Koulmane Laxminarayana Sindhura Lakshmi, Kohli Saksham, Agrohi Jhalak, Belurkar Sushma
Department of Pathology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Udupi, IND.
Department of Pathology, Kasturba Medical College, Manipal, Manipal academy of Higher Education, Udupi, IND.
Cureus. 2023 Mar 9;15(3):e35965. doi: 10.7759/cureus.35965. eCollection 2023 Mar.
Acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia (AML) characterized by abnormal megakaryoblasts expressing platelet-specific surface antigens. 4%-16% of childhood AMLs are AMKL. Childhood AMKL is usually associated with Down syndrome (DS). It is 500 times more common in patients with DS when compared to the general population. In contrast, non-DS-AMKL is much rarer. We describe a case of de novo non-DS-AMKL in a teenage girl child who presented with a history of excessive tiredness, fever, abdominal pain for three months, and vomiting for four days. She had lost appetite, and weight. On examination she was pale; there was no clubbing, hepatosplenomegaly or lymphadenopathy. There were no dysmorphic features or neurocutaneous markers. Laboratory tests showed bicytopenia (Hb: 6.5g/dL, total WBC count: 700/µL, platelet count: 216,000/ µL, Reticulocyte %: 0.42) and 14% blasts on the peripheral blood smear. Platelet clumps and anisocytosis were also noted. Bone marrow aspirate showed a few hypocellular particles with dilute cell trails but showed 42% blasts. Mature megakaryocytes showed marked dyspoiesis. Flow cytometry on bone marrow aspirate showed myeloblasts and megakaryoblasts. Karyotyping showed 46 XX. Hence, a final diagnosis of non-DS-AMKL was established. She was treated symptomatically. However, she was discharged on request. Interestingly, the expression of erythroid markers such as CD36 and lymphoid markers like CD7 is usually seen in DS-AMKL and not in non-DS-AMKL. AMKL is treated with AML-directed chemotherapies. Although complete remission rates are similar to other AML subtypes, overall survival is only about 18-40 weeks.
急性巨核细胞白血病（AMKL）是急性髓系白血病（AML）的一种罕见亚型，其特征为异常的巨核母细胞表达血小板特异性表面抗原。儿童AML中有4%-16%为AMKL。儿童AMKL通常与唐氏综合征（DS）相关。与普通人群相比，DS患者患AMKL的几率要高500倍。相比之下，非DS-AMKL则更为罕见。我们描述了一例青少年女性新发非DS-AMKL病例，该患者有三个月的过度疲劳、发热、腹痛病史以及四天的呕吐史。她出现了食欲不振和体重减轻的情况。检查发现她面色苍白；无杵状指、肝脾肿大或淋巴结病。没有畸形特征或神经皮肤标记物。实验室检查显示双血细胞减少（血红蛋白：6.5g/dL，白细胞总数：700/µL，血小板计数：216,000/µL，网织红细胞百分比：0.42），外周血涂片可见14%的原始细胞。还注意到血小板聚集和红细胞大小不均。骨髓穿刺显示有一些细胞减少的颗粒，细胞轨迹稀疏，但原始细胞占42%。成熟巨核细胞显示明显的发育异常。骨髓穿刺液的流式细胞术显示有原始粒细胞和巨核母细胞。核型分析显示为46 XX。因此，最终确诊为非DS-AMKL。对她进行了对症治疗。然而，应其要求她出院了。有趣的是，红细胞标记物如CD36和淋巴细胞标记物如CD7的表达通常见于DS-AMKL，而非DS-AMKL中则未见。AMKL采用针对AML的化疗进行治疗。尽管完全缓解率与其他AML亚型相似，但总生存期仅约18-40周。
