Keklik Muzaffer, Sivgin Serdar, Kalin Burhan Sami, Akyol Gulsah, Pala Cigdem, Solmaz Musa, Kaynar Leylagul, Eser Bulent, Cetin Mustafa, Unal Ali
Erciyes Stem Cell Transplantation Hospital, Department of Hematology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Transfus Apher Sci. 2013 Jun;48(3):293-5. doi: 10.1016/j.transci.2013.04.001. Epub 2013 Apr 16.
Ataxia-telangiectasia (AT) is a hereditary disorder characterized by progressive neurological dysfunction, oculocutaneous telangiectasia, immunodeficiency, cancer susceptibility, and radiation sensitivity. Pediatric patients may develop acute lymphoblastic leukemia (ALL). However development of ALL in an adult patient with AT is a rare occurrence. Here we report such a patient who presented with hyperleukocytosis and were treated with leukapheresis. A 25years old male patient, who were diagnosed with AT and mental retardation, was admitted to the emergency department due to fatigue, nausea and headache. On admission he had a moderate general condition and was fully cooperated. His white blood cell (WBC) count were 466×10(9)/l. Blastic cells were observed in peripheral blood smear. Flow cytometry (FC) of peripheral blood showed T-ALL. Two sessions of large volume leukapheresis was performed. Symptoms due to hyperleukocytosis markedly improved after leukapheresis. Patients with AT should be closely monitored due to risk of malignancy. Leukapheresis may improve the prognosis of high risk ALL patients presenting with hyperleukocytosis.
共济失调毛细血管扩张症（AT）是一种遗传性疾病，其特征为进行性神经功能障碍、眼皮肤毛细血管扩张、免疫缺陷、癌症易感性和辐射敏感性。儿科患者可能会患上急性淋巴细胞白血病（ALL）。然而，成年AT患者发生ALL的情况罕见。在此，我们报告一名出现白细胞增多症并接受白细胞单采术治疗的此类患者。一名25岁男性患者，被诊断患有AT和智力发育迟缓，因疲劳、恶心和头痛入住急诊科。入院时他一般状况中等，完全配合治疗。他的白细胞（WBC）计数为466×10⁹/L。外周血涂片观察到原始细胞。外周血流式细胞术（FC）显示为T-ALL。进行了两次大容量白细胞单采术。白细胞单采术后，白细胞增多症引起的症状明显改善。由于存在恶性肿瘤风险，AT患者应密切监测。白细胞单采术可能会改善出现白细胞增多症的高危ALL患者的预后。
