原发性中枢神经系统T细胞淋巴瘤(PCNSTL)临床上罕见,因其临床症状、影像学没有特异性而病理形态不典型容易被延误诊断。文中报道1例45岁的男性患者,因视物重影3个月,左侧肢体麻木2个月,言语欠清1周入院。入院后影像学检查考虑淋巴瘤或淋巴细胞增殖性病变可能性较大,行脑活组织检查病理镜下未见典型肿瘤细胞,考虑“淋巴瘤治疗后改变,与炎性疾病相鉴别”。1个月后患者病情进展,复查影像学显示病灶范围较前扩大,强化程度较前明显,仍考虑为淋巴瘤或淋巴细胞增殖性病变可能。为明确诊断进行二次活组织检查,病理镜下仍未见到典型肿瘤样淋巴细胞。最后进行基因重排,结果显示T细胞受体(TCR)基因重排β和γ链均有阳性突变。结合细胞形态、免疫表型及TCR基因重排结果,患者最终诊断为PCNSTL。文中就PCNSTL的临床症状、影像学特点、实验室检查、病理学特征、诊断及鉴别诊断进行文献复习,以提高临床医生对此类少见疾病的认识。
Primary central nervous system T-cell lymphomas (PCNSTL) are rare, the clinical symptoms and radiographic imaging of which are unspecific, and the pathological morphology is antypical, leading to misdiagnosis and delays in treatment. A 45-year-old male patient with diplopia accompanied by numbness and dysarthria was reported in this paper, which was considered as "lymphoma or lymphoproliferative lesions" on magnetic resonance imaging (MRI) while no typical tumor cells in brain biopsy. The clinical symptoms worsened one month later and the reexamined MRI showed that the scope of the lesion was enlarged and the enhancement was more obvious than before, which was still considered as lymphoma or lymphoproliferative lesion. The second biopsy was performed and still no typical tumor lymphocytes were seen. Finally, gene rearrangement was carried out and showed the β and γ chains both present positive mutations in T cell receptor (TCR) gene rearrangement. Combined with cell morphology, immunophenotype and TCR gene rearrangement results, the patient was finally diagnosed as PCNSTL. This article reviewed the clinical symptoms, imaging features, laboratory examinations, pathological characteristics, diagnosis and differential diagnosis of PCNSTL, so as to improve the understanding of this rare disease.
李波,山常国,洪伟平,等. 原发性中枢神经系统T细胞淋巴瘤1例[J]. 中华神经科杂志,2022,55(12):1396-1401.
DOI:10.3760/cma.j.cn113694-20220320-00216版权归中华医学会所有。
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李波:查阅文献、论文撰写;山常国、洪伟平:收集资料;李海南:提供病理资料;林涛:取活检;汪文胜:提供影像资料;王展航:提供建议、修改论文;蔡林波:论文审核和修改
李波, 山常国, 洪伟平, 等. 原发性中枢神经系统T细胞淋巴瘤1例[J]. 中华神经科杂志, 2022, 55(12): 1396-1401. DOI: 10.3760/cma.j.cn113694-20220320-00216.

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