中枢神经系统黑色素瘤的诊治

目的 总结中枢神经系统黑色素瘤的临床特征及诊治经验.方法 回顾性分析6例中枢神经系统黑色素瘤病人的临床资料,肿瘤位于颈椎椎管内1例,颅后窝1例,大脑半球4例.临床表现依据肿瘤所在位置而不同,临床症状、体征无特异性.术前影像学误诊率达67%.结果 手术治疗5例,其中显微镜下全切除4例,次全切除1例;放射治疗1例.5例行病理检查显示:恶性黑色素瘤3例,良性2例.随访5例,3例恶性黑色素瘤病人死亡,2例良性黑色素瘤病人存活.结论 原发于中枢神经系统的恶性黑色素瘤及转移性黑色素瘤预后差,应在手术基础上采取综合治疗;而良性黑色素瘤应尽可能全切,术后预后良好.     

原发性中枢神经系统神经母细胞瘤临床特征及预后分析

目的探讨原发性中枢神经系统神经母细胞瘤的临床特征及预后。方法回顾性分析采用手术治疗的8例原发性中枢神经系统神经母细胞瘤病人的临床资料,其中术后行单纯放疗4例,单纯化疗1例,放化疗1例。结果肿瘤全切4例,近全切除3例,部分切除1例。术后均经病理确诊为原发性中枢神经系统神经母细胞瘤。随访8例,中位随访时间21个月。术后复发5例,中位复发时间8个月,其中死亡4例,中位生存期24.5个月,存活1例。结论原发性中枢神经系统神经母细胞瘤临床罕见,需通过病理确诊。治疗宜采用肿瘤全切除术,术后辅助放化疗。     

儿童颅后凹髓母细胞瘤的诊断及手术治疗

目的分析儿童髓母细胞瘤的临床特点及手术治疗方法与疗效。方法总结47例经手术病理证实的儿童髓母细胞瘤病人的临床资料。肿瘤均位于颅后凹,其中小脑蚓部36例,小脑半球11例。术后均予放疗与化疗。结果肿瘤全切除29例,大部切除16例,部分切除2例。死亡3例。随访2~10年,肿瘤全切者生存率63.4%,未全切者生存率23.7%;平均生存26.7个月。结论手术全切除肿瘤,解除导水管梗阻,术后予全脑加全脊髓放疗,可延长生存期。     

原发性中枢神经系统黑色素细胞瘤2例临床病理分析

目的探讨中枢神经系统原发性黑色素细胞瘤的临床病理特点、免疫表型、诊断及鉴别诊断要点。方法收集2011年收治的2例中枢神经系统原发性黑色素细胞瘤患者的临床资料,对病理组织学及免疫表型进行分析。结果 2例患者临床上均为单发肿块,无皮肤色素性肿瘤病变。1例发生于鞍区,1例发生于椎管内,均表现为局部缓慢生长的软组织肿块,术前病程分别为3年及10年。手术时肿瘤大体检查肿块呈褐色、质实。病理检查镜下表现为梭形及卵圆形肿瘤细胞漩涡状、巢状分布,细胞胞质内见不同程度的黑色素沉着,核分裂罕见,平均计数1个/10 HPFs。免疫组化学检测示肿瘤细胞S-100蛋白、HMB45蛋白、波形蛋白均阳性;细胞角蛋白、上皮细胞膜抗原、胶质纤维酸性蛋白均阴性;1例神经元特异性烯醇化酶局部阳性表达。结论发生于鞍区及脊髓腰段的中枢神经系统原发性黑色素细胞瘤较少见,具有一定的组织病理学特点。肿瘤虽然生长缓慢,但可局部复发,甚至可恶变,需长期随访。     

中枢神经系统脑脊膜黑色素细胞瘤三例及文献复习

目的 探讨中枢神经系统脑脊膜黑色素细胞瘤(PMM)临床及病理学特征.方法 结合文献复习,回顾性分析3例中枢神经系统原发的脑脊膜黑色素细胞瘤.结果 2例肿瘤位于椎管内,1例位于小脑脑桥角.肿瘤外观呈黑色,部分肿瘤包膜完整.光镜下见瘤细胞由上皮样细胞和梭形细胞混合而成,细胞无明显异型,核仁明显.大部分瘤细胞质内含有大量黑色素颗粒.例1、例3肿瘤核分裂像无或偶见(0～1个/10 HPF),例2核分裂像较多(2～3个/10 HPF).免疫表型HMB45、MelanA和S-100蛋白呈阳性表达.例1、例2肿瘤完全切除,例3部分切除,随访均无复发.结论 原发性脑脊膜黑色素细胞瘤是一种罕见的交界性或低度恶性肿瘤,具有一定的病理学特征,可局部复发或发生恶变,需要与原发或转移的恶性黑色素瘤、黑色素性脑膜瘤及黑色素性神经鞘瘤进行鉴别.     

原发性中枢神经系统淋巴瘤影像学及病理学特征

目的探讨原发性中枢神经系统淋巴瘤(PCNSL)的临床特征,提高诊断准确率。方法回顾性总结分析自1995年1月至2005年11月经手术、活检、术后病理及免疫组化检查证实的16例PCNSL患者的临床资料,分析其病变部位、影像学表现、组织病理学特征、诊断及治疗。结果单发肿瘤10例,多发肿瘤6例;11例位于幕上,3例位于小脑,1例位于咽旁间隙并累及内听道、桥小脑角,1例位于椎管内,其中位于后颅窝5例,基底节、脑室周围白质和小脑蚓部易受累,具有一定的影像学和病理学特征;全部病例均行手术,见肿瘤多呈肉红色或灰白色,质地较软,血供丰富,边界较清,无包膜。结论PCNSL的影像学和组织病理学有一定特征,有助于提高诊断准确率。     

颅内原发性淋巴瘤13例分析

目的探讨原发性中枢神经系统淋巴瘤的临床诊断和治疗。方法回顾性分析我院1997—02-2008—12经病理证实的13例原发性中枢神经系统淋巴瘤的临床特点及治疗结果。结果13例病人中8例手术切除,5例立体定向活检。本组13例病人共22个肿瘤,其中7例（53．8％）为单发肿瘤,6例（46．2％）为多发性肿瘤。肿瘤多位于额叶、颞叶部及基底节区,12例（92．3％）肿瘤位于小脑幕上。病理学检查发现病人均为B细胞来源。13例患者均行化疗及放疗,生存时间为6～51个月,平均23．5个月。结论原发性中枢神经系统淋巴瘤术前诊断困难,预后差,诊断主要依靠病理。该病多采用综合治疗,手术治疗,辅以化疗及放疗。     

成人髓母细胞瘤

目的　分析总结成人髓母细胞瘤的临床特点及治疗效果。方法　经手术及病理证实的成人髓母细胞瘤５３ 例, 其中男性３６ 例, 女性１７ 例, 平均年龄２５８ 岁。肿瘤均位于小脑, 蚓部２９ 例,小脑半球２４ 例, 伴鞍上转移１ 例。结果　全切２０ 例, 近全切除２０ 例, 大部切除１２ 例, 部分切除１例, 手术死亡率１９ ％ 。随访到４０ 例, 均已行放疗, 复发１７ 例, 中枢神经系统种植转移４ 例, ５ 年存活率４０ ％ 。结论　手术全切除肿瘤, 解除导水管梗阻, 术后予全脑加全脊髓放疗, 可延长生存期, 一旦出现种植转移, 则预后差。     

原发性中枢神经系统淋巴瘤的诊治

目的 探讨原发性中枢神经系统细胞瘤的临床诊断和治疗.方法 回顾性分析我院2001年12月至2005年5月间经立体定向活检或手术病理证实的12例原发性中枢神经系统细胞瘤临床表现特点及治疗结果.结果 12例病人中手术切除7例,立体定向活检5例.本组12例共21个肿瘤,其中7例(58.3%)为多发性肿瘤,肿瘤多位于额部、颞顶部及基底节区,11例(91.7%)病人肿瘤主体均位于小脑幕上.组织病理学检查发现12例病人均为B细胞来源.4例病人辅以放疗,8例病人辅以放疗和化疗,生存时间为4-37个月,中位生存时间为16.3个月.结论 原发性中枢神经系统细胞瘤术前诊断困难,预后差,诊断主要靠病理.该疾病多采用综合治疗,术后辅以放、化疗.近年的大剂量甲氨蝶呤化疗受到关注.     

原发性桥小脑角淋巴瘤1例

目的报告1例原发性桥小脑角淋巴瘤并文献回顾。方法回顾性分析1例经枕下乙状窦后入路手术的桥小脑角淋巴瘤病人的临床资料,分析桥小脑角淋巴瘤的临床特征、影像学特点、鉴别诊断及治疗。结果第1次手术全切除肿瘤,病理诊断为B细胞型淋巴瘤,术后1个月肿瘤复发,再次手术全切除肿瘤,术后辅以化疗,随访2个月未见肿瘤复发。结论原发于桥小脑角的淋巴瘤少见,术后易复发,需辅以放化疗等综合治疗。     

Primary atypical melanocytoma arising from the cavernous sinus in a child

Introduction

Primary melanocytic lesions of the central nervous system originate from leptomeningeal melanocytes, with a spectrum ranging from well-differentiated benign meningeal melanocytomas to malignant melanomas. Atypical melanocytomas are borderline tumors, which have clinical and pathological characteristics between benign melanocytomas and malignant melanomas. Melanocytomas are rare in children and infrequently arise from the cavernous sinus. Approximately five patients with such an origin site have been reported.

Materials and methods

We report a 15-year-old girl with an atypical melanocytoma arising from the cavernous sinus. She underwent partial resection of the tumor and postoperative gamma knife surgery (GKS). She is stable 39 months after surgery.

Conclusion

We discuss the first pediatric case with an intracranial atypical melanocytoma arising from the cavernous sinus.

     

Primary melanocytic tumors of the central nervous system: a neuroradiological and clinicopathological study of five cases and brief review of literature

Primary melanocytic tumors of the central nervous system (CNS) are uncommon lesions. These lesions arise from the melanocytes located within leptomeninges and include diffuse melanocytosis and meningeal melanomatosis (seen in neurocutaneous melanosis), melanocytoma, and malignant melanoma. To study, the clinical course, neuroradiological features, morphology and immunohistochemistry of primary melanocytic tumor of CNS. Demographic, clinical and surgico-pathologic findings of five patients with melanocytic tumors seen between 1996 and 2003 were studied. In this study, five cases of primary melanocytic tumors have been reported: four cases of malignant melanoma and one case of melanocytoma. Three of the 5 cases were intracranial and 2 were spinal. The mean age in the present study was 26 years. Presenting features varied according to the location. Primary melanocytic tumor of CNS are rare. Whenever possible, complete surgical excision is the best treatment.     

The diagnostic dilemma of primary central nervous system melanoma

Melanomas are malignant neoplasms of melanocytes developing predominantly in the skin, but occasionally arising from eyes, mucous membranes, and the central nervous system (CNS). The CNS can be affected by a spectrum of melanocytic lesions ranging from diffuse neurocutaneous melanosis, to a focal and benign neoplasm (melanocytoma), and to an overtly malignant tumor (melanoma). Primary melanocytic lesions involving the CNS are typically concentrated in the perimedullary and high cervical region. Primary CNS melanoma cannot be reliably distinguished from metastatic melanoma on neuroimaging and histopathological characteristics alone: its diagnosis is established only after exclusion of secondary metastatic disease from a cutaneous, mucosal or retinal primary. We present two patients with primary CNS melanoma and discuss relevant issues, available treatment options, and expected outcomes. Awareness of disease spectrum and clinico-biological differences may be used to guide therapeutic decision-making for a patient with a proven or suspected primary CNS melanoma.     

Cervical intramedullary melanocytoma: A case report and review of literature

Meningeal melanocytomas are rare tumours of the central nervous system, most commonly found in the intracranial compartment (posterior cranial fossa). Spinal lesions are uncommon, with the majority being intradural, extramedullary lesions. Intramedullary melanocytomas are extremely rare and are most commonly found in the thoracic region. We report a patient with cervical intramedullary melanocytoma and review the available literature regarding this rare pathology.     

Activating mutations of the GNAQ gene: a frequent event in primary melanocytic neoplasms of the central nervous system

Primary melanocytic neoplasms of the central nervous system (CNS) are uncommon neoplasms derived from melanocytes that normally can be found in the leptomeninges. They cover a spectrum of malignancy grades ranging from low-grade melanocytomas to lesions of intermediate malignancy and overtly malignant melanomas. Characteristic genetic alterations in this group of neoplasms have not yet been identified. Using direct sequencing, we investigated 19 primary melanocytic lesions of the CNS (12 melanocytomas, 3 intermediate-grade melanocytomas, and 4 melanomas) for hotspot oncogenic mutations commonly found in melanocytic tumors of the skin (BRAF, NRAS, and HRAS genes) and uvea (GNAQ gene). Somatic mutations in the GNAQ gene at codon 209, resulting in constitutive activation of GNAQ, were detected in 7/19 (37%) tumors, including 6/12 melanocytomas, 0/3 intermediate-grade melanocytomas, and 1/4 melanomas. These GNAQ-mutated tumors were predominantly located around the spinal cord (6/7). One melanoma carried a BRAF point mutation that is frequently found in cutaneous melanomas (c.1799 T>A, p.V600E), raising the question whether this is a metastatic rather than a primary tumor. No HRAS or NRAS mutations were detected. We conclude that somatic mutations in the GNAQ gene at codon 209 are a frequent event in primary melanocytic neoplasms of the CNS. This finding provides new insight in the pathogenesis of these lesions and suggests that GNAQ-dependent mitogen-activated kinase signaling is a promising therapeutic target in these tumors. The prognostic and predictive value of GNAQ mutations in primary melanocytic lesions of the CNS needs to be determined in future studies.     

中枢神经系统原发性黑色素瘤10例临床分析

目的 探讨中枢神经系统原发性黑色素瘤的诊治与随访结果.方法 回顾性分析自2002年1月至2013年1月收治的10例中枢神经系统原发性黑色素瘤患者的临床表现、影像学特点、病理结果、手术治疗与预后情况.结果 10例黑色素瘤患者中发生于颅内者8例,椎管内者1例,颅颈交界区1例.手术全切除8例,大部切除2例.病理检查黑色素瘤8例,脑脊膜黑色素细胞瘤2例.随访3月至11年,6例死亡,其中1例术后综合治疗后存活了7年,后因并发症死亡,术后中位生存期1.1年.4例术后放疗,恢复正常生活.结论 中枢神经系统原发性黑色素瘤发病率低,但术前诊断困难,误诊率较高.手术切除为首选,术后结合放、化疗,可延长生存时间,但总的预后差.     

Spinal meningeal melanocytoma simulating neurinoma: case report

Meningeal melanocytomas are infrequent tumors that when located in the spinal cord and because of their close relationship to the nerve root can resemble a neurinoma. The MRl can help to differentiate them from the neurinomas preoperatively. The case of a female patient harboring a cervical meningeal melanocytoma involving the C7 nerve root, and diagnosed preoperatively as an hourglass neurinoma is presented.     

Improved discrimination of melanotic schwannoma from melanocytic lesions by combined morphological and GNAQ mutational analysis

The histological differential diagnosis between melanotic schwannoma, primary leptomeningeal melanocytic lesions and cellular blue nevus can be challenging. Correct diagnosis of melanotic schwannoma is important to select patients who need clinical evaluation for possible association with Carney complex. Recently, we described the presence of activating codon 209 mutations in the GNAQ gene in primary leptomeningeal melanocytic lesions. Identical codon 209 mutations have been described in blue nevi. The aims of the present study were to (1) perform a histological review of a series of lesions (initially) diagnosed as melanotic schwannoma and analyze them for GNAQ mutations, and (2) test the diagnostic value of GNAQ mutational analysis in the differential diagnosis with leptomeningeal melanocytic lesions. We retrieved 25 cases that were initially diagnosed as melanotic schwannoma. All cases were reviewed using established criteria and analyzed for GNAQ codon 209 mutations. After review, nine cases were classified as melanotic schwannoma. GNAQ mutations were absent in these nine cases. The remaining cases were reclassified as conventional schwannoma (n = 9), melanocytoma (n = 4), blue nevus (n = 1) and lesions that could not be classified with certainty as melanotic schwannoma or melanocytoma (n = 2). GNAQ codon 209 mutations were present in 3/4 melanocytomas and the blue nevus. Including results from our previous study in leptomeningeal melanocytic lesions, GNAQ mutations were highly specific (100%) for leptomeningeal melanocytic lesions compared to melanotic schwannoma (sensitivity 43%). We conclude that a detailed analysis of morphology combined with GNAQ mutational analysis can aid in the differential diagnosis of melanotic schwannoma with leptomeningeal melanocytic lesions.     

椎管内原发性黑色素细胞肿瘤(附5例报告)

目的总结椎管内原发性黑色素细胞肿瘤的临床特点。方法分析5例椎管内黑色素细胞起源肿瘤病人的临床资料，结合文献，对其流行病学、病理类型、影像特征、诊治和预后等进行讨论。结果本组男3例，女2例；年龄31-47，平均38-2岁。椎管内肿瘤单发4例，多发1例；髓外硬膜下4例，髓内1例。短T1、短T2信号为其典型MRI特征。病理诊断为恶性黑色素瘤3例，黑色素细胞瘤2例。不同病理类型的治疗方法和预后迥然不同。结论早期诊断、显微手术全切除是获得良好预后的关键；应根据不同病理类型采取适宜的放、化疗措施。     

Primary cerebellopontine angle melanoma: a case report and review

Primary melanomas at the cerebellopontine (CP) angle are extremely rare and considered a diagnostic dilemma. With only 16 prior cases reported so far, there is not enough material in world literature. We report a 29-year-old male who presented with vertigo, headache and features of lower cranial nerve involvement with MRI revealing a melanotic lesion at CP angle. The patient underwent right suboccipital craniectomy and only subtotal excision of the tumor was possible. Histopathologically it turned out to be malignant melanoma. Since a thorough search for any possible primary was futile, it was considered a primary melanoma. Patient was given adjuvant radiotherapy. Ten months later, he presented with weakness and multiple spinal metastases and two months later he succumbed to his disease. We did a comprehensive review of literature about various melanocytic tumors at the CP angle. Pathologically, melanocytic tumors range from benign melanocytomas to malignant melanoma with variable prognosis. The clinical presentation depends upon whether the lesions are diffuse or discrete. Surgery is the primary modality of treatment and the amount of tumor excised is related to the prognosis. We conclude the discussion with a novel classification for melanotic tumors of CNS and the current diagnostic pathway for a melanotic lesion at the CP angle.