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母细胞性浆细胞样树突状细胞肿瘤4例临床病理分析

Blastic plasmacytoid dendritic cell neoplasm:a clinicopathologic study of four cases
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摘要 目的探讨母细胞性浆细胞样树突状细胞肿瘤(BPDCN)的临床病理特征、免疫表型、鉴别诊断、治疗及预后。方法回顾性分析明确诊断的4例BPDCN患者的临床特征、影像学、病理组织学、免疫表型及基因测序结果,复习国内外相关文献。结果4例BPDCN中,男性3例,女性1例;发病年龄17~59岁,中位年龄52岁;4例均以皮肤侵犯为首发症状,2例伴淋巴结转移,3例伴骨髓累及,1例伴中枢及周围神经系统侵犯。免疫组化:肿瘤细胞均表达CD4、CD56、CD43、BCL-2,3例CD123阳性,Ki-67增殖指数20%~90%。EBER原位杂交检测均为阴性。其中1例行基因检测:染色体未见明显异常,髓系74种基因突变分析ASXL124.8%、TET220.6%。T细胞受体基因重排克隆性分析均为阴性。结论BPDCN是一种临床少见的高度侵袭性血液系统恶性肿瘤,病程进展快,预后极差,CD4、CD56、CD123及BCL-2阳性表达是其显著的免疫表型,不表达髓系细胞或B、T淋巴细胞免疫标记。诊断时除了病理形态学,还需结合临床表现、免疫表型、实验室检查等综合分析,必要时借助分子遗传学检测辅助诊断,避免误诊和漏诊。 Objective To explore the clinicopathological features,immunophenotyping,differential diagnosis,treatment and prognosis of blastic plasmacytoid dendritic cell neoplasm(BPDCN).Methods The clinical manifestations,Imaging,histopathology,immunophenotypic features and gene sequencing results of 4 patients with BPDCN were analyzed retrospectively.The related literature was reviewed.Results Among the 4 patients,3 were male and 1 was female.The age of onset ranged from 17 to 59 years,with a median age of 52 years.4 cases had skin invasion as the first symptom,2 cases had lymph node metastasis,3 cases had bone marrow involvement,and 1 case had central and peripheral nervous system invasion.Tumor cell specific immune markers CD4,CD56,CD43 and BCL-2 were all positive,and CD123 in 3 patients.Ki-67 index was 20%-90%.EBER in situ hybridization was negative.In one case,there was no obvious chromosome abnormality,and the mutation analysis of 74 genes in the medullary system was as follows:ASXL124.8%,TET220.6%.The clonal analysis of T cell receptor gene rearrangement was all negative.Conclusion BPDCN is a rare and highly aggressive hematopoietic neoplasm with rapid progress and the high mortality.The positive expression of CD4,CD56,CD43 and BCL-2 is a significant immunephenotype and does not express myeloid cells or B,T lymphocyte immune markers.In addition to pathological morphology,comprehensive analysis such as clinical manifestations,immunophenotypes,and laboratory tests should also be combined during diagnosis.If necessary,molecular genetic testing should be used to assist in diagnosis to avoid misdiagnosis and missed diagnosis.
作者 李君娜 马佳佳 于靖雯 庞雪莲 薛晶 崔文丽 LI Jun-na;MA Jia-jia;YU Jing-wen;PANG Xue-lian;XUE Jing;CUI Wen-li(Department of Pathology,the First Affiliated Hospital of Xinjiang Medical University,Urumqi 830000,China)
出处 《诊断病理学杂志》 2024年第3期199-202,207,共5页 Chinese Journal of Diagnostic Pathology
基金 国家自然科学基金地区科学基金项目(82060038,82360046) 新疆维吾尔自治区自然科学基金面上项目(2022D01C243) 希思科-恒瑞肿瘤研究基金项目面上课题(YHR2020MS-0153)。
关键词 母细胞性浆细胞样树突细胞肿瘤 临床病理特征 免疫表型 诊断 Blastic plasmaeytoid dendritic cell neoplasm Clinicopathological features Immunophenotype Diagnosis
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