血管内大B细胞淋巴瘤(尸体解剖结果及文献复习)

目的探讨血管内大B细胞淋巴瘤的临床表现及病理特征。方法对1例70岁男性血管内大B细胞淋巴瘤尸体解剖病例进行临床表现及病理特征描述，并对肿瘤细胞免疫表型及抗原受体分子（TCR-γ、IgH）基因进行重排检测。结果临床表现为双下肢麻木、无力。实验室检查血清乳酸脱氢酶、α-羟丁酸脱氢酶水平明显升高；肌电图提示左侧股四头肌、双侧胫骨前肌呈神经源性损害；MRI扫描两侧脑室周围及两侧半卵圆孔中心呈片状长T1、长T2信号。患者于发病3个月内迅速出现多脏器功能衰竭而死亡。尸检结果显示，颈前及胸部皮下、心外膜下有数枚灰白色结节，两侧胸腔、心包腔和腹腔均有草绿色清亮液体（100-500ml）。显微镜观察全身多脏器组织小血管内有数量不等、中等偏大的异形性淋巴样细胞，肿瘤细胞均表达CD20、CD79a，部分肿瘤细胞对CD5、Bcl-2蛋白呈阳性表达，CD3、CD10、CD30、Bcl-6蛋白、髓过氧化物酶（MPO）、细胞角蛋白（CK）和EB病毒mRNA等均呈阴性表达，约80％的肿瘤细胞Ki-67抗原（Ki-67）呈阳性表达，并具有IgH基因重排，片段大小为90bp。结论血管内大B细胞淋巴瘤多见于中老年人，预后较差，患者多于发病2年内死亡。大多数血管内大B细胞淋巴瘤患者的肿瘤细胞呈B细胞免疫表型并有IgH基因重排。     

Brainstem tuberculoma in the immunocompetent: case report and literature review

Brainstem tuberculoma is an uncommon entity especially in the immunocompetent adult. The authors describe the case of a 32-year-old immunocompetent woman with no systemic signs or symptoms of tuberculosis, presenting with sudden-onset hemiparesis and diplopia. MRI of brain revealed an enhancing lesion in the midbrain and thalamus. Cerebrospinal fluid examination was normal. Chest imaging was consistent with miliary tuberculosis; however initial expectorated sputum was culture negative. Bronchosopy sputum culture was positive for Mycobacterium tuberculosis. Her PPD was negative. Patient became asymptomatic with treatment for tuberculosis and follow-up MRI showed complete resolution of the lesion a year later. We conclude that a high index of suspicion is essential to make an early diagnosis of intracranial tuberculoma, since often, traditional TB tests like PPD and sputum examinations can be negative.     

ALK‐positive anaplastic large cell lymphoma presenting as intradural spinal mass: First reported case and review of literature

Anaplastic large cell lymphoma (ALCL) is characterized by large anaplastic cells of T‐cell or null‐cell phenotype expressing CD30 (Ki‐1 antigen). In most cases this neoplasm expresses the anaplastic lymphoma kinase (ALK), a chimeric protein resulting from the t(2;5)(p23;q35) translocation. ALK‐positive anaplastic large cell lymphoma is most frequent in the first three decades of life and shows a male predominance, involving both nodal and extranodal sites, but rarely the CNS. We report a 21‐year‐old patient with a previous history of nodal ALK‐positive ALCL, lymphohistiocytic subtype, who was admitted for recent occurrence of left‐sided anesthesia with pain and progressive motor weakness of both legs. An MRI of the spine documented an intradural extramedullary mass dislocating the thoracic cord, suggesting a meningioma and the patient underwent surgical decompression. Histological examination revealed a lymphoproliferative neoplasm with morphology and immunophenotype of ALK‐positive anaplastic large cell lymphoma. After surgery, all preoperative symptoms disappeared. To our knowledge, no cases of ALCL presenting as secondary localization with an intradural extramedullary spinal mass have been reported in the literature.     

Bing-Neel syndrome presenting as isolated CNS lymphoplasmacytic lymphoma: A case report and review of the literature

Bing-Neel syndrome (BNS) is characterised by infiltration of the central nervous system by lymphoplasmacytic lymphoma (LPL) cells and is traditionally regarded as a complication of pre-existing systemic Waldenström’s macroglobulinaemia (WM). We describe the case of a 49 year old woman with leptomeningeal LPL who did not fulfil diagnostic criteria for concomitant systemic WM at presentation, and who failed to respond to conventional chemotherapy treatment (including high dose methotrexate) but did respond to the oral Bruton tyrosine kinase (BTK) inhibitor ibrutinib. This highlights an important variation in the typical natural history of this rare disease and also further supplements emerging evidence regarding efficacy of ibrutinib in its treatment.     

Primary ALK‐1‐negative anaplastic large cell lymphoma of the brain: Case report and review of the literature

Anaplastic large cell lymphoma (ALCL) is a type of non‐Hodgkin lymphoma composed of CD30‐positive cells. Anaplastic lymphoma kinase (ALK) ‐1 positive ALCL frequently involves both lymph nodes and extranodal sites. While primary extranodal involvement of ALK‐1 negative ALCL is rare, this case is unique in that it is a case of primary ALK‐1 negative ALCL of the brain. A 79‐year‐old man presented with dementia‐like symptoms. Neuroimaging revealed a well‐enhanced mass in the left parieto‐occipital region. The tumor was excised and histological diagnosis of primary ALK‐1‐negative ALCL was made. Primary ALK‐1‐negative ALCL in this case showed aggressive clinical behavior and fatal outcome. It is of great importance to avoid any delay in reaching an accurate diagnosis, as even primary ALCL of the brain is too seldom suspected clinically.     

Primary sciatic nerve lymphoma: a case report and review of the literature

A patient with primary B cell non-Hodgkin's lymphoma of the sciatic nerve is described. He presented with neuropathic symptoms in the left leg, initially diagnosed as tarsal tunnel syndrome. Magnetic resonance imaging (MRI) identified the abnormality in the sciatic nerve. A fascicular biopsy of the sciatic nerve showed a diffuse large B cell non-Hodgkin's lymphoma. The patient was treated with chemotherapy and rituximab (anti-CD20 monoclonal antibody). Four months later he was in remission, and remains so 48 months from presentation. Primary lymphoma of single peripheral nerves may be a unique subtype of extranodal lymphoma, which usually follows an aggressive course and has a variable response to current therapeutic strategies. MRI is useful, alongside electrophysiological studies, in patients with atypical peripheral nerve symptoms.     

Neuroblastoma in an adult causing spinal cord compression: report of a case and review of the literature

Adult neuroblastoma (ANB) is an uncommon malignancy, there being only 42 reported cases in the world literature. The purpose of this report is to present a case of ANB with spinal cord compression by an intraspinal component, and review methods of diagnosis and treatment. NB is one of the most frequent childhood malignancies (90% of the patients are less than 10 years old) and both pathologists and clinicians tend to exclude it from differential diagnosis when the patient is an adult. When the tumour is located in the paraspinal region, local extension through the intervertebral foramen into the spinal canal can occur in a dumbbell fashion, a pattern of growth first described by Weber in 1856.     

Limb-shaking transient ischemic attacks in an adult PHACE syndrome: a case report and review of the literature

PHACE syndrome is a neuro-cutaneous syndrome characterized by malformations of the Posterior fossa, facial Hemangiomas, Arterial anomalies, Cardiac anomalies, and abnormalities of the Eye. The arterial abnormalities usually involve the cervical and cerebral vasculature and include congenital abnormalities and progressive cerebral vasculopathy. The progressive cerebral vasculopathy leads to increased risk for arterial ischemic stroke (AIS) in patients with PHACE syndrome. Here we described the clinical neurological sequelae, the malformation of brain, the cervical and cerebral vasculopathy in a 23-year-old female of PHACE syndrome. Besides, she presented AIS with limb-shaking transient ischemic attack, a rare clinical presentation of AIS in patients of PHACE syndrome.     

Multiple sclerosis preceding CNS lymphoma: a case report

Multiple sclerosis (MS) is an autoimmune disease that targets the myelin of the brain, spinal cord, and optic nerves. The inciting trigger that activates this immune response is unknown. Primary central nervous system (CNS) lymphoma is usually a diffuse large B-cell non-Hodgkin's lymphoma that originates in the brain, spinal cord, leptomeninges, or eyes. We report a 33-year-old patient who was diagnosed to have multiple sclerosis initially and a CNS lymphoma was noted 38 months later. Primary CNS lymphoma is a potential complication of chronic immunosuppression. Due to the uses of steroid, immunosuppresants and beta-interferon for multiple sclerosis, our patient developed an immuno-compromised state. These agents might contribute to the occurrence of a primary CNS lymphoma. On the other hand, a demyelinating disease may have preceded the diagnosis of primary CNS lymphoma. A possibility of neoplastic transformation in CNS inflammatory diseases such as multiple sclerosis may occur. The association of coexistent primary CNS lymphoma and multiple sclerosis may be more than coincidental.     

原发性中枢神经系统非霍奇金淋巴瘤1例报道并文献复习

目的探讨原发性中枢神经系统非霍奇金淋巴瘤(PCNSL)的病因,诊断方法及治疗措施。方法结合文献回顾性分析我院收治的1例PCNSL患者的临床及影像学资料,进行诊断及鉴别诊断。结果病理活检明确诊断为PCNSL,患者依方案行化疗治疗,随访1年未见病变复发。结论 PCNSL是一种罕见的颅内肿瘤,发病隐匿,对放化疗敏感,临床需与多种颅内肿瘤相鉴别。     

经脑组织活检诊断的血管内淋巴瘤病:1例报道及文献复习

目的总结中枢神经系统血管内淋巴瘤(IVL)的临床特点、影像学表现和病理特征。方法报道1例以中枢神经系统症状首发并经脑组织活检诊断的血管内淋巴瘤病,并复习和比较相关文献报道。结果患者,38岁,女性,主要表现为肢体乏力、近事记忆力差、认知功能下降、癫痫发作等。头颅MR显示颅内多发的皮层或皮层下异常信号,呈T1WI低信号,T2WI高信号,FLAIR高信号,增强后呈不规则斑片状、环形强化。脑组织活检病理显示毛细血管内异型细胞,LCA、CD20、CD79α表达阳性,个别细胞呈Ki67阳性,确诊为中枢神经系统IVL。术后患者一般情况恶化,经抢救无效死亡。结论中枢神经系统血管内淋巴瘤病进展凶险,预后很差,提高认识,早期诊断和针对性化疗有助于改善患者的预后。     

成人苯丙酮尿症一例

目的探讨成人苯丙酮尿症(PKU)的病因、临床表现、影像学特点。方法分析1例成人PKU的临床表现、影像学表现、检查及治疗结果。结果本例成人PKU患者主要表现为行走不稳、智力减退,影像学表现主要为双侧脑室旁脱髓鞘。查血液苯丙氨酸浓度升高,尿液蝶呤检测提示6-丙酮酰四氢生物蝶呤合成酶缺乏。按PKU给予低苯丙氨酸饮食,对症支持治疗。随诊7年时,患者血液苯丙氨酸水平正常,但患者临床症状及头颅影像学与入院时比较无明显变化。结论 PKU起病隐匿,临床表现多样,常引起不可逆的中枢神经系统脱髓鞘改变。新生儿疾病筛查虽然是重要诊断手段,但还需对PKU进行鉴别诊断及分型,并根据分型采取不同治疗方法,改善患者预后。     

颅内原发性纤维组织细胞瘤三例报告及文献复习

目的 探讨颅内原发性纤维组织细胞瘤的流行病学、临床特点、诊断方法以及治疗手段等.方法 报道我院曾经收治的3例颅内原发性纤维组织细胞瘤病例,并结合既往文献对本病进行讨论.结果 本院3例患者通过手术治疗均达到了肿瘤的全切或近全切,文献中已知的术后随访结果也大都令人满意.结论 原发性纤维组织细胞瘤在颅内属于罕见的良性肿瘤,手术全切除肿瘤是治疗本病最确实可靠的手段,既可明确病理性质又可达到有效的治疗目的.     

Primary high-grade B-cell lymphoma of the CNS. Case report and review of the literature

We report the case of a 69-year-old patient referred to our clinic because of mania. When examined by neuroradiological imaging, there were lesions seen appearing and disappearing in different regions of the brain during a period of 2 months. Differential diagnosis of these changing lesions, progressive severe illness, and the role of glucocorticoid therapy concerning these lesions are discussed. The diagnosis of primary CNS lymphoma of the B-cell type could not made sure until autopsy.     

Pediatric giant cell glioblastoma: a case report and review of the literature

Introduction Giant cell glioblastoma is a subtype of glioblastoma multiforme (GM) whose most characteristic histology is the presence of plentiful multinucleated giant cells. These tumours are very rare and account for only 5% of GM. They do not have specific localization, although normally they are supratentorial and affect mostly the temporal lobe. They may occur at any age, but mostly they occur in younger people than GM. They are infrequent in childhood, but they have longer survival in paediatric age.Case report We present an 11-year-old girl that was operated but whose tumour recurred in a month after apparent total removal.Discussion We review in the literature the clinical, histological, immuno-histochemical and genetic characteristics, as well the prognosis of this tumour.