3例易误诊为MDS的ANKL骨髓活体组织检查临床病理分析

Clinicopathological features of bone marrow biopsy in 3 cases of ANKL which easily misdiagnosed as MDS

侵袭性自然杀伤细胞白血病(aggressive natural killer-cell leukemia,ANKL)是一种罕见的淋巴造血系统疾病。本文回顾性分析郑州人民医院2020年6月至2022年7月收治的3例初诊误诊为骨髓增生异常综合征(myelodysplastic syndrome,MDS)的ANKL患者的临床资料,总结其骨髓活体组织检查(以下简称“活检”)临床病理特征。3例ANKL侵犯骨髓临床表现以外周血三系(白细胞、红细胞、血小板)下降、发热和脾大为常见,骨髓涂片诊断阳性率为100.00%(3/3),流式细胞术诊断阳性率为66.67%(2/3),骨髓活检诊断阳性率为100.00%(3/3),染色体核型异常2例(66.67%)。骨髓活检中细胞胞体小或大,异常细胞间质呈散在或小灶分布。免疫组织化学表达CD3、CD56、T细胞限制性细胞内抗原-1(T-cell intracellular antigen-1,TIA-1),不表达CD5,原位杂交EB病毒编码的小RNA(Epstein-Barr virus-encoded RNA,EBER)阳性,T细胞受体(T-cell receptor,TCR)重排阴性。3例患者均呈侵袭性进展,其中2例死亡。骨髓病理学、流式细胞术、免疫组织化学及基因重排联合检测对ANKL诊断具有重要价值。

Aggressive natural killer-cell leukemia(ANKL)is a rare lymphohematopoietic system disease.This study retrospectively analyzed the clinical data of 3 patients with ANKL initially misdiagnosed as myelodysplastic syndrome(MDS)at Zhengzhou People’s Hospital from June 2020 to July 2022 and summarized their clinicopathological characteristics by bone marrow biopsy.Clinical manifestations of ANKL invading the bone marrow commonly include peripheral blood cytopenia(white blood cells,red blood cells,platelets),fever,and splenomegaly.The positive diagnosis rates for bone marrow smears,flow cytometry,and bone marrow biopsy were 100.00%(3/3),66.67%(2/3),and 100.00%(3/3),respectively.Chromosomal karyotype abnormalities were observed in 2 cases(66.67%).In bone marrow biopsy,cells exhibited small or large cytoplasm,and abnormal cells were scattered or distributed in stroma foci.Immunohistochemistry showed positive expression of CD3,CD56,and T-cell intracellular antigen-1(TIA-1),negative expression of CD5,and positive Epstein-Barr virus-encoded RNA(EBER)in situ hybridization.T-cell receptor(TCR)rearrangement was negative.All 3 cases showed an aggressive progression,and 2 cases resulted in death.A comprehensive approach,combining bone marrow pathology,flow cytometry,immunohistochemistry,and gene rearrangement analysis,plays a crucial in the accurate diagnosis of ANKL.