alpha-Fetoproteins

甲胎蛋白
  • 文章类型: Case Reports
    背景:畸胎瘤是最常见的先天性肿瘤,但是轨道位置很少见。它由外胚层组织组成,中胚层,和内胚层。
    方法:先天性眼眶畸胎瘤通常表现为单侧眼球突出,随着快速增长,导致暴露性角膜病变。
    方法:产前超声可以检测眼眶肿块,计算机断层扫描(CT)扫描,磁共振(MR)成像更好地显示多房性囊性和实性肿块,没有骨侵蚀。实验室检查应包括甲胎蛋白(AFP)和B-人绒毛膜促性腺激素(B-HCG),和组织病理学,它包含所有三个生殖细胞层组件。治疗方法是手术切除病灶,成熟的畸胎瘤有良性行为,未成熟者预后较差。我们描述了一个罕见的先天性眼眶畸胎瘤,病变颅内扩展,其中采用眼眶切除术治疗。手术后,AFP水平下降,中间工作面位移有所改善,发展里程碑适当。
    BACKGROUND: Teratoma is the most common congenital tumor, but the orbital location is rare. It is composed of tissues from ectoderm, mesoderm, and endoderm.
    METHODS: Congenital orbital teratoma commonly presents as unilateral proptosis, with rapid growth, leading to exposure keratopathy.
    METHODS: Prenatal ultrasound may detect the orbital mass, computed tomography (CT) scans, and magnetic resonance (MR) imaging are better in demonstrating multilocular cystic and solid mass, without bone erosion. Laboratory tests should include alfa-fetoprotein (AFP) and B-human chorionic gonadotropin (B-HCG), and histopathologically, it contains all three germ cell layers components. The management is surgical removal of the lesion, the mature teratoma has a benign behavior, and the immature has a poor prognostic. We describe a rare case of congenital orbital teratoma with intracranial extension of the lesion, in which was treated with orbital exenteration. After surgery, AFP levels decreased, the middle face displacement has improved and development milestones were appropriate.
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  • 文章类型: Journal Article
    卵巢肝样腺癌(hepatoid carcinoma of the ovary,HCO)是一种罕见的原发于卵巢的具有肝样分化特征的特殊类型腺癌。绝经后妇女较为多见,常伴有血清甲胎蛋白水平显著增高,病理形态特征类似于肝细胞癌,免疫组织化学甲胎蛋白、HepPar-1、Glypican3的表达对诊断有帮助。目前多数人认为HCO起源于卵巢表面上皮,多处取材有时可见混杂浆液性癌等其他腺癌成分。鉴别诊断包括肝样卵黄囊瘤、转移性肝细胞癌、支持间质肿瘤等。本例报道HCO中检测到CTNNB1基因突变(p.D32Y),TERT突变(启动子区C228T突变);其对HCO来源和潜在治疗靶点选择的作用,有待进一步研究。.
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  • 文章类型: Case Reports
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  • 文章类型: Journal Article
    目的:我们旨在评估miRNA-371a-3p对生殖细胞肿瘤(GCT)的初步诊断的敏感性和特异性,并探讨其与病理因素和临床分期的关系。
    方法:在这项前瞻性研究中,共有60例GCTs患者,40名健康男性对照在睾丸切除术前和手术后两周再次检测血清miRNA-371a-3p水平。miRNA-371a-3p,甲胎蛋白(AFP),术前、术后不同临床分期的β-人绒毛膜促性腺激素(bHCG)水平进行比较。进行受试者工作特征曲线分析以确定miRNA-371a-3p的灵敏度和特异性。临床和病理因素,如临床分期(CS),肿瘤大小,组织学,睾丸侵犯,和淋巴管浸润,可能影响miRNA-371a-3p表达水平(相对数量,RQ),进行了统计评估。
    结果:miR-371a-3p在GCT患者中的敏感性为98.3%,特异性为95%(AUC=0.997[95%Cl:0.99-1],p<.001)。在两名畸胎瘤患者中未检测到miR-371a-3p表达。GCT组miR-371a-3pRQ中位数为489倍,对照组为2.2倍(p<.001)。在术后期间,所有CS-1组的AFP和bHCG水平显著下降(p=.01),其他CS组的30%(p=3).在整个这段时间中,CS-1中的miR-371a-3pRQ降低了19倍(p<.001),而在其他CS中降低了1.6倍(p<.001)。miR-371a-3pRQs与肿瘤大小和CS相关。
    结论:miR-371a-3p在GCT中似乎比经典血清肿瘤标志物具有更高的诊断准确性。
    OBJECTIVE: We aimed to evaluate the diagnostic sensitivity and specificity of the miRNA-371a-3p for the primary diagnosis of germ cell tumors (GCT) and to investigate its relationship with pathological factors and clinical stage in the Turkish population.
    METHODS: In this prospective study, a total of 60 patients with GCTs, and 40 healthy male controls were examined for serum levels of miRNA-371a-3p before orchiectomy and again two weeks after surgery. The miRNA-371a-3p, alpha-fetoprotein (AFP), and beta-human chorionic gonadotropin (bHCG) levels in the preoperative and postoperative periods were compared at different clinical stages. Receiver operating characteristics curve analyses were performed to determine the sensitivity and specificity of miRNA-371a-3p. Clinical and pathological factors such as clinical stage (CS), tumor size, histology, rete testis invasion, and lymphovascular invasion, potentially impacting miRNA-371a-3p expression levels (relative quantity, RQ), were evaluated statistically.
    RESULTS: The sensitivity of miR-371a-3p in GCT patients was 98.3%, and the specificity was 95% (AUC = 0.997 [95%Cl:0.99-1], p < .001). miR-371a-3p expression was not detected in two patients with teratoma. The median miR-371a-3p RQ was 489 times in GCT and 2.2 times in the Control group (p < .001). In the postoperative period, there was a significant decrease in AFP and bHCG levels in all CS-1 (p = .01) and 30% of the other CS (p = .3). Throughout this time there was a decrease of 19 times at the miR-371a-3p RQ in CS-1(p < .001) and 1.6 times in the other CS (p < .001). The miR-371a-3p RQs were correlated with tumor size and CS.
    CONCLUSIONS: The miR-371a-3p seems to have higher diagnostic accuracy than classical serum tumor markers in GCT.
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  • 文章类型: Case Reports
    肝细胞癌(HCC)通常发生在肝硬化和慢性乙型肝炎或丙型肝炎病毒(HBV和HCV,分别)感染;在40岁以下的患者中极为罕见,因为病毒或酒精引起的慢性肝炎会长期发展。青少年肝癌主要与持续HBV感染有关;与HBV或HCV感染无关的病例(非B,非C青少年HCC)是散发性的,治疗方式与经典HCC相同。一名30多岁的女性在健康的肝脏中被诊断出患有HCC;她的影像学发现是典型的HCC骨转移。她接受了酪氨酸激酶抑制剂的联合治疗,免疫检查点抑制剂,血管内皮生长因子抑制剂.在整个化疗过程中,肝脏储备Child-Pugh分级为A级,肿瘤标志物仍处于控制状态,无明显升高.我们的患者是第一个报告的无法切除的非B的长期幸存者,非C青少年肝癌化疗治疗后。
    Hepatocellular carcinoma (HCC) usually occurs in settings of cirrhosis and chronic hepatitis B or C virus (HBV and HCV, respectively) infection; it is extremely rare in patients <40 years of age since viral- or alcohol-induced chronic hepatitis develops over a prolonged period. Juvenile HCC is mostly associated with persistent HBV infection; cases unrelated to HBV or HCV infection (non-B, non-C juvenile HCC) are sporadic and treated in the same way as classical HCC. A woman in her late 30s was diagnosed with HCC in a healthy liver; her imaging findings were typical of HCC with bone metastasis. She was administered a combination of tyrosine kinase inhibitors, immune checkpoint inhibitors, and vascular endothelial growth factor inhibitors. Throughout chemotherapy, the liver reserve was Grade A on the Child-Pugh classification and tumor markers remained under control without marked elevation. Our patient is the first reported long-term survivor of unresectable non-B, non-C juvenile HCC following chemotherapeutic treatment.
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  • 文章类型: Case Reports
    颅内生殖细胞肿瘤是罕见的脑肿瘤,根据其组织学和选定的肿瘤标志物进行区分。非生殖细胞生殖细胞肿瘤是具有最差预后的多种此类肿瘤。最常见的是,它们位于鞍上和松果体区。由于确切的治疗方案尚未确定,目前没有标准化的管理方式。我们介绍了一个18岁男性的颅内多灶性非生殖细胞肿瘤,以及相关文献综述。我们描述了患有复视和共济失调步态的年轻人的初始诊断和治疗程序。神经放射学发现和人绒毛膜促性腺激素肿瘤标志物的甲胎蛋白和β链升高表明可能是混合生殖细胞肿瘤。相应调整化疗方案,未进行活检。化疗开始后,患者的临床状况明显改善,甲胎蛋白值显着下降。总之,神经影像学的初步评估,肿瘤标志物,脑脊液细胞学检查对进一步治疗和预后有重要指导作用。在某些情况下,活检可能不适合开始辅助化疗。我们强调主要基于肿瘤标志物的特定治疗方式选择的重要性,无论精确的组织学分类。
    Intracranial germ cell tumors are rare brain tumors that are distinguished based on their histology and selected tumor markers. Non-germinomatous germ cell tumors are a diverse group of such tumors having the poorest prognosis. Most commonly, they are located in the suprasellar and pineal regions. Since the exact treatment protocol has not yet been established, there is currently no standardized modality of management. We present a case of intracranial multifocal non-germinomatous germ cell tumor in an 18-year-old male, along with relevant literature review. We describe initial diagnostic and treatment procedures in a young adult presented with diplopia and ataxic gait. Neuroradiological findings and elevated alpha fetoprotein and beta chain of the human chorionic gonadotropin tumor markers indicated the possible mixed germ cell tumor. Chemotherapy regimen was adjusted accordingly, biopsy was not performed. The patient\'s clinical condition improved significantly and his alpha fetoprotein values decreased remarkably after initiation of chemotherapy. In conclusion, initial evaluation with neuroimaging, tumor markers, and cytology from cerebrospinal fluid is important as guidance to further treatment and prognosis. In selected cases, biopsy may not be indicated to start adjuvant chemotherapy. We emphasize the importance of specific treatment modality selection based mainly on tumor markers, regardless of the precise histologic classification.
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    文章类型: Case Reports
    一名25岁男性于2013年接受姑息性全胃切除术加D1切除加Roux-en-Y重建治疗出血性胃癌伴左Virchow淋巴结转移。最终诊断为2型,pT4a(se),pap>tub2>肝样腺癌,pN3b,sM1,fStageⅣ.因为AFP高达11,000ng/mL,他被诊断为产生AFP的胃癌,并开始接受S-1+CDDP治疗。左肾上腺转移和#106pre,9个疗程后观察到#16b1int淋巴结转移,治疗改为伊立替康联合CDDP治疗。经过17门课程,患者被诊断为CR,停药了.悬吊8个月后CT证实左肾上腺复发和AFP升高,药物恢复了.经过8个课程的恢复,PET-CT显示纵隔和#16b1lat淋巴结转移,并改为每周PTX加Ram治疗。经过2门课程,观察到淋巴结肿大和AFP升高,并且改变了CapeOX疗法。21个疗程后PET-CT诊断左肾上腺转移瘤复发.使用了Nivolumab,局部放疗(共39Gy)。nivolumab持续3年后,影像学检查未发现复发转移,它被判定为CR,nivolumab被终止.截至2023年6月,他还活着,没有复发。在年轻人中产生AFP的胃癌很少见,无Virchow转移或主动脉旁淋巴结转移病例。我们报告了一例长期生存的病例,其中CR是通过联合治疗获得的。
    A 25-year-old male received palliative total gastrectomy plus D1 dissection plus Roux-en-Y reconstruction for hemorrhagic gastric cancer with left Virchow lymph node metastasis in 2013. The final diagnosis was Type 2, pT4a(se), pap>tub2 >hepatoid adenocarcinoma, pN3b, sM1, fStage Ⅳ. Because AFP was as high as 11,000 ng/mL, he was diagnosed with AFP-producing gastric cancer and started S-1 plus CDDP therapy. Left adrenal gland metastasis and #106pre, #16b1int lymph node metastasis were observed after 9 courses, and the therapy was changed to irinotecan plus CDDP therapy. After 17 courses, the patient was diagnosed with CR, and the drug was discontinued. Recurrence of the left adrenal gland and an increase in AFP were confirmed by CT after 8 months of suspension, and the drug was resumed. After 8 courses of resumption, PET-CT showed mediastinal and #16b1lat lymph node metastasis and changed to weekly PTX plus Ram therapy. After 2 courses, enlargement of lymph nodes and elevation of AFP was observed, and CapeOX therapy was changed. Diagnosis of left adrenal metastasis recurrence by PET-CT after 21 courses. Nivolumab was used, and radiotherapy(total 39 Gy)was performed locally. After the continuation of nivolumab for 3 years, no findings of recurrent metastasis were observed on imaging, and it was judged as CR, and nivolumab was terminated. As of June 2023, he is alive without recurrence. AFP-producing gastric cancer in the young is rare, and no cases with Virchow metastasis or para-aortic lymph node metastasis have been reported. We report a case of long-term survival in which CR was obtained with combined modality therapy.
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  • 文章类型: Journal Article
    背景:在2018年至2022年之间,尼日利亚经历了循环疫苗衍生的2型脊髓灰质炎病毒(cVDPV2)的连续传播,共检测到526例cVDPV2型脊髓灰质炎病例,在疫情应对活动中提供了约1.8亿剂单价2型口服脊髓灰质炎病毒疫苗(mOPV2)和4.5亿剂新型2型口服脊髓灰质炎病毒疫苗(nOPV2)。灭活脊髓灰质炎病毒疫苗(IPV)于2015年被引入常规免疫,2021年增加了第二剂。我们旨在评估nOPV2对cVDPV2麻痹的有效性,并将nOPV2的有效性与mOPV2和IPV的有效性进行比较。
    方法:在这项回顾性病例对照研究中,我们使用了尼日利亚2017年1月1日至2022年12月31日的急性弛缓性麻痹(AFP)监测数据,使用年龄匹配的,发病匹配,和位置匹配的cVDPV2阴性AFP病例作为测试阴性对照。我们还从3月份开始做了一项平行的前瞻性研究,2021年,使用与案例相同的解决方案中的年龄匹配社区控制。我们包括五月以后出生的孩子,2016年,小于60个月,报告了脊髓灰质炎免疫史(来自运动和IPV的OPV剂量)。我们使用条件性逻辑回归估计了nOPV2对cVDPV2麻痹的每剂量有效性,并将nOPV2的有效性与mOPV2和IPV的有效性进行了比较。
    结果:在回顾性病例对照研究中,我们在2017年1月1日至2022年12月31日期间,在尼日利亚确定了509例cVDPV2脊髓灰质炎病例,并进行了病例验证和瘫痪发作.其中,82名儿童因不符合纳入标准而被排除在外,427例合格病例中的363例(85%)与1303例测试阴性对照相匹配.病例报告的OPV和IPV剂量少于测试阴性对照(病例中OPV剂量的平均数量为5·9[SD4·2],对照组为6·7[4·3];363例病例中的95例[26%]比1303例对照中的[39%]报告的一个或多个IPV剂量)。我们发现nOPV2的每剂量有效性较低(12%,95%CI-2至25)和mOPV2(17%,3至29),但两种疫苗之间没有显着差异(p=0·67)。一次IPV剂量的估计有效性为43%(23至58)。在前瞻性研究中,392例合格病例中的181例(46%)与1557例社区对照匹配。使用社区控件,我们发现IPV的有效性很高(89%,95%CI83至93,一次剂量),nOPV2的低每剂量有效性(-23%,-45到-5)和mOPV2(1%,-23至20),nOPV2和mOPV2的每剂量有效性之间没有显着差异(p=0·12)。
    结论:我们发现两种口服疫苗的估计有效性没有显着差异,支持在cVDPV2暴发响应中应首选基因更稳定的nOPV2的建议。我们的发现强调了IPV的作用和加强常规免疫的必要性,IPV交付的主要途径。
    背景:比尔和梅琳达·盖茨基金会和英国医学研究委员会。
    BACKGROUND: Between 2018 and 2022, Nigeria experienced continuous transmission of circulating vaccine-derived type 2 poliovirus (cVDPV2), with 526 cases of cVDPV2 poliomyelitis detected in total and approximately 180 million doses of monovalent type 2 oral poliovirus vaccine (mOPV2) and 450 million doses of novel type 2 oral poliovirus vaccine (nOPV2) delivered in outbreak response campaigns. Inactivated poliovirus vaccine (IPV) was introduced into routine immunisation in 2015, with a second dose added in 2021. We aimed to estimate the effectiveness of nOPV2 against cVDPV2 paralysis and compare nOPV2 effectiveness with that of mOPV2 and IPV.
    METHODS: In this retrospective case-control study, we used acute flaccid paralysis (AFP) surveillance data in Nigeria from Jan 1, 2017, to Dec 31, 2022, using age-matched, onset-matched, and location-matched cVDPV2-negative AFP cases as test-negative controls. We also did a parallel prospective study from March, 2021, using age-matched community controls from the same settlement as the cases. We included children born after May, 2016, younger than 60 months, for whom polio immunisation history (doses of OPV from campaigns and IPV) was reported. We estimated the per-dose effectiveness of nOPV2 against cVDPV2 paralysis using conditional logistic regression and compared nOPV2 effectiveness with that of mOPV2 and IPV.
    RESULTS: In the retrospective case-control study, we identified 509 cVDPV2 poliomyelitis cases in Nigeria with case verification and paralysis onset between Jan 1, 2017, and Dec 31, 2022. Of these, 82 children were excluded for not meeting inclusion criteria, and 363 (85%) of 427 eligible cases were matched to 1303 test-negative controls. Cases reported fewer OPV and IPV doses than test-negative controls (mean number of OPV doses 5·9 [SD 4·2] in cases vs 6·7 [4·3] in controls; one or more IPV doses reported in 95 [26%] of 363 cases vs 513 [39%] of 1303 controls). We found low per-dose effectiveness of nOPV2 (12%, 95% CI -2 to 25) and mOPV2 (17%, 3 to 29), but no significant difference between the two vaccines (p=0·67). The estimated effectiveness of one IPV dose was 43% (23 to 58). In the prospective study, 181 (46%) of 392 eligible cases were matched to 1557 community controls. Using community controls, we found a high effectiveness of IPV (89%, 95% CI 83 to 93, for one dose), a low per-dose effectiveness of nOPV2 (-23%, -45 to -5) and mOPV2 (1%, -23 to 20), and no significant difference between the per-dose effectiveness of nOPV2 and mOPV2 (p=0·12).
    CONCLUSIONS: We found no significant difference in estimated effectiveness of the two oral vaccines, supporting the recommendation that the more genetically stable nOPV2 should be preferred in cVDPV2 outbreak response. Our findings highlight the role of IPV and the necessity of strengthening routine immunisation, the primary route through which IPV is delivered.
    BACKGROUND: Bill & Melinda Gates Foundation and UK Medical Research Council.
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  • 文章类型: Case Reports
    One case with ascites and lower limb edema as the initial manifestations was reported.The echocardiography revealed inferior vena cava and right atrial occupation,which combined with increased alpha fetoprotein and imaging examination,suggested liver malignant tumor combined with tumor thrombus of inferior vena cava and right atrium.After targeted therapy combined with immunotherapy,the tumor shrank and alpha fetoprotein decreased significantly,suggesting that the treatment was effective.The median survival time of the patient was 3 months.This patient had a clear history of cirrhosis due to hepatitis B and was clinically diagnosed with advanced liver cancer,which suggested the importance of early liver cancer screening.
    本文报道1例以腹水及双下肢水肿为首发表现,经超声心动图发现下腔静脉及右心房占位,结合甲胎蛋白明显升高、影像学检查临床诊断肝癌合并下腔静脉及右心房癌栓,应用靶向治疗联合免疫治疗后肿瘤有所缩小,甲胎蛋白明显降低,提示靶向治疗联合免疫治疗有效。本例患者中位生存时间3个月,有明确的乙肝肝硬化病史,临床诊断肝癌已经晚期,提示进行早期肝癌筛查的重要性。.
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  • 文章类型: Review
    背景:肝样腺癌(HAC)在泌尿系统中很少见,上尿路仅报告7例。本报告旨在首次探讨输尿管HAC的遗传特征。并描述输尿管HAC的治疗预后。
    方法:我们介绍了一例罕见的53岁女性输尿管HAC病例,显示血清AFP和CEA水平升高,长期的慢性刺激可能是她的输尿管HAC的重要原因。行根治性肾输尿管切除术,血清AFP和CEA水平明显下降,术后9个月发现淋巴结转移,术后18个月未进行辅助化疗,患者无相关症状.通过NGS测试确定了癌症中的三个驱动体细胞突变,包括:TP53D281H,KMT2DL1211Ifs*2,KMT2DT1843Nfs*5,表明输尿管HAC具有与上尿路尿路上皮癌相似的突变特征。同源重组缺陷(HRD)在该肿瘤中呈阳性,HRD相关基因无突变,这可能是由SETD2基因的拷贝数缺失引起的。
    结论:我们报告了一例罕见的输尿管HAC患者血清AFP和CEA水平升高。NGS测试表明,输尿管HAC具有与上尿路上皮癌相似的突变特征,是输尿管HAC诊断和治疗的重要指南。
    Hepatoid adenocarcinoma (HAC) is rare in the urinary system, with only 7 reported cases in upper urinary tract. This report aimed to explore the genetic characteristics of ureteral HAC for first time, and to describe the treatment prognosis of ureteral HAC.
    We present a rare case of ureteral HAC in a 53-year-old female, showing elevated serum levels of AFP and CEA, prolonged chronic irritation may be an important cause of her ureteral HAC. Radical nephroureterectomy was performed, the serum levels of AFP and CEA decreased significantly, and metastasis in lymph nodes was found at 9 months after surgery, she had no related symptoms after 18 months postoperatively without adjuvant chemotherapy. Three driver somatic mutations in cancer were identified by NGS testing, including: TP53D281H, KMT2DL1211Ifs*2, KMT2DT1843Nfs*5, demonstrating that ureteral HAC has the similar mutational features to upper tract urothelial carcinoma. Homologous-recombination deficiency (HRD) was positive in this tumor with no mutations in HRD-related genes, which was possibly induced by the copy number deletion of SETD2 gene.
    We report a rare case of ureteral HAC with elevated serum levels of AFP and CEA. NGS testing demonstrated that ureteral HAC has the similar mutational features to upper tract urothelial carcinoma, which is an important guide for the diagnosis and treatment of ureteral HAC.
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