“Cup-like” blasts in acute myeloid leukemia with FLT3 and NPM1 mutations
Aditi Vidholia and Madhu P. Menon
A 61-year-old man presented with left-side neck pain and swelling, dizziness, night sweats, and significant weight loss. 某患者男，61岁，左颈部疼痛、肿胀，头晕，盗汗，体重明显减轻。His laboratory investigations showed pancytopenia with hemoglobin of 8.6 g/dL, leukocyte count of 600 per μL, and platelet count of 15000 per μL. 实验室检查示全血细胞减少，血红蛋白86g/L，白细胞0.6×109/L，血小板15×109/L。Bone marrow aspiration and biopsy revealed 90% blasts (panel A) with a peculiar “cup-shaped” nuclear morphology (panel B). 骨髓穿刺检查示原始细胞占90%（图A），且细胞核呈特殊的“杯状”形态（图B）。Molecular diagnostics revealed the presence of cooccurring mutations of the nucleophosmin (NPM1) and Fms-like tyrosine kinase (FLT3) genes. 分子诊断示同时存在核仁磷酸蛋白（NPM1）和Fms样酪氨酸激酶（FLT3）基因突变。Cytogenetic studies did not show any abnormalities. 细胞遗传学检查未发现异常。The patient was started on induction chemotherapy with cytarabine and idarubicin and demonstrated good response. 对该患者应用阿糖胞苷和去甲氧基柔红霉素进行诱导化疗，效果良好。
Acute myeloid leukemia is a complex diagnosis with several qualifiers including morphology, immunophenotype, and genetics. 急性髓细胞白血病的诊断是一个复杂的过程，需要多种方法联合，包括形态学、免疫表型和遗传学。Cases with cup-shaped nuclear morphology are strongly associated with cooccurring mutations of NPM1 (internal tandem repeats within juxtamembrane domain or activating point mutations in the tyrosine kinase domain) and FLT3 (typically insertions or deletions of 4-9 bp). 病例中的杯状核形态与NPM1（近膜结构域的内部串联重复或酪氨酸激酶结构域的激活点突变）和FLT3（典型的4-9碱基对插入或缺失）同时突变具有紧密关联。This morphology can be associated with solitary NPM1 but generally not FLT3 mutation on its own. 这种形态学也可与单独的NPM1突变相关，但通常与单独的FLT3突变无关。In addition, this myeloid leukemia generally demonstrates a normal karyotype, high D-dimer levels, and negative CD34 and HLA-DR expression. 此外，这类髓细胞白血病通常表现为正常核型，高D-二聚体水平，不表达CD34和HLA-DR。Because of these unique characteristics, recognition of this morphology and subsequent FLT3 and NPM1 mutation testing are recommended. 鉴于上述特征，提醒大家注意识别这种形态，并推荐后续进行FLT3和NPM1突变的检测。
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