以双侧眼球突出和多发性颅神经麻痹为表现的RUNX1-RUNX1T1阳性急性髓系白血病。
RUNX1-RUNX1T1-positive acute myeloid leukaemia presenting as bilateral proptosis and multiple cranial nerve palsy.
作者信息
Totadri Sidharth, Bhatia Prateek, Sreedharanunni Sreejesh
机构信息
Department of Pediatric Hematology Oncology, Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab, India.
Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab, India.
出版信息
BMJ Case Rep. 2017 Oct 9;2017:bcr-2017-221402. doi: 10.1136/bcr-2017-221402.
We describe a unique presentation of acute myeloid leukaemia (AML) with myeloid sarcoma (MS), manifested as proptosis with multiple cranial nerve palsies in a 9-year-old boy. MRI of the brain revealed multiple enhancing lesions and bilateral mastoiditis, in addition to sagittal sinus thrombosis. Peripheral blood smear demonstrated blasts showing Auer rods. Bone marrow examination confirmed the diagnosis of AML. PCR was positive for RUNX1-RUNX1T1. Neurological deficits improved with induction chemotherapy for AML. Extramedullary MS can present simultaneously with or antedate AML. Common genetic aberrations include t(8;21) and inv(16). Therapy is akin to AML. An effect of MS on survival outcomes is variable.
我们描述了一例急性髓系白血病（AML）合并髓系肉瘤（MS）的独特表现，在一名9岁男孩中表现为眼球突出伴多发颅神经麻痹。脑部MRI显示除矢状窦血栓形成外，还有多个强化病灶和双侧乳突炎。外周血涂片显示有Auer小体的原始细胞。骨髓检查确诊为AML。RUNX1-RUNX1T1的PCR检测呈阳性。AML诱导化疗后神经功能缺损有所改善。髓外MS可与AML同时出现或先于AML出现。常见的基因畸变包括t(8;21)和inv(16)。治疗与AML相似。MS对生存结果的影响各不相同。
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