Dendritic cell neurofibroma with pseudorosettes (DCNWPR) is a recently proposed variant of neurofibroma with a distinctive microscopic appearance that is produced by a pseudorosette pattern formed by small, dark, lymp...Dendritic cell neurofibroma with pseudorosettes (DCNWPR) is a recently proposed variant of neurofibroma with a distinctive microscopic appearance that is produced by a pseudorosette pattern formed by small, dark, lymphocyte- like cells (Type I cells) arranged concentrically around larger cells, with pale- staining vesicular nuclei and copious faintly eosinophilic cytoplasm (Type II cells). Although DCNWPR appears not to be associated with neurofibromatosis (NF), 1 patient with DCNWPR has been described and suggested to have a form of NF because of multiple skin lesions, with 2 of them being DCNWPR as confirmed histologically. The aim of this study was to find out whether the neurofibromatosis type 2 (NF2) gene is mutated in DCNWPR. Seven histologically proven cases of DCNWPR, from which a substantial amount of archival paraffin- embedded material was available, were selected for this study. Three cases have been previously reported, including the intraneural lesion, and 4 cases were newly identified. There were 3 female and 4 male patients, ranging in age from 30 to 61 years (median, 48 yrs). All patients clinically presented with a small solitary lesion that was clinically diagnosed as fibroma or neurofibroma, and none of the patients had signs of NF. Follow- up was known for 6 patients (range, 1- 5 yrs; median, 2.5 yrs) and was uneventful in each case. Microscopically, all lesions fulfilled the criteria for DCNWPR. Exons 1 to 15 of the NF2 gene were amplified by PCR using primers previously published. The amplified fragments were purified and sequenced. The obtained sequences were computer analyzed and compared with the data of the GenBank database. No mutation was identified in 5 analyzed samples from which suitable DNA had been extracted. DCNWPR appears to have no mutation in exons 1- 15 of the NF2 gene. Given the relatively small number of cases studied, it seems premature to declare that amutation of the NF2 gene is not involved in DCNWPR, as the possibility cannot be excluded that mutations were present but remained undetected because they occurred in exons that were not examined.展开更多
目的探讨伴多层菊形团的胚胎性肿瘤(embryonal tumor with multilayered rosettes,ETMR)的临床病理特征。方法回顾性分析3例ETMR的资料并复习相关文献。结果3例ETMR患儿,男性2例,女性1例,年龄2岁至4岁2个月,中位年龄2岁9个月,发病部位:...目的探讨伴多层菊形团的胚胎性肿瘤(embryonal tumor with multilayered rosettes,ETMR)的临床病理特征。方法回顾性分析3例ETMR的资料并复习相关文献。结果3例ETMR患儿,男性2例,女性1例,年龄2岁至4岁2个月,中位年龄2岁9个月,发病部位:1例位于右侧额顶叶,2例位于脑干,临床表现为肢体活动不利或头痛、反复呕吐。大体呈实性,切面灰白灰红色,质软,低倍镜下见肿瘤细胞双相分化,细胞密度疏密不均,高倍镜下见密集区肿瘤细胞围绕血管形成假菊形团结构,并见少量真菊形团,伴灶状坏死,细胞稀疏区肿瘤分化相对较好,富含神经毡结构。免疫表型:肿瘤细胞散在表达LIN28A,也可表达胶质纤维酸性蛋白、Nestin等,p53和INI1未缺失,不表达Olig2,Ki-67阳性指数较高。荧光原位杂交检测显示C19MC基因高水平扩增。术后2例患儿行化疗,其中1例术后复发,3例患儿均死亡。结论ETMR罕见,高度恶性,其诊断依赖组织学、免疫表型及分子检测综合诊断。ETMR治疗为以手术为主并辅以术后化疗的综合治疗,预后差。展开更多
文摘Dendritic cell neurofibroma with pseudorosettes (DCNWPR) is a recently proposed variant of neurofibroma with a distinctive microscopic appearance that is produced by a pseudorosette pattern formed by small, dark, lymphocyte- like cells (Type I cells) arranged concentrically around larger cells, with pale- staining vesicular nuclei and copious faintly eosinophilic cytoplasm (Type II cells). Although DCNWPR appears not to be associated with neurofibromatosis (NF), 1 patient with DCNWPR has been described and suggested to have a form of NF because of multiple skin lesions, with 2 of them being DCNWPR as confirmed histologically. The aim of this study was to find out whether the neurofibromatosis type 2 (NF2) gene is mutated in DCNWPR. Seven histologically proven cases of DCNWPR, from which a substantial amount of archival paraffin- embedded material was available, were selected for this study. Three cases have been previously reported, including the intraneural lesion, and 4 cases were newly identified. There were 3 female and 4 male patients, ranging in age from 30 to 61 years (median, 48 yrs). All patients clinically presented with a small solitary lesion that was clinically diagnosed as fibroma or neurofibroma, and none of the patients had signs of NF. Follow- up was known for 6 patients (range, 1- 5 yrs; median, 2.5 yrs) and was uneventful in each case. Microscopically, all lesions fulfilled the criteria for DCNWPR. Exons 1 to 15 of the NF2 gene were amplified by PCR using primers previously published. The amplified fragments were purified and sequenced. The obtained sequences were computer analyzed and compared with the data of the GenBank database. No mutation was identified in 5 analyzed samples from which suitable DNA had been extracted. DCNWPR appears to have no mutation in exons 1- 15 of the NF2 gene. Given the relatively small number of cases studied, it seems premature to declare that amutation of the NF2 gene is not involved in DCNWPR, as the possibility cannot be excluded that mutations were present but remained undetected because they occurred in exons that were not examined.
文摘目的探讨伴多层菊形团的胚胎性肿瘤(embryonal tumor with multilayered rosettes,ETMR)的临床病理特征。方法回顾性分析3例ETMR的资料并复习相关文献。结果3例ETMR患儿,男性2例,女性1例,年龄2岁至4岁2个月,中位年龄2岁9个月,发病部位:1例位于右侧额顶叶,2例位于脑干,临床表现为肢体活动不利或头痛、反复呕吐。大体呈实性,切面灰白灰红色,质软,低倍镜下见肿瘤细胞双相分化,细胞密度疏密不均,高倍镜下见密集区肿瘤细胞围绕血管形成假菊形团结构,并见少量真菊形团,伴灶状坏死,细胞稀疏区肿瘤分化相对较好,富含神经毡结构。免疫表型:肿瘤细胞散在表达LIN28A,也可表达胶质纤维酸性蛋白、Nestin等,p53和INI1未缺失,不表达Olig2,Ki-67阳性指数较高。荧光原位杂交检测显示C19MC基因高水平扩增。术后2例患儿行化疗,其中1例术后复发,3例患儿均死亡。结论ETMR罕见,高度恶性,其诊断依赖组织学、免疫表型及分子检测综合诊断。ETMR治疗为以手术为主并辅以术后化疗的综合治疗,预后差。
