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Pseudotumor of the Infratemporal Fossa Complicated with Orbital Apex Syndromes. 颞下窝假性肿瘤合并眶尖综合征。
Q3 Medicine Pub Date : 2022-01-01
Nik Mohd Syahrul Hafizzi Awang, Rosli Mohd Noor, Rosdi Ramli, Baharudin Abdullah

Background: The infratemporal fossa poses a great challenge to surgeons due to its complex anatomy and communications to many surrounding areas. The disorders that arise from this area can be infections and neoplasms. They can cause varieties of complications due to the extension of the pathologies and compression effect to the other adjacent structures. Inflammatory pseudotumor of the infratemporal fossa is one of the rare disorders of the head and neck.

Case presentation: We report a patient with a pseudotumor of infratemporal fossa that extends to the orbital area and cavernous sinus, causing orbital apex syndromes. The diagnostic imaging, different surgical approaches of the biopsy and methods of treatment of this case are discussed.

Discussion and conclusion: Radiological imaging and immunohistopathology are essential in establishing the diagnosis and determine the complications. The surgeons must well understand the characteristics and the impact of the disorders on the adjacent structure and give prompt decision to provide definitive treatments.

背景:颞下窝由于其复杂的解剖结构和与周围许多区域的交通,对外科医生提出了很大的挑战。从这个区域产生的疾病可能是感染和肿瘤。由于病变的扩展和对其他邻近结构的压迫作用,它们可引起各种并发症。摘要颞下窝炎性假肿瘤是一种罕见的头颈部疾病。病例介绍:我们报告一例颞下窝假性肿瘤延伸至眶区和海绵窦,引起眶尖综合征的患者。本文讨论了本病例的诊断影像、活检的不同手术入路及治疗方法。讨论与结论:影像学检查和免疫组织病理学检查对诊断和确定并发症至关重要。外科医生必须很好地了解特征和疾病对邻近结构的影响,并及时作出决定,提供明确的治疗。
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引用次数: 0
Immunohistochemical Analysis Of Novel Biomarkers Cyclin D1, p53 And Ki67 In Endometrial Carcinoma: Clinicopathological Significance And Prognostic Value. 子宫内膜癌中新型生物标志物Cyclin D1、p53和Ki67的免疫组化分析:临床病理意义和预后价值。
Q3 Medicine Pub Date : 2022-01-01
Manisha A Atram, V B Shivkumar, Nitin M Gangane

Background: Endometrial carcinoma (EC) is the only gynecologic cancer with increasing incidence and mortality worldwide. This study aimed to determine association of cell proliferation marker CyclinD1, p53 and Ki67 with clinicopathological parameters and survival analysis in patients of EC.

Material and methods: One hundred twenty-four histological confirmed cases of EC treated at our institute were included in this study. The appropriate tissue blocks of cases which were retrieved from 2010 to 2015. The study period was from Jan 2018 to Jan 2020. Data pertaining to patient's clinical details, histopathological diagnosis, treatment and follow up was retrieved from Hospital information System. Immunohistochemical evaluation of Cyclin D1, p53 and Ki67 was done. Overall survival and Disease-free survival for each category were analyzed by the Kaplan-Meier method.

Results: Of the 124 cases of EC, 108(87.09%) cases were of type I and 16 (12.89%) cases of type II. Overall positive staining of cyclinD1, p53 and Ki67 were noted in 53.22%, 42.22% and 32.3% cases respectively. The clinicopathological parameters affecting disease-free survival were age (p=0.039) histological types (p=0.007), and FIGO stage (p< 0.001). Elevated Ki67 index and p53 overexpression was associated with type II morphology (p= 0.001). Whereas Cyclin D1 expression was associated with type I morphology and poorly differentiated tumor.

Conclusion: Cyclin D1 positive staining, p53overexpression and an elevated Ki-67index all had an independent prognostic significance in endometrial cancer. This panel of biomarkers may help to differentiate tumor behavior, and necessity for more radical surgery and post- operative chemotherapy. Key words: Endometrial carcinoma; cyclin D1; p53; Ki67; Survival analysis.

背景:子宫内膜癌(EC)是世界范围内唯一一种发病率和死亡率都在上升的妇科肿瘤。本研究旨在探讨细胞增殖标志物CyclinD1、p53和Ki67与EC患者临床病理参数和生存分析的关系。材料和方法:本研究纳入我院治疗的124例组织学确诊的EC病例。2010 ~ 2015年检索病例的合适组织块。研究时间为2018年1月至2020年1月。患者的临床细节、组织病理学诊断、治疗和随访数据从医院信息系统中检索。免疫组化检测细胞周期蛋白D1、p53、Ki67。用Kaplan-Meier法分析每一类患者的总生存期和无病生存期。结果:124例EC中,ⅰ型108例(87.09%),ⅱ型16例(12.89%)。cyclinD1、p53、Ki67整体阳性分别为53.22%、42.22%、32.3%。影响无病生存的临床病理参数为年龄(p=0.039)、组织学类型(p=0.007)、FIGO分期(p< 0.001)。Ki67指数升高和p53过表达与II型形态学相关(p= 0.001)。而Cyclin D1的表达与I型形态和低分化肿瘤相关。结论:Cyclin D1阳性、p53过表达、ki -67指数升高在子宫内膜癌中具有独立的预后意义。这组生物标志物可能有助于区分肿瘤的行为,以及是否需要更多的根治性手术和术后化疗。关键词:子宫内膜癌;细胞周期蛋白D1;p53;Ki67;生存分析。
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引用次数: 0
Uterine Perivascular Epithelioid Cell Tumor (PEComa) in A 56-year-Old Woman. 56岁女性子宫血管周围上皮样细胞瘤。
Q3 Medicine Pub Date : 2022-01-01
Ala Aljehani, Ahmed Abu-Zaid, Mohamed Ismail Albadawi, Osama Alomar, Abdulmohsen Alkushi

Perivascular epithelioid cell tumors (PEComas) are infrequent mesenchymal neoplasms. Primary uterine PEComas are extremely uncommon. To the best of knowledge, around 110 cases of uterine PEComas have been documented in the English-language literature thus far. Herein, we present the case of primary uterine PEComa in a 56-year-old Saudi woman who presented to clinical attention with a six-month history of left-sided abdominal pain. Gynecological examination showed a 5-cm solid mass involving the left adnexa. Tumor markers were normal. Computed tomography scan demonstrated a 4.2 x 4.4 x 3.4 cm superior left fundal exophytic mass. Patient underwent total abdominal hysterectomy plus bilateral salpingo-oophorectomy. Final histopathological examination demonstrated benign/uncertain malignant potential PEComa. No further adjuvant therapy was administered. At six-month follow up, the patient was asymptomatic without recurrence. In conclusion, uterine PEComas are rare. Histopathological assessment establishes the definitive diagnosis. Surgery remains the gold standard in the treatment of uterine PEComas and adjuvant therapy should be guided based on clinical and histopathological risk factors. Keywords: Uterine perivascular epithelioid cell tumor; PEComa; Uterine sarcoma; hysterectomy.

血管周围上皮样细胞瘤(PEComas)是一种少见的间质肿瘤。原发性子宫肌瘤极为罕见。据我所知,到目前为止,在英语文献中已经记录了大约110例子宫PEComas。在此,我们提出的情况下,原发性子宫PEComa在一个56岁的沙特妇女谁提出了临床关注与六个月的历史,左侧腹痛。妇科检查显示一个5厘米的实性肿块累及左附件。肿瘤标志物正常。计算机断层扫描显示一个4.2 x 4.4 x 3.4 cm的左侧基底上部外生性肿块。患者行腹部全子宫切除术加双侧输卵管卵巢切除术。最终的组织病理学检查显示良性/不确定的恶性潜在PEComa。没有进一步的辅助治疗。随访6个月,患者无症状,无复发。总之,子宫PEComas是罕见的。组织病理学评估确定了明确的诊断。手术仍然是治疗子宫肌瘤的金标准,辅助治疗应根据临床和组织病理学危险因素进行指导。关键词:子宫血管周围上皮样细胞瘤;PEComa;子宫肉瘤;子宫切除术。
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引用次数: 0
Intracranial Meningiomas Developed after Traditional Scalp Thermal Cautery Treatment in Childhood: Clinical Reports and Gene Expression Analysis. 儿童传统头皮热烧灼治疗后发生颅内脑膜瘤:临床报告和基因表达分析。
Q3 Medicine Pub Date : 2022-01-01
Ashwag Alqurashi, Saleh Baeesa, Maher Kurdi, Deema Hussein, Hans -Juergen Schulten

Background: Human skin cautery, a traditional thermal therapy, is traced back to Hippocrates beyond the 5th century. Those ancient healers used this method to control bleeding and infection and remove cancerous tumors. Such traditional procedure is still in practice in several regions of Asia and Africa to treat certain conditions. There is a lack of reports in the literature regarding the long-term complication and the possible tumorigenesis following traditional treatment with thermal cauterization. Here, we report two patients with intracranial meningiomas and investigate the gene expression profile for a patient. Cases presentations: We report two adult patients who presented with a headache and hemiparesis over six months. Brain magnetic resonance imaging (MRI) scans of both patients revealed intracranial meningiomas. During preoperative preparation of the patients, cautery marks were noticed over the scalp region above the intracranial tumors site, which was performed during childhood. The patients underwent uneventful resection of meningiomas with no local recurrence over a 5-year follow up. In addition, we performed a biofunctional genetic microarray expression analysis on the affected meningioma.

Conclusion: There is a lack of evidence-based scientific reports in the literature regarding the long-term complications and tumorigenesis following aggressive treatment with thermal cauterization. Herein, we report the first possible association between previous scalp traditional cautery and the development meningioma in two patients and discuss a proposed causal relationship. However, further advanced studies and research should be done to support, or reject, our hypothesis.

背景:人体皮肤烧灼是一种传统的热疗法,可以追溯到5世纪以后的希波克拉底。那些古代的治疗师用这种方法来控制出血和感染,并去除癌性肿瘤。在亚洲和非洲的一些地区,这种传统的治疗方法仍在实践中。文献中缺乏关于传统热烧灼治疗的长期并发症和可能的肿瘤发生的报道。在这里,我们报告了两例颅内脑膜瘤患者,并研究了一名患者的基因表达谱。病例介绍:我们报告了两名成年患者,他们表现为头痛和偏瘫超过6个月。脑磁共振成像(MRI)扫描显示颅内脑膜瘤。在患者术前准备时,在颅内肿瘤部位上方的头皮区域发现烧灼痕,这是在儿童时期进行的。在5年的随访中,患者顺利切除了脑膜瘤,没有局部复发。此外,我们对受影响的脑膜瘤进行了生物功能基因微阵列表达分析。结论:文献中缺乏关于积极热烧灼治疗后长期并发症和肿瘤发生的循证科学报道。在此,我们首次报道了两例患者头皮传统烧灼与脑膜瘤发展之间的可能联系,并讨论了提出的因果关系。然而,还需要进一步的研究来支持或否定我们的假设。
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引用次数: 0
Cytoreductive Surgery And Hyperthermic Intraperitoneal Chemotherapy For Recurrent Ovarian Cancer: The First Reported Experience From Saudi Arabia. 细胞减少手术和腹腔内高温化疗治疗复发性卵巢癌:沙特阿拉伯首次报道的经验。
Q3 Medicine Pub Date : 2021-09-01
Ahmed Abu Zaid, Osama Alomar, Ahmed Nazer, Hany Salem, Tarek Amin, Ismail A AlBadawi

Objectives: To report our pilot experience (feasibility, morbidity and postoperative outcomes) of cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) for the treatment of patients with recurrent ovarian cancer and peritoneal carcinomatosis.

Methods: Thirty nine patients were retrospectively analyzed for perioperative details.

Results: The vast majority of patients had platinumsensitive disease (69.2%). Complete (CC-0) and incomplete (CC-1/2) resections were achieved in 24 (61.5%) and 15 (38.5%) patients, respectively. The median peritoneal cancer index (PCI) was 14 (range: 2-28). Cisplatin (50 mg/m2) and doxorubicin (15 mg/m2) was the most frequently used HIPEC regimen (87.2%). No intraoperative morbidity/mortality happened. A total of eight patients developed III-IV postoperative complications (20.5%). Median follow-up time was 41 months (range:3-106). No 60 day readmission/mortality happened. At the last date of follow-up, there were 13 patients who were alive without disease (33.4%); mortality occurred in 10 patients (25.6%). For all patients, the mean diseasefree survival (DFS) and overall survival (OS) were 46.3 months (95% CI: 33.7-58.9) and 81 months (95% CI: 68.6-93.3) respectively. PCI >14 was correlated with statistically significant poor DFS and OS at univariate analysis (p=0.046). When compared to CC-0, CC-1/2 was correlated with poor DFS and OS, however, without statistical significance. Cox multivariate analyses of DFS and OS failed to demonstrate PCI score, CC score and platinum-sensitivity as independent prognosticfactors of DFS and OS.

Conclusions: Our study demonstrated the feasibility, safety and favorable clinical outcomes of CRS and HIPEC in patients with recurrent ovarian cancer and peritonealcarcinomatosis.

目的:报告细胞减少手术(CRS)和腹腔热化疗(HIPEC)治疗复发性卵巢癌和腹膜癌患者的试点经验(可行性、发病率和术后结果)。方法:回顾性分析39例患者的围手术期细节。结果:绝大多数患者为铂敏感性疾病(69.2%)。完全切除(CC-0)和不完全切除(CC-1/2)的患者分别为24例(61.5%)和15例(38.5%)。腹膜癌中位指数(PCI)为14(范围2-28)。顺铂(50 mg/m2)和阿霉素(15 mg/m2)是最常用的HIPEC方案(87.2%)。术中无发病/死亡发生。术后出现III-IV期并发症8例(20.5%)。中位随访时间为41个月(范围:3-106)。无60天再入院/死亡发生。截至最后随访日,有13例患者存活,无疾病(33.4%);死亡10例(25.6%)。所有患者的平均无病生存期(DFS)和总生存期(OS)分别为46.3个月(95% CI: 33.7-58.9)和81个月(95% CI: 68.6-93.3)。单因素分析显示,PCI >14与较差的DFS和OS有统计学意义(p=0.046)。与CC-0相比,CC-1/2与较差的DFS和OS相关,但无统计学意义。DFS和OS的Cox多因素分析未能证明PCI评分、CC评分和铂敏感性是DFS和OS的独立预后因素。结论:我们的研究证明了CRS和HIPEC在复发性卵巢癌和腹膜癌患者中的可行性、安全性和良好的临床效果。
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引用次数: 0
Compliance with Oral Hormonal Therapy for Breast Cancer at Oman National Oncology Center; Descriptive Study. 阿曼国家肿瘤中心乳腺癌口服激素治疗的依从性描述性研究。
Q3 Medicine Pub Date : 2021-09-01
Suad Al Kharusi, Bahaaeldin Baraka, Laila Al Balushi, Mahmoud Nassar

Introduction: Breast cancer is the commonest cancer amongst females. The incidence of breast cancer is estimated to be around 260K yearly. Oral hormonal medication is an essential part of the management of breast cancer for hormone receptor-positive patients. Adjuvant hormonal medication is recommended to be taken daily for 5-10 years. Adjuvant hormonal medication reduces mortality by 30% and the recurrence rate in receptor-positive patients.

Patients and methods: This study's primary goal is to evaluate the rate of nonadherence to Endocrine Therapy for hormone receptor-positive breast cancer patients at Oman National Oncology Center. This study included patients taking hormonal therapy (either with Tamoxifen or Aromatase inhibitor) and presented for regular followup between June 2019 and February 2020 at the National oncology center, Oman. Data was collected using a written questionnaire. Descriptive analysis was done by using SPSS. A cross-sectional descriptive study for patients taking oral hormonal therapy. 131 patients were included.

Results: One hundred thirty-one patients were included, Tamoxifen was used by 73 (55.73%). 71 (54%) of breast surgery was "WLE" The majority of patients 95 (72.5%) did not identify a specific reason for non-compliance. The most commonly reported adverse effects were musculoskeletal symptoms by 75 patients (57.3%), with other reported side effects included hot flashes (33.6%), anxiety (30.5%), gynecological toxicity (29.8%), decreased concentration (19.1%), neurological symptoms (16%), and depression (9.9%).

Discussion: We reported that patients with hormone receptor-positive breast cancer have a high adherence rate to the medication than developing countries; selfreported non-compliance to oral hormonal medication is 41.22% below the average of non-compliance to chronic disease therapy of developing countries as WHO report. Medical insurance, unemployment, or drug cost is not a cause for non-compliance to medication.

Conclusion: The self-reported nonadherence to oral hormonal medication is (41,22%). Most of the patients (72.5%) did not report a specific cause for non-adherent to medication. Close follow-up is recommended increasing compliance to medication.

乳腺癌是女性中最常见的癌症。据估计,乳腺癌的发病率约为每年26万例。口服激素药物治疗是激素受体阳性乳腺癌患者治疗的重要组成部分。辅助激素药物建议每天服用5-10年。辅助激素治疗可降低受体阳性患者30%的死亡率和复发率。患者和方法:本研究的主要目的是评估阿曼国家肿瘤中心激素受体阳性乳腺癌患者的内分泌治疗不依从率。该研究包括接受激素治疗(他莫昔芬或芳香酶抑制剂)的患者,并于2019年6月至2020年2月在阿曼国家肿瘤中心进行定期随访。使用书面问卷收集数据。采用SPSS进行描述性分析。口服激素治疗患者的横断面描述性研究。纳入131例患者。结果:纳入131例患者,使用他莫昔芬73例(55.73%)。71例(54%)的乳房手术是“WLE”,大多数患者95例(72.5%)没有明确不遵守的具体原因。最常见的不良反应是75例(57.3%)患者的肌肉骨骼症状,其他报告的副作用包括潮热(33.6%)、焦虑(30.5%)、妇科毒性(29.8%)、注意力下降(19.1%)、神经系统症状(16%)和抑郁(9.9%)。讨论:我们报道了激素受体阳性乳腺癌患者的药物依从率比发展中国家高;据世卫组织报告,自我报告不遵守口服激素药物治疗的情况比发展中国家不遵守慢性病治疗的平均情况低41.22%。医疗保险、失业或药费不是不遵守药物治疗的原因。结论:自我报告的口服激素药物不依从率为(41.22%)。大多数患者(72.5%)没有报告药物不依从的具体原因。建议密切随访以增加对药物的依从性。
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引用次数: 0
Cardiovascular Toxicity Associated With Tyrosine Kinase Inhibitor Therapy In Chronic Myeloid Leukemia. 慢性髓系白血病与酪氨酸激酶抑制剂治疗相关的心血管毒性。
Q3 Medicine Pub Date : 2021-09-01
Abdulaziz A Binzaid, Omar J Baqal, Mohammed Soheib, Mohammad Al Nahedh, Hadeel H Samarkandi, Mahmoud Aljurf

Treatment of Chronic myeloid leukemia (CML) typically entails a long-term course of tyrosine kinase inhibitors (TKI) therapy. This review provides a summary on the cardiotoxic effects of TKIs. Five small molecular TKIs were evaluated in our review. The cardiotoxic effects of TKIs can range from superficial edema to potentially fatal conditions such as congestive heart failure (HF) and acute coronary syndrome (ACS). With the constant introduction of newer generations of TKIs, it has been demonstrated that different TKIs have distinct cardiovascular safety profiles. Amongst which, the first-generation TKI - imatinib appears to have the safest profile, mainly causing edema along with nausea, rash and muscle cramps. Other TKIs, like the second-generation dasatinib, bosutinib,and nilotinib, have shown an increased incidence of pleural effusion and QT prolongation. Ponatinib, a third generation TKI, has shown a relatively high incidence of serious adverse effects including thrombotic vascular occlusion and heart failure, particularly in patients with a prior history of cardiovascular impairment. Therefore, it is advisable that at-risk patients taking TKIs be screened with an Electrocardiogram (ECG) and have a careful cardiovascular risk assessment before starting TKI therapy to avoid potential cardiotoxic effects such as arrhythmias, acute coronary syndrome (ACS), congestive heart failure, and pleural effusion. Keywords: tyrosine kinase inhibitor, TKI, chronic myelogenous leukemia, CML, cardiotoxicity, side effects, imatinib, dasatinib, bosutinib, nilotinib, ponatinib.

慢性髓性白血病(CML)的治疗通常需要长期的酪氨酸激酶抑制剂(TKI)治疗。本文综述了TKIs的心脏毒性作用。在我们的综述中评估了五种小分子TKIs。tki的心脏毒性作用范围从浅表水肿到潜在的致命疾病,如充血性心力衰竭(HF)和急性冠状动脉综合征(ACS)。随着新一代tki的不断引入,已经证明不同的tki具有不同的心血管安全性。其中,第一代TKI -伊马替尼似乎是最安全的,主要引起水肿以及恶心、皮疹和肌肉痉挛。其他TKIs,如第二代达沙替尼、博舒替尼和尼洛替尼,显示出胸膜积液和QT间期延长的发生率增加。Ponatinib是第三代TKI,已显示出相对较高的严重不良反应发生率,包括血栓性血管闭塞和心力衰竭,特别是对既往有心血管损害史的患者。因此,建议高危患者在开始TKI治疗前进行心电图筛查,并仔细评估心血管风险,以避免潜在的心脏毒性作用,如心律失常、急性冠状动脉综合征、充血性心力衰竭和胸腔积液。关键词:酪氨酸激酶抑制剂,TKI,慢性髓性白血病,CML,心脏毒性,副作用,伊马替尼,达沙替尼,博舒替尼,尼洛替尼,波纳替尼。
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引用次数: 0
Mutation Profiling of Intracranial Myxopapillary Ependymoma by Next Generation DNA Sequencing. 应用下一代DNA测序分析颅内黏液乳头状室管膜瘤的突变谱。
Q3 Medicine Pub Date : 2021-09-01
Mohiuddin M Taher, Abdulaziz Abdulnasser Alhussini, Muhammad Saeed, Mohammad Athar, Najwa Abdalkabeer A Bantan, Raid A Jastania, Kamal Bakour Balkhoyour, Tahani H Nageeti

Objectives: Primary intracranial myxopapillary ependymomas (MPE) are very rare. In order to determine genomic changes in an intracranial MPE, we analyzed its mutation patterns by next generation DNA sequencing.

Methods: Tumor DNA was sequenced using an Ion PI v3 chip on Ion Proton instrument and the data were analyzed by Ion Reporter 5.6.

Results: In this tumor, NGS generated 6,298, 354 mapped reads using the Ion PI v3 Chip. The average reads per amplicon was 29,365, 100% of amplicons had at least 500 reads and the amplicons read end-to-end were 97.58%. In this tumor, NGS data analysis identified 12 variants, of which two were missense mutations, seven were synonymous mutations and three were intronic variants. Missense mutation in c.395G>A; in exon 4 of the IDH1 gene, and a missense mutation in c.215C>G; in exon 4 of the TP53 gene were found in this tumor were previously reported. The known synonymous mutations were found in this tumor were, in exon 14 of FGFR3 in c.1953G>A; in exon 12 of PDGFRA in c.1701A>G; in exon 18 of PDGFRA c.2472C>T; in exon 20 of EGFR in c.2361G>A; in exon 13 of RET in c.2307G>T; in exon 16 of APC in c.4479G>A; and in exon 2 of MET in c.534C>T. Additionally, a known intronic variant was identified in KDR and a known acceptor site splice variant in FLT3 (rs2491231) and a SNP in the 3 ' -UTR of the CSF1R gene (rs2066934) were also identified. Except, the frequency of IDH1 variant, the frequencies of other variants were high, and the p-values were significant and Phred scores were high for all of these mutations.

Conclusions: The variants reported in this tumor have not been detected in myxopapillary grade I ependymoma tumor by NGS analysis previously and we therefore report these variants in this case for the first time.

目的:原发性颅内黏液乳头状室管膜瘤(MPE)非常罕见。为了确定颅内MPE的基因组变化,我们通过下一代DNA测序分析了其突变模式。方法:采用离子质子仪上的Ion PI v3芯片对肿瘤DNA进行测序,并用Ion Reporter 5.6软件对数据进行分析。结果:在该肿瘤中,NGS使用Ion PI v3芯片生成了6,298,354个映射reads。每个扩增子的平均读取数为29365,100%的扩增子至少有500个读取,端到端读取的扩增子为97.58%。在该肿瘤中,NGS数据分析鉴定出12个变异,其中2个是错义突变,7个是同义突变,3个是内含子变异。c.395G>A错义突变;IDH1基因外显子4,c.215C>G错义突变;在TP53基因外显子4中发现的TP53基因外显子中发现的TP53基因外显子。在该肿瘤中发现的已知同义突变为:c.1953G>A中FGFR3的外显子14;c.1701A>G的PDGFRA外显子12;PDGFRA第18外显子c.2472C>T;c.2361G>A的EGFR外显子20;c.2307G>T的RET外显子13;c.4479G>A的APC外显子16;c.534C>T的MET外显子2。此外,在KDR中发现了一个已知的内含子变异,在FLT3中发现了一个已知的受体位点剪接变异(rs2491231),并在CSF1R基因的3 ' -UTR中发现了一个SNP (rs2066934)。除IDH1变异频率外,其他变异频率均较高,且p值显著,Phred评分均较高。结论:该肿瘤中报告的变异未在黏液乳头状瘤I级室管膜瘤中通过NGS分析检测到,因此我们首次在该病例中报告了这些变异。
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引用次数: 0
Correlation Between Tumor Infiltration CD8+ T-cells And PD-L1 Expression In Laryngeal Cancer And Their Prognostic Significance: Prospective Non-interventional Trial. 喉癌肿瘤浸润CD8+ t细胞与PD-L1表达的相关性及其预后意义:前瞻性非介入性试验
Q3 Medicine Pub Date : 2021-09-01
Maha Ismail, Marwa M Shakweer, Hesham ElWakiel, Dalia Abd El Ghany, Ahmed Gaballah

Introduction: Tumor microenvironment plays crucial role in cancer evolution. There is a dynamic and continuous relation between immune cells and cancer cells' resistance. Tumor infiltration CD8-lymphocytes and programmed death ligand-1 have proved important prognostic role in different malignancies. We aimed at evaluating this role in laryngeal cancer.

Patients and methods: We prospectively analyzed laryngeal cancer patients' specimens, to identify the CD8-lymphocytes and the PD-L1 expression. A total score formed of the sum of percentage and intensity of PD-L1. A final rate was considered as negative or low when combined percentage and intensity scores 0 to 4, and high when scores 5-7. CD8-lymphocyte infiltration was divided into strong (= 10/100 of epithelial cells or =20/100 stromal cell infiltration) or weak (<10/100 epithelial cells or <20/100 stromal cell infiltration).

Results: Forty patients were included; twelve had stage 1 or 2 and 28 with advanced stages. PD-L1 expressionwas positive in 92.5%. Neither the PD-L1 nor CD8- lymphocytes had overall survival impact, however high PD-L1 correlated with better survival in advanced stage subgroup (p = 0.036), high CD8-lymphocytes infiltration had better survival but did not reach significance. Therewas significant correlation between the CD8-lymphocyte infiltration; whether epithelial or stromal, and tumor PD-L1 expression; p-value of 0.001 and < 0.0001 respectively. Subgroup of patients with low CD8+ infiltration and low PD-L1 had the worst survival.

Conclusion: There is a correlation between CD8- l lymphocytes infiltration and PD-L1 expression inlaryngeal cancer and high PD-L1 expression is associated with better OS in advanced stages. Key words: PD-L1, CD8, laryngeal cancer, tumor microenvironment.

肿瘤微环境在肿瘤进化过程中起着至关重要的作用。免疫细胞与癌细胞的抵抗之间存在着动态的、持续的关系。肿瘤浸润cd8 -淋巴细胞和程序性死亡配体-1在不同恶性肿瘤中具有重要的预后作用。我们的目的是评估其在喉癌中的作用。患者和方法:我们前瞻性分析喉癌患者标本,鉴定cd8淋巴细胞和PD-L1的表达。PD-L1的百分比和强度之和构成总分。当综合百分比和强度得分为0到4分时,最终比率被认为是负或低,当得分为5到7分时,最终比率被认为是高。cd8淋巴细胞浸润分为强浸润(上皮细胞= 10/100或基质细胞=20/100)和弱浸润(结果:共纳入40例患者;12例为1期或2期,28例为晚期。92.5%的患者PD-L1表达阳性。PD-L1和CD8-淋巴细胞对总生存率均无影响,但在晚期亚组中,高PD-L1与较好的生存率相关(p = 0.036),高CD8-淋巴细胞浸润对生存率有较好的影响,但未达到显著性意义。与cd8淋巴细胞浸润有显著相关性;无论是上皮还是间质,以及肿瘤PD-L1的表达;p值分别为0.001和< 0.0001。低CD8+浸润和低PD-L1患者亚组生存率最差。结论:喉癌CD8- 1淋巴细胞浸润与PD-L1表达存在相关性,PD-L1高表达与喉癌晚期生存率较高相关。关键词:PD-L1, CD8,喉癌,肿瘤微环境
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引用次数: 0
Decoding The Genetic Alterations In Cytochrome P450 Family 3 Genes And Its Association With HNSCC. 细胞色素P450家族3基因的遗传改变及其与HNSCC的关系
Q3 Medicine Pub Date : 2021-09-01
S Kamala Devi, A Paramasivam, A S Smiline Girija, J Vijayashree Priyadharsini

Introduction: Cytochrome P450 (CYPs) are enzymes belonging to the family of heme-containing proteins, most commonly found in the endoplasmic reticulum and mitochondria. These enzymes catalyze a variety of functions including metabolism of steroids, fatty acids, natural compounds, drugs and carcinogenic chemicals. The inherent association of CYPs with disease conditions have turned the focus into the genetic alterations or variations associated with phenotypes such as drug responsiveness, chemical toxicity and bioconversion of procarcinogens to active carcinogens.

Results: A total of 8 genes of the CYP3 family were analyzed, among which 4 genes were found to harbour gross abnormalities and variations. The genes CYP3A4, CYP3A5, CYP3A7, CYP3A43 showed a common pattern of gene amplification in a group of patients. Truncating and missense variants were also identified of which rs199908125 of CYP3A4 and rs768530577 of CYP3A5 were reported in different populations.

Materials and methods: The present observation study utilizes several computational tools to identify and predict the possible outcomes of gene alterations in CYP3 family of genes with head and neck squamous cell carcinoma (HNSCC). cBioportal hosts an exhaustive collection of datasets of various cancers which was the primary source of analysis. Oncoprint data obtained was further analysed using tools such as PROVEAN, I-Mutant and gnomAD.

Discussion: The gnomAD analysis revealed a few polymorphic rare variants with minor allele frequency less than 0.01, which could have a putative association with HNSCC. Five out of eight variants identified were found to be deleterious exhibiting decreased protein stability.

Conclusion: Further screening of the genetic abnormalities through experimental validation in different populations are warranted to derive an association between the gene identifiers and disease phenotype.

细胞色素P450 (CYPs)是一种属于血红素蛋白家族的酶,最常见于内质网和线粒体。这些酶催化多种功能,包括类固醇、脂肪酸、天然化合物、药物和致癌化学物质的代谢。CYPs与疾病状况的内在关联已将焦点转向与表型相关的遗传改变或变异,如药物反应性、化学毒性和前致癌物向活性致癌物的生物转化。结果:共分析CYP3家族8个基因,其中发现4个基因存在明显异常和变异。CYP3A4、CYP3A5、CYP3A7、CYP3A43基因在一组患者中表现出共同的基因扩增模式。CYP3A4的rs199908125和CYP3A5的rs768530577在不同的人群中也被发现有截断和错义变异。材料和方法:本观察研究利用几种计算工具来识别和预测头颈部鳞状细胞癌(HNSCC)患者CYP3基因家族基因改变的可能结果。cBioportal拥有各种癌症的详尽数据集,这是分析的主要来源。使用provan、I-Mutant和gnomAD等工具进一步分析获得的oncopprint数据。讨论:gnomAD分析显示,少量等位基因频率小于0.01的多态罕见变异可能与HNSCC有关。鉴定出的8个变异中有5个是有害的,表现出蛋白质稳定性下降。结论:通过实验验证在不同人群中进一步筛选遗传异常是有必要的,以得出基因标识符与疾病表型之间的关联。
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The gulf journal of oncology
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