ObjectiveTo review the clinical records of patients with central nervous system (CNS) embryonal tumors, not otherwise specified (NOS); and summarize their clinical features, diagnosis, and treatment.MethodWe reviewed the data of patients with intracranial tumors admitted to Department of Neurosurgery of West China Hospital, Sichuan University from January 2014 to December 2016, and retrospectively analyzed the clinical features, diagnosis, and treatment of seven patients with CNS embryonal tumors, NOS.ResultsThere were 4 males and 3 females, and the mean age was 25.4 years old. The tumor was located in cerebral hemisphere in 5 patients, and in third ventricle in 2. Clinical presentation included headache, nausea, and vomiting due to intracranial hypertension, and focal neurological signs. All patients underwent craniotomy for tumor resection and postoperative pathology confirmed CNS embryonal tumor, NOS. The patients were followed up for 6 months to 3 years, and 2 patients died during follow-up.ConclusionsCNS embryonal tumor, NOS is malignant intracranial lesion, and has been enlisted as a separate entity under classification of CNS embryonal tumors. It has its unique radiological features, including rare occurrence of perilesional edema, cystic changes, and clear demarcation. Through comprehensive treatment including surgical resection, chemotherapy, and radiation therapy, patients can enjoy prolonged survival and improved quality of life.
【摘要】 目的 探討成人幕上低級別膠質瘤（WHO Ⅱ級）患者術后生活質量的影響因素。 方法 回顧性分析2008年10月—2010年5月經手術切除病變、術后病理證實為低級別膠質瘤的115例患者臨床資料，術后隨訪6~24個月。以患者年齡、性別、主要臨床癥狀、病變部位、病變大小及病理結果為自變量，以術后Karnofsky評分（KPS）改善為因變量，采用Logistic回歸分析研究相關影響因素。采用秩和檢驗比較不同組間KPS差異。 結果 隨訪至術后6個月，患者年齡、病變大小、病變部位、切除范圍以及是否有癲癇史在KPS比較中，其結果有統計學意義（Plt;0.05）。隨訪至術后12個月，切除范圍和癲癇史對KPS評分已無影響（Pgt;0.05）。病理類型、術前是否存在神經功能障礙與術后KPS改善在單因素和多因素比較中無統計學意義。 結論 患者年齡≤50歲、術前有癲癇史、腫瘤直徑≤4 cm、病變表淺、腫瘤全切除的患者術后KPS改善好于年齡gt;50歲、術前無癲癇史、腫瘤直徑gt;4 cm、病變深在、腫瘤次全切除的患者。患者術前是否存在神經功能障礙和病理類型與術后生活質量是否改善無明顯關系。復發也是影響患者術后KPS改善的因素。【Abstract】 Objective To assess the quality of life in adults with surgically managed cerebral supratentorial low grade glioma (WHO grade Ⅱ) and the relevant factors. Methods We retrospectively analyzed the clinical data of 115 patients with histologically proven supratentorial low grade glioma enrolled at West China Hosptial from October 2008 to May 2010. Follow-up lasted for 6 to 24 months after operation. Logisitc regression analysis is used to test the relevant factors with age, gender, main clinical manifestations, lesion location, lesion size and pathological results as the independent variables, and Kamofsky postoperative scale (KPS) scores as dependent variable. KPS scores of different groups were analyzed using the rank test. Results After 6 months of follow-up, we found that age, size, location, extent of surgical excision and eplispy history showed a statistical significance in KPS comparison (Plt;0.05). Till the 12th month in the follow-up, the extent of surgical excision and eplispy history were not statistically significant any more (Pgt;0.05). Histology type and neurological deficit had no relationship with KPS improvement in both single factor analysis and multivariate analysis. Conclusions Patients with an age older than 50 years, preoperative epilepsy history, the largest diameter of the tumor less than 4 cm, shallow lesions, and complete tumor resection have a better KPS improvement after operation than those with corresponding opposite conditions. There is no obvious relationship between histology type, neurologic deficits and KPS improvement after operation. Recurrence is also a factor influencing KPS improvement after operation.
ObjectiveTo provide reference for further treatment by analyzing the relationship between mutant genes of breast cancer and histological classification and molecular typing of breast cancer.MethodsRetrospectively collectted the pathological specimens of 46 breast cancer patients who treated by the Dongguan Maternal and Child Health Hospital and the Dongguan Houjie Hospital between February 2016 and August 2017 without chemotherapy. Among the selected 46 breast cancer patients, we detected tumor tissue estrogen receptor (ER)/ pregnancy hormone receptor (PR)/human epidermal growth factor receptor-2 (HER-2) status by immunohistochemistry and classified the pathological tissue section. By using multiple PCR techniques, we detected 207 hot mutation regions of the 50 extended tumor-related genes on the semiconductor sequencing platform.ResultsThere were 8 cases of grade Ⅰ, 18 cases of grade Ⅱ, 20 cases of grade Ⅲ in 46 breast cancer patients according to histological grade. Of the 46 cases, there were 23 cases of Luminal B, 9 cases of Luminal A, 9 cases of HER-2 (+), 5 cases of type besal-like according to ER/PR/HER-2 expression status. Moreover, we found that there were 33 gene locus mutations of 8 genes, including AKT1, APC, BRAF, CDKN2A, KRAS, PTEN, PIK3CA, and TP53. Among of them, the mutation of PIK3CA gene took the most of 24 cases, followed by TP53 (18 cases), 2 cases of CDKN2A gene mutation, and 1 case in the remaining four types of genes respectively. we found that the gene mutations of breast cancer were not related to the histological classification and molecular type (P>0.05), the PIK3CA gene mutation was related to the histological classification of breast cancer, the lower the histological classification level, the higher PIK3CA gene mutation rate (P<0.05). TP53 gene mutation was not related to histological grading and molecular type (P>0.05).Conclusions The PIK3CA gene mutation rate in patients with histological grading Ⅰ level increased significantly. The combination of PIK3CA gene mutation and histological grading of breast cancer may become a molecular biological indicator to judge the degree of malignancy and prognosis of breast cancer.
