and biallelic CEBPA (AML-biCEBPA). To retrospectively identify and study these new molecularly defined WHOentities, we reviewed clinicopathologic data and pretherapy archived pathologic materials at diagnosis for 143 consecutive AML cases (55.2% male, median age 62 [range 18-89] years) and classified all cases by the 2008 WHO (WHO) and revised WHO criteria. By WHO, cases included 21 (15%) with recurrent genetic abnormalities (52.3% male, median age 54 [range 18-82] years), 54 (38%) with myelodysplasia-related changes (57.4% male, median age 65 [range 32-84] years), 3 (2%) therapy related (100% male, median age 66 [range 32-84] years), and 65 (45%) not otherwise specified (52.3% male, median age 61 [range 19-89] years). Twenty-two (15.4%) cases (21 AML, not otherwise specified; 1 AML with myelodysplasia-related changes by WHO) reclassified by WHO as AML-NPM1 showed female predominance (54.5%), and median (range) values were as follows: age 60.5 (23-84) years, hemoglobin 8.6 (5.6-12.9) g/dL, total leucocytes 30.1 (2.58-241.84) × 10/L, monocytes 1.65 (0-49.34) × 10/L, neutrophils 1.96 (0-29.79) × 10/L, platelets 55 (11-320) × 10/L, blasts (peripheral blood 41% [2%-98%], bone marrow 66% [17%-97%]), with myeloblasts (17 [77%]/21), cytogenetics (20 [91%]/22), FLT3-ITD (9 [41%]/22), FLT3-ITDFLT3-TKD (5 [23%]/22), FLT3-ITDFLT3-TKD (8 [36%]/22), and extramedullary involvement (6 [27%]/22), including 1 novel cutaneous presentation. Notably, presenting features among AML-NPM1 included those of anemia (22 [100%]) and thrombocytopenia (20 [91%]/22). This is also the first report of 4 [18%]/22 AML-NPM1 (including 3 [75%]/4 nonsmokers) with a family history of leukemia and one 74-year-old with familial AML-biCEBPA. This study validates the application of the WHO classification criteria by retrospectively identifying AML-NPM1 and AML-biCEBPA cases using single-gene molecular analyses. Additional studies are needed to characterize the complete spectrum of WHO-defined AML-biCEBPA and for familial AML including AML-NPM1.
2016/2017 年世界卫生组织（WHO）急性髓系白血病（AML）分类包括 NPM1（AML-NPM1）和双等位基因 CEBPA（AML-biCEBPA）基因突变的新实体。为了回顾性地识别和研究这些新的分子定义的 WHO 实体，我们回顾性地分析了 143 例连续 AML 病例的临床病理数据和诊断前存档的病理材料（55.2%为男性，中位年龄 62[范围 18-89]岁），并根据 2008 年 WHO（WHO）和修订的 WHO 标准对所有病例进行分类。根据 WHO，病例包括 21 例（15%）有复发性遗传异常（52.3%为男性，中位年龄 54[范围 18-82]岁），54 例（38%）有骨髓增生异常相关改变（57.4%为男性，中位年龄 65[范围 32-84]岁），3 例（2%）与治疗相关（100%为男性，中位年龄 66[范围 32-84]岁），65 例（45%）未另作说明（52.3%为男性，中位年龄 61[范围 19-89]岁）。22 例（21 例 AML，未另作说明；1 例 AML 伴有 WHO 定义的骨髓增生异常相关改变）根据 WHO 重新分类为 AML-NPM1，表现为女性为主（54.5%），中位数（范围）值如下：年龄 60.5（23-84）岁，血红蛋白 8.6（5.6-12.9）g/dL，总白细胞 30.1（2.58-241.84）×10/L，单核细胞 1.65（0-49.34）×10/L，中性粒细胞 1.96（0-29.79）×10/L，血小板 55（11-320）×10/L，blasts（外周血 41%[2%-98%]，骨髓 66%[17%-97%]），有髓样母细胞（17[77%]/21），细胞遗传学（20[91%]/22），FLT3-ITD（9[41%]/22），FLT3-ITDFLT3-TKD（5[23%]/22），FLT3-ITDFLT3-TKD（8[36%]/22），以及髓外浸润（6[27%]/22），包括 1 例新的皮肤表现。值得注意的是，AML-NPM1 的表现特征包括贫血（22[100%]）和血小板减少症（20[91%]/22）。这也是首次报道 4[18%]/22 AML-NPM1（包括 3[75%]/4 名非吸烟者）有白血病家族史和一名 74 岁有家族性 AML-biCEBPA。这项研究通过使用单基因分子分析回顾性地识别 AML-NPM1 和 AML-biCEBPA 病例，验证了 WHO 分类标准的应用。需要进一步的研究来描述 WHO 定义的 AML-biCEBPA 的完整谱，并研究包括 AML-NPM1 在内的家族性 AML。
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