目的 探讨上皮样胶质母细胞瘤(epithelioid glioblastoma,E-GBM)的临床病理学特征及鉴别诊断.方法 回顾性分析16例E-GBM的病理组织学特征、免疫表型及分子遗传学特征,并结合相关文献复习探讨E-GBM的诊断和鉴别诊断.结果 16例E-GBM中,男性9例,女性7例,中青年人多见.镜下肿瘤细胞呈弥漫成片生长,黏附性较差,可见坏死;肿瘤细胞呈上皮样、横纹肌样,胞质丰富、嗜酸性,泡状核,有明显的核仁,核分裂易见;部分病例可见微血管增生.免疫表型:16例GFAP均阳性,部分为弥漫阳性,部分局灶阳性;16例S-100和vimentin均强阳性;Oligo-2阳性(15/16),部分病例为灶阳性或少量肿瘤细胞阳性;EMA(6/16)、CK(AE1/AE3)(1/16)灶阳性;ATRX、INI-1和BRG-1均阳性;desmin、Myogenin、MyoD1、HMB45、Melan-A、SSTR2和IDH1均阴性;Ki-67增殖指数10％～60％.分子检测显示:16例中13例存在BRAF V600E基因突变,均未检测到IDH1基因R132位点及IDH2基因R172位点突变,均未发现EGFR基因扩增;其中10例同时检测了TERT启动子突变情况,均未发现突变.术后14例患者获得随访,6例死亡,8例存活,总生存时间1～60个月,中位生存时间10个月.结论 E-GBM是胶质母细胞瘤的一种少见亚型,好发于儿童及青少年,联合组织学特征、免疫组化标记及分子检测是诊断该肿瘤的有效手段,形态学上需与横纹肌样脑膜瘤、非典型畸胎样横纹肌样瘤、其他类型胶质母细胞瘤、转移性癌及其他转移性恶性肿瘤相鉴别.

AbstractBackgroundAnaplastic lymphoma kinase (ALK) fusion is a prognostic indicator for patients with non‐small cell lung cancer (NSCLC) receiving tyrosine kinase inhibitors (TKIs). The real‐world data of ALK TKIs remain a major concern.MethodsPatients with ALK‐positive advanced NSCLC, who received crizotinib or alectinib treatment in first line, were retrospectively reviewed. ALK status was detected using immunohistochemistry (IHC) or next‐generation sequencing (NGS). Clinical outcomes have been comprehensively analyzed between TKIs, ALK fusions, EML4‐ALK variants, and next‐generation TKIs after crizotinib failure.ResultsOne hundred sixty‐eight patients were successively enrolled (crizotinib, n = 109; alctinib, n = 59). Alectinib showed consistent superiority in progressive‐free survival (PFS) over crizotinib (hazard ratio [HR]: 0.43, 95% confidential interval [CI]: 0.24–0.77, p = 0.004). Multivariate Cox regression showed chemotherapy (CT) prior to TKIs or synchronous chemotherapy seemed not to improve PFS compared to ALK inhibitors alone (p > 0.05). And, alectinib was superior to crizotinib in prolonging intracranial PFS (HR 0.12, 95% CI: 0.03–0.49, p = 0.003). Patients in EML4 group had a better prognosis than those in non‐EML4 group after alectinib administration (HR 0.13, 95% CI: 0.03–0.60, p = 0.009). TP53 co‐mutations were relatively common (34.0%) and associated with adverse outcome in ALK‐positive patients (adjusted HR 2.22, 95% CI: 1.00–4.92, p = 0.049). After crizotinib failure, 33 patients received a sequential application of next‐generation ALK TKIs. Compared to ceritinib and brigatinib, alectinib might have better PFS (p = 0.043).ConclusionOur results revealed alectinib had better PFS and higher intracranial efficacy compared to crizotinib in ALK‐positive NSCLC, and might improve PFS by comparison with ceritinib and brigatinib after crizotinib failure.

目的 探讨原发中枢孤立性纤维性肿瘤(SFT)/血管周细胞瘤(HPC)临床病理学特点及诊断要点.方法 收集原发中枢SFT/HPC患者63例,分析其临床特点、影像学表现、病理组织学形态及免疫组织化学表型,并复习相关文献.结果 63例患者中,男35例,女28例,中位年龄45岁,主要临床表现为头晕、头痛、一侧肢体麻木等,病变部位多位于硬脑膜附近,以幕上多见,MRI多显示边界清晰的孤立性肿块,缺乏"硬脑膜尾征",瘤内可有囊变、坏死.显微镜下,肿瘤组织内富含鹿角样血管,瘤细胞围绕血管壁呈血管外皮瘤样排列.瘤细胞大小相对一致,呈短梭形、圆形或卵圆形,细胞界限不清,细胞胞浆少,细胞核圆形或卵圆形,核仁不明显,级别低者核分裂相稀少,级别高者核分裂相增多.免疫组织化学显示63例病例中,STAT6、CD34、Bcl-2及CD99阳性率分别为100.0％、42.9％、84.1％及90.5％;Ki-67增殖指数2％～40％之间.结论 原发中枢SFT/HPC少见,诊断时应结合临床及影像学特点,确诊以病理诊断为准,STAT6核阳性具有诊断意义.

Craniopharyngiomas (CPs) are benign tumors arising from the sellar region. However, little is known about their clinical features and long-term recurrence due to low morbidity and the lack of large cohort studies. Thus, we aimed to develop nomograms to accurately predict the extent of resection and tumor recurrence using clinical parameters. A total of 545 patients diagnosed with CP between 2009 and 2019 were examined: 381 in the development cohort and 164 in the validation cohort. Least absolute shrinkage and selection operator (LASSO) and Cox regression analyses were performed to establish two nomograms. Receiver operating characteristic (ROC) curves, calibration curves, decision curve analysis (DCA) and Kaplan-Meier (KM) curves were used to evaluate their predictive performance and discriminative power, respectively, in the two cohorts. In addition, the EORTC QLQ-BN20 questionnaire was used to assess neuropsychological status in the follow-up. In the development cohort, the area under the curve (AUC) and C-index were 0.760 and 0.758, respectively, for predicting the extent of resection and 0.78 and 0.75, respectively, for predicting 3-year progression-free survival (PFS) and 5-year PFS. Additionally, the model had a predictive accuracy of 0.785. Both nomograms showed acceptable discrimination in the two cohorts. Moreover, DCA demonstrated excellent clinical benefits from the two nomograms. Finally, participants were classified into two distinct risk groups according to the risk score, and an online calculator was created for convenient clinical use. During long term follow-up, hypothyroidism (77.61%) and hypocortisolism (76.70%) were the most common endocrine dysfunction after surgery and significant deficits were observed concerning visual disorder, motor dysfunction and seizures in the recurrent groups. In particular, better quality of life was associated with gross total resection (GTR), postoperative radiation, anterior interhemispheric (AI) approach and transsphenoidal approach. To our knowledge, these are the first nomograms based on a very large cohort of patients with CP that show potential benefits for guiding treatment decisions and long-term surveillance. The current study demonstrated the online calculator serve as the practical tool for individual strategies based on the patient’s baseline characteristics to achieve a better prognosis.

Primary spinal cord glioblastoma multiforme (scGBM) is an uncommon entity in pediatrics, and intracranial metastasis originating in spinal cord gliomas is very rare. A 7-year-old female presented with weakness in the limbs, paralysis of the lower limbs and incontinence. The initial MRI of the spinal cord revealed expansion and abnormal signals from T2 to T5. She was initially diagnosed with Neuromyelitis optica spectrum disorders and treated with high-dose glucocorticoid and gamma globulin. Four months later, her symptoms worsened and follow-up imaging showed multiple intracranial mass lesions. We performed a subtotal resection of the right thalamic basal ganglia tumor and gross total resection of the right frontal lobe tumor under microscopic examination. Histopathology revealed scGBM with intracranial metastasis and the molecular pathology diagnosis suggested H3K27M mutant diffuse midline glioma WHO grade IV, which had previously been misdiagnosed as a Neuromyelitis optica spectrum disorders. We review the literature of intracranial metastases originating from pediatric primary spinal cord glioblastoma multiforme and summarize possible methods of differentiation, including changes in muscle strength or tone, intramedullary heterogeneously enhancing solitary mass lesions and cord expansion in MRI. Finally, we emphasize that in unexpected radiological changes or disadvantageous response to the treatment, a biopsy to achieve a pathological diagnosis is necessary to discard other diseases, especially neoplasms.

Background Malignant peripheral nerve sheath tumor (MPNST) is extremely rare in soft tissue sarcoma, with a high rate of recurrence and metastasis. Due to its rarity, the epidemiological features and prognostic factors are still uncertain. Moreover, nomograms for patients with MPNST have not been constructed and validated until now. Patients and methods Patients diagnosed with MPNST between 1973 and 2014 were selected from the Surveillance, Epidemiology, and End Results (SEER) database. Survival analysis, machine learning and Lasso regression were used to identify the prognostic factors for overall survival (OS) and cause-specific survival (CSS). Significant prognostic factors were integrated to construct nomograms and then the nomograms were validated externally with a separate cohort from our own institution. Results A total of 689 patients were included in the training set and 42 patients in the validation set. Multivariate analysis suggested that age, histology, historic stage and chemotherapy were independent prognostic factors for OS and primary site, surgery, historic stage and chemotherapy for CSS. The nomograms based on multivariate models were developed and validated for predicting 3- and 5-year OS and CSS, with a C-index of 0.686 and 0.707, respectively. In the external validation set, the C-index was 0.700 for OS and 0.722 for CSS. Conclusion ICD-O-3 histology, historic stage and chemotherapy were independent prognostic factors for OS and primary site, surgery, historic stage and chemotherapy for CSS. The constructed nomograms could provide individual prediction for MPNST patients and assist oncologists in making accurate survival evaluation.

Objective: To explore the characteristics of clinical pathology, diagnosis, and prognosis of primary renal lymphoma (PRL).Methods: The clinical features, pathological features, immune phenotypes, treatment, and prognosis of 22 patients were retrospectively analyzed. Results: The PRL patients' ages ranged from 2 to 72 years (mean, 54.3 years), of which 13 patients were older than 50 years (59.1%). All of the 22 patients were diagnosed with non-Hodgkin's lymphoma (NHL), including 20 cases of B-cell lymphoma and 2 cases of T-cell lymphoma. Seven patients were still alive and survived for 6-50 months, but the other 15 were dead and survived for only 5-35 months. Conclusion: PRL is uncommon. Clinical manifestations and imaging performance specificity are not obvious. and easily misdiagnosed. Histopathology is still the golden standard for the final diagnosis of this entity. The kidney is most easily involved followed by the bladder. B-cell NHL is the common subtype, and the most common type is the diffuse large B-cell lymphoma. Up to now,no standard regime could be performed for PRL patients. At present, comprehensive therapy, including surgery and chemotherapy, is recommended. For patients with locally advanced or highly aggressive status, therapeutic effect with chemotherapy alone is usually satisfied.

Objective To study the clinicopathological characteristics and prognostic factors of primary central nervous system lymphoma (PCNSL).Methods A total of 79 cases of PCNSL were collected by surgical removal or biopsy,and then pathological characteristics and immunophenotype were observed by using HE staining and EnVision immunohistochemistry.Univariate analysis was used to study the relationships between prognosis and the factors including age,site,number of lesions,IPI score and immune subtype.Then we used the Cox regression model to analyze multivariate influence factors.Results The most common type of PCNSL was diffuse large B cell lymphoma (DLBCL)and the immunophenotype was mainly non-GCB type.Univariate analysis showed that age,IPI score and BCL-6 protein expression were releted to the prognosis (P ＜ 0.05).Multivariate analysis showed that IPI score was an independent factor (P ＜ 0.05).Conclusion PCNSL is a highly invasive cancer,with poor prognosis,and short-term mortality is high.IPI score is an independent factor.There is no significant difference in the prognosis between GCB and non-GCB subtypes of DLBCL.