Advanced adenoma (AA) holds a significantly increased risk for progression to colorectal cancer (CRC), and we developed a noninvasive DNA methylation prediction model to monitor the risk of AA progression to CRC. We analyzed the differential methylation markers between 53 normal mucosa and 138 CRC tissues, as well as those in cfDNA (cell-free DNA) between 59 AA and 68 early-stage CRC patients. We screened the overlapping markers between tissue DNA and cfDNA for model variables and optimized the selected variables. Then, we established a cfDNA methylation prediction model (SDMBP model) containing seven methylation markers that can effectively discriminate early-stage CRC and AA in the training and validation cohorts, and the AUC (area under the curve) reached 0.979 and 0.918, respectively. Our model also reached high precision (AUC=0.938) in detecting advanced CRC (stage III/IV) and presented better performance than serum CEA and CA199 in screening CRC. The cd-score of the SDMBP model could also robustly predict the TNM stage of CRC. Overall, our SDMBP model can monitor the malignant progression from AA to CRC, and may provide a noninvasive monitoring method for high-risk populations with AA.
74岁女性,左大腿内侧结节伴红、肿、热、痛5年.皮损组织病理肿瘤位于真皮层,由梭形细胞、胖梭形细胞及多角形细胞组成,呈束状、编织状排列,部分瘤细胞呈上皮样或脂母细胞样,可见明显畸形或多形性核,核分裂像罕见.免疫组化染色示CD34和Vimentin弥漫阳性,INI-1表达无缺失,Ki-67阳性比例约1%.诊断:浅表性CD34阳性纤维母细胞性肿瘤.结节完整切除后随访6个月,未见复发.
目的 探讨在恶性黑色素瘤组织中如何快速褪除黑色素,便于进行免疫组织化学检测和观察.方法 选取20例恶性黑色素瘤组织石蜡切片,分别应用0.5%高锰酸钾水浴法、0.25%高锰酸钾溶液滴入法、15%过氧化氢浸泡法和传统过氧化氢脱色法进行褪黑色素处理,处理过的切片分别进行免疫组织化学和HE染色,比较染色结果.结果 以0.25%高锰酸钾溶液滴入法处理后的效果较为理想:HE染色显示切片完整,色素颗粒完全去除,组织形态和细胞形态清晰;免疫组织化学染色结果清晰易判读,具有较强的敏感性和特异性.结论 0.25%高锰酸钾溶液滴入法可作为恶性黑色素瘤去除色素颗粒的有效方法.
目的 探讨延髓肠源性囊肿的临床病理特点、诊断与鉴别诊断要点.方法 回顾性分析1例延髓肠源性囊肿的临床资料和组织形态特征,并复习相关文献.结果 行桥脑及延髓右前方占位切除术.镜下为纤维结缔组织囊壁,囊壁内衬覆假复层纤毛柱状上皮,局部上皮鳞化.术后随访8个月,无复发.结论 肠源性囊肿好发于脊椎管内,发生于延髓罕见.需与胶样囊肿、蛛网膜囊肿和Rathke囊肿等鉴别.
Anti-programmed cell death 1 (PD-1) and its ligand (PD-L1) has emerged as a novel immunotherapy for non-small cell lung cancer (NSCLC). However, the proportion of patients who may benefit from immunotherapy is limited and the factors sensitive or resistant to immunotherapy are not completely clear. Therefore, to identify reliable biomarkers as predictors of clinical response and resistance to anti-PD-1/PD-L1 therapies have become increasingly important. Here, we report a case of a patient with bone metastatic NSCLC, who achieved a pathologic complete response after preoperative pembrolizumab treatment. Postoperative pathological examination found no viable cancer cells in the resected pulmonary nodules and lymph nodes. Several high-frequency DNA damage response and repair (DDR) gene mutations including two germline mutations were identified in the primary lesion. Moreover, high PD-L1 expression, Kirsten rat sarcoma viral oncogene homolog (KRAS) combined with tumor protein 53 (TP53) mutations without epidermal growth factor receptor (EGFR)/anaplastic lymphoma kinase (ALK) driver alterations, high infiltration level of CD8-positive cells and M1 macrophages were observed, which were favorable characteristics for immunotherapy. We explored the possible factors related to an excellent response to immune checkpoint inhibitor in this patient and determined that preoperative use of anti-PD-1 therapy might apply to late-stage lung adenocarcinoma patients with multidimensional advantageous biomarkers for treatment with immune checkpoint inhibitors (ICIs). Key points We characterized the genomic features and immune microenvironment signature of a lung adenocarcinoma in a patient with bone metastasis who achieved pathologic complete response after pembrolizumab treatment. To evaluate multidimensional advantageous biomarkers for immunotherapy.
Objectives Primary pulmonary lymphoepithelioma-like carcinoma (LELC) is a rare subtype of non-small-cell lung cancer with no established treatment protocols. Immunotherapy is rarely used as a second-line choice in patients with advanced LELC, and more cases of this condition should be presented. Materials and methods We present a patient with advanced primary pulmonary LELC overcoming the resistance to second-line anti-programmed death-1 (PD-1) immunotherapy. We also review the literature to summarize the current immunotherapy landscape of this rare disorder. Results and conclusion The LELC patient progressed after first-line chemotherapy, was treated by immunotherapy alone and progressed again. To overcome the developed resistance to immunotherapy, chemotherapy with nedaplatin plus paclitaxel in addition to nivolumab was administered and a progression-free survival (PFS) of 5 months was achieved. It was also observed that the blood levels of neuron-specific enolase may act as an efficacy biomarker in LELC. Patients with this rare disorder resistant to anti-PD-1 immunotherapy might benefit from therapy based on PD-1 inhibition; this is a future avenue of research.
乳房裂头蚴病是一种寄生虫感染性疾病,由曼氏迭宫绦虫的幼虫感染所致[1-2].曼氏迭宫绦虫也可感染皮肤[3]、中枢神经[4]、尿道[5]等全身其他脏器[6],引起其他部位感染,传染源一般来自被感染的蛙类和蛇类.各地报道的蛙类、蛇类感染率存在一定的差异[7-8],人主要通过进食感染裂头蚴的蛙或蛇而患病.