Polyposis

息肉病
  • 文章类型: Journal Article
    背景:重度嗜酸性粒细胞性哮喘(SEA)可能是嗜酸性粒细胞性肉芽肿合并多血管炎(EGPA)的前驱期。然而,很少有研究试图在疾病的早期阶段识别EGPA。
    目的:确定一组临床和生物学标志物,以检测可能在EGPA前驱阶段考虑的严重哮喘患者,并制定诊断决策策略。
    方法:纳入30例EGPA患者和49例SEA患者。一个完整的肺,耳朵,进行鼻和喉(ENT)和风湿病评估。血液(嗜酸性粒细胞计数,嗜酸性阳离子蛋白-ECP,IL5,IL4,总IgE,IgG4,抗中性粒细胞胞浆抗体(ANCA),痰液(嗜酸性粒细胞计数,骨膜素,评估IL8和GMCSF)和鼻涂片(嗜酸性粒细胞增多)生物标志物。哮喘控制测试,还使用了简短表格36,SinoNasalOutcomeTest-22和哮喘生活质量问卷。
    结果:SEA患者的哮喘控制较差(p<0.001)和痰中嗜酸性粒细胞水平较高(p<0.002),而EGPA患者过去的血嗜酸性粒细胞水平较高。与SEA相比,EGPA患者的痰GMCSF是唯一显着增加的生物标志物(p<0.0001)。在SEA患者中,那些有一些暗示性但不是EGPA诊断标准的人,特别是组织嗜酸性粒细胞浸润,呈现较高水平的痰GMCSF(p<0.0005),与其他患者相比,血液和痰嗜酸性粒细胞(p<0.0006,p<0.011)。
    结论:痰GMCSF和嗜酸性粒细胞可能是支持SEA患者早期诊断和治疗选择的有用生物标志物,怀疑有EGPA。
    BACKGROUND: Severe Eosinophilic Asthma (SEA) may be the prodromal phase of Eosinophilic Granulomatosis with Polyangiitis (EGPA). Nevertheless, few studies have tried to recognize EGPA in the early stages of the disease.
    OBJECTIVE: To identify a panel of clinical and biological markers to detect which severe asthmatic patient might be considered in a prodromal phase of EGPA and crafting a strategy for diagnostic decision-making.
    METHODS: 30 patients with EGPA and 49 with SEA were enrolled. A complete pulmonary, ear, nose and Throat (ENT) and rheumatologic assessment were made. Blood (eosinophil count, eosinophilic cationic protein-ECP, IL5, IL4, total-IgE, IgG4, anti-neutrophil cytoplasmic antibody (ANCA), sputum (eosinophils count, periostin, IL8 and GMCSF) and nasal smear (eosinophilia) biomarkers were assessed. Asthma Control Test, Short Form-36, SinoNasalOutcome Test-22, and Asthma Quality of Life Questionnaire were also used.
    RESULTS: SEA patients had poorer asthma control (p<0.001) and higher level of sputum eosinophils (p<0.002) while EGPA patients reported higher levels of blood eosinophils in the past. Sputum GMCSF was the only biomarker significantly increased in EGPA patients compared with SEA (p<0.0001). Among SEA patients, those with some suggestive but not diagnostic criteria of EGPA, particularly tissue eosinophilic infiltrates, presented higher levels of sputum GMCSF (p<0.0005), blood and sputum eosinophils (p<0.0006, p<0.011) in comparison with the other patients.
    CONCLUSIONS: Sputum GMCSF and eosinophils might be useful biomarkers to support early diagnosis and treatment choices in SEA patients, suspected of having EGPA.
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  • 文章类型: Journal Article
    大量的遗传性结直肠癌(CRC)和结肠息肉病不能通过确认的易感基因的改变来解释。如错配修复(MMR)基因,APC和MUTYH。最近,已经提出了一定数量的潜在易感基因,涉及到目前为止报告的少数病例。这里,我们描述了在9例怀疑患有遗传性CRC和/或结肠息肉病的无关患者中检测到NTLH1,AXIN2,RNF43,BUB1和TP53基因的罕见变异.其中7个被分类为致病性或可能的致病性变异(PV/LPV)。携带者的临床表现与报告的病例基本一致,然而,鲜明的特点。这些不常见基因中的PV/LPV可导致多达2.7%的遗传性CRC或结肠息肉病综合征。我们的发现为这些基因在癌症易感性中的作用提供了支持证据,并有助于确定相关癌症谱和携带者的癌症风险,允许在受影响的家庭中建立适当的筛查策略和遗传咨询。
    A substantial number of hereditary colorectal cancer (CRC) and colonic polyposis cannot be explained by alteration in confirmed predisposition genes, such as mismatch repair (MMR) genes, APC and MUTYH. Recently, a certain number of potential predisposition genes have been suggested, involving each a small number of cases reported so far. Here, we describe the detection of rare variants in the NTLH1, AXIN2, RNF43, BUB1, and TP53 genes in nine unrelated patients who were suspected for inherited CRC and/or colonic polyposis. Seven of them were classified as pathogenic or likely pathogenic variants (PV/LPV). Clinical manifestations of carriers were largely consistent with reported cases with, nevertheless, distinct characteristics. PV/LPV in these uncommon gene can be responsible for up to 2.7% of inherited CRC or colonic polyposis syndromes. Our findings provide supporting evidence for the role of these genes in cancer predisposition, and contribute to the determination of related cancer spectrum and cancer risk for carriers, allowing for the establishment of appropriate screening strategy and genetic counseling in affected families.
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  • 文章类型: Journal Article
    背景:这项研究的目的是评估,贝那利珠单抗在慢性鼻-鼻窦炎伴鼻息肉病(CRSwNP)未控制的重度哮喘患者中的临床获益.方法:该研究纳入了与CRSwNP相关的未控制的重度哮喘患者,这些患者开始用贝那利珠单抗治疗。肺功能,嗜酸性粒细胞增多,IgE,合并症,哮喘控制测试(ACT)的变化,哮喘控制问卷(ACQ),视觉模拟量表(VAS),生活质量(AQLQ)VAS(阻塞,drip,嗅觉缺失,面部压力),SNOT-22,减少或停药类固醇和其他药物,分析了入院和急诊就诊情况。FEOS量表和EXACTO用于反应评估。结果:我们分析了58名在12个月时完成最低限度治疗的患者。用贝那利珠单抗治疗后,恶化减少了82%(p<0.001),类固醇周期下降84%(p<0.001),急诊就诊83%p<0.001),入院率76%(p<0.001),改善哮喘控制的所有量表,(p<0.001)。就肺功能而言,在FVC%中观察到差异(p<0.001),FEV1%(p<0.001),和FEV1/FVC%(69.5±10vs.74±10,p<0.001)。关于CRSwNP,在SNOT-22中观察到差异(54.66±17vs.20.24±9,p<0.001),VAS阻塞(7.91±1vs.1.36±1,p<0。001),VAS点滴(7.76±1vs.1.38±1,p<0.001),VAS失语症(7.66±1vs.1.38±1,p<0.001)和VAS面部压力(7.91±1vs.1.22±1,p<0.001)。治疗后的平均FEOS评分为73±14。33例患者(57%)达到完全应答/超应答,16例(28%)反应良好,9例(15%)部分反应良好。结论:贝那利珠单抗对与CRSwNP相关的未控制的重度哮喘患者的给药已被证明可以改善鼻部症状,哮喘控制和肺功能。这导致对口服类固醇的需求减少,维护和抢救药物,急诊室探视,和住院,57%的患者达到临床缓解标准。
    Background: The objective of this study was to evaluate, the clinical benefit of benralizumab in patients with uncontrolled severe asthma associated with chronic rhinosinusitis with nasal polyposis (CRSwNP). Methods: The study included patients with uncontrolled severe asthma associated with CRSwNP who started therapy with benralizumab. Pulmonary function, eosinophilia, IgE, comorbidity, changes in the Asthma Control Test (ACT), Asthma Control Questionnaire (ACQ), Visual Analogue Scale (VAS), Quality of Life (AQLQ), VAS (obstruction, drip, anosmia, facial pressure), SNOT-22, decrease or withdrawal of steroids and other medication, hospital admissions and emergency visits were analysed. The FEOS scale and EXACTO were employed in the assessment of response. Results: We analyzed 58 patients who completed minimal treatment at 12 months. After treatment with benralizumab, exacerbations were reduced by 82% (p < 0.001), steroid cycles by 84% (p < 0.001), emergencies visit by 83% p < 0.001) and admissions by 76% (p < 0.001), improving all the scales for asthma control, (p < 0.001). In terms of lung function, differences were observed in FVC% (p < 0.001), FEV1% (p < 0.001), and FEV1/FVC% (69.5 ± 10 vs. 74 ± 10, p < 0.001). In relation to CRSwNP, differences were observed in SNOT-22 (54.66 ± 17 vs. 20.24 ± 9, p < 0.001), VAS obstruction (7.91 ± 1 vs. 1.36 ± 1, p < 0. 001), VAS drip (7.76 ± 1 vs. 1.38 ± 1, p < 0.001), VAS anosmia (7.66 ± 1 vs. 1.38 ± 1, p < 0.001) and VAS facial pressure (7.91 ± 1 vs. 1.22 ± 1, p < 0.001). The mean FEOS score after treatment was 73 ± 14. A complete response/super response was achieved in 33 patients (57%), good response in 16 (28%) and partial response in 9 (15%). Conclusions: The administration of benralizumab to patients with uncontrolled severe asthma associated with CRSwNP has been demonstrated to improve nasal symptoms, asthma control and lung function. This resulted in a reduction in the need for oral steroids, maintenance and rescue medication, emergency room visits, and hospital admissions, with 57% of patients achieving the clinical remission criteria.
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  • 文章类型: Journal Article
    一些专业协会指南建议对≥10例终生腺瘤性息肉患者进行结肠直肠息肉综合征的种系基因检测。这项研究评估了与遗传检测决定和结果相关的因素,当按指南推荐种系测试时。手术档案显示,有145名患者根据指南建议进行种系遗传性息肉病检测。收集人口统计学数据和病史以检查与测试决策和结果的关联。在90/145名患者中订购了生殖系基因检测,并在具有更多终生腺瘤的年轻患者中订购。在完成测试的12/53患者中检测到致病性改变。年龄较小和终生腺瘤数量较多与种系遗传改变的检测无关。事实上,与未发生改变的患者相比,发生致病性种系改变的患者中位年龄更高,终生腺瘤更少.12名具有致病性种系突变的患者中有一半不是白人非西班牙裔,尽管白人非西班牙裔患者占测试者的75.5%。本研究支持10个腺瘤性息肉阈值推荐种系遗传性息肉病检测,因为在相当大比例(>20%)的受试患者中检测到改变。尽管年龄较小和终生腺瘤数量较多与有序测试的可能性增加有关,在测试决策中,没有证据支持这些额外因素.
    Several professional society guidelines suggest germline genetic testing for colorectal polyposis syndromes in patients with ≥10 lifetime adenomatous polyps. This study evaluated the factors associated with genetic testing decisions and outcomes when germline testing was recommended per guidelines. Surgical archives revealed 145 patients with a recommendation for germline genetic polyposis testing based on guidelines. Demographic data and medical history were collected to examine their association with testing decisions and results. Germline genetic testing was ordered in 90 out of 145 patients and was ordered in younger patients with more lifetime adenomas. Pathogenic alterations were detected in 12 out of 53 patients who completed testing. Younger ages and higher numbers of lifetime adenomas were not associated with the detection of germline genetic alterations. In fact, patients with a pathogenic germline alteration had higher median ages and fewer lifetime adenomas than those without an alteration. Half of the 12 patients with a pathogenic germline mutation were not White non-Hispanic, although White non-Hispanic patients comprised 75.5% of those tested. This study supports the 10 adenomatous polyp threshold for recommending germline genetic polyposis testing, as an alteration was detected in a sizable proportion (>20%) of patients tested. Although a younger age and a higher number of lifetime adenomas were associated with an increased likelihood of ordered tests, no evidence was found to support these additional factors in testing decisions.
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  • 文章类型: Journal Article
    背景:疑似家族性腺瘤性息肉病患者的精确诊断和医疗管理应基于基因检测,这可能并不总是可用的。因此,根据APC的临床表现,建立一种新的预测APC种系致病变异(GPV)可能性的模型,可以证明在临床实践中是有用的.
    方法:采用多基因小组或单基因检测方法,对162例腺瘤性息肉病(≥10个息肉)患者进行了APC基因GPV的检测。为了生成APC基因GPV的预测模型,我们使用腺瘤性息肉病诊断时的临床病理变量进行了logistic回归分析.
    结果:90例(55.6%)患者患有APC基因的GPV。根据多元逻辑回归分析,年龄<40岁,息肉≥100,胃底腺体息肉病,发现结直肠息肉病家族史是APCGPV的独立预测因子,并用于建立使用4种预测因子预测APCGPV的公式。根据接收器操作特性分析,预测模型具有0.91(0.86-0.96)的曲线下面积。
    结论:预测APCGPV的模型将有助于腺瘤性息肉病患者和医生做出基因检测的决定。
    BACKGROUND: The precise diagnosis and medical management of patients with suspected familial adenomatous polyposis should be based on genetic testing, which may not always be available. Therefore, establishing a new model for predicting the likelihood of a germline pathogenic variant (GPV) of APC based on its clinical manifestations could prove to be useful in clinical practice.
    METHODS: The presence of GPVs of APC gene was investigated in 162 patients with adenomatous polyposis (≥ 10 polyps) using a multigene panel or single-gene testing. To generate a predictive model for GPV of the APC gene, a logistic regression analysis was performed using the clinicopathological variables available at the time of the diagnosis of adenomatous polyposis.
    RESULTS: Ninety (55.6%) patients had GPV of the APC gene. According to a multivariate logistic regression analysis, age < 40 years, polyps ≥ 100, fundic gland polyposis, and a family history of colorectal polyposis were found to be independent predictors of the GPV of APC and were used to establish a formula for predicting the GPV of APC using the four predictors. The prediction model had an area under the curve of 0.91 (0.86-0.96) according to a receiver operating characteristic analysis.
    CONCLUSIONS: The model for predicting the GPV of APC will help patients with adenomatous polyposis and physicians make decisions about genetic testing.
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  • 文章类型: Case Reports
    治疗相关息肉病(TAP),儿童癌症幸存者的获得性胃肠道息肉病,提出了类似遗传性综合征的诊断挑战。研究了四名TAP患者,2例患者放疗后显示上消化道病变,由内窥镜切除管理。两人接受了全结肠切除术;1例息肉腺癌。对患病组织的下一代测序显示,具有稳定微卫星状态的错配修复基因没有改变;然而,在所有3个癌前病变中,APC基因均存在改变Wnt信号通路的体细胞突变。整合内窥镜和手术干预至关重要,尽管正在进行的研究旨在阐明TAP管理中潜在靶向治疗的病理生理学。
    Therapy-associated polyposis (TAP), an acquired gastrointestinal polyposis in childhood cancer survivors, poses diagnostic challenges resembling hereditary syndromes. Four TAP patients were studied, revealing upper gastrointestinal lesions after radiotherapy in 2 patients, managed by endoscopic resection. Two underwent total colectomy; 1 had adenocarcinoma from a polyp. Next-generation sequencing on diseased tissue revealed no alteration in mismatch repair genes with stable microsatellite status; however, there was somatic mutation in APC gene altering Wnt signaling pathway in all 3 precancerous lesions. Integrating endoscopic and surgical interventions is crucial, although ongoing studies aim to elucidate pathophysiology for potential targeted therapies in TAP management.
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  • 文章类型: Journal Article
    胃肠道癌症是癌症发病率和死亡率的主要原因。许多胃肠道癌症是从癌症前体病变发展而来的,常见于遗传性癌症综合征患者。遗传性癌症综合征提高了我们对癌症发展和进展的理解,并促进了对癌症预防和拦截工作的评估。常见的胃肠道遗传性癌症综合征,包括他们的器官特异性癌症风险和监测建议,在本文中进行了综述。常见胃食管的管理,胰腺,也讨论了结肠前体病变,不管他们的遗传背景。需要进一步的研究来推进化学预防和免疫预防策略。
    Gastrointestinal cancers are a leading cause of cancer morbidity and mortality. Many gastrointestinal cancers develop from cancer precursor lesions, which are commonly found in individuals with hereditary cancer syndromes. Hereditary cancer syndromes have advanced our understanding of cancer development and progression and have facilitated the evaluation of cancer prevention and interception efforts. Common gastrointestinal hereditary cancer syndromes, including their organ-specific cancer risk and surveillance recommendations, are reviewed in this article. The management of common gastroesophageal, pancreatic, and colonic precursor lesions is also discussed, regardless of their genetic background. Further research is needed to advance chemoprevention and immunoprevention strategies.
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  • 文章类型: Case Reports
    粘膜脱垂综合征(MPS)是一组罕见的良性疾病,其特征是一组统一的组织学发现,被认为是反复的粘膜剪切和由紧张引起的粘膜下血管充血的结果。这组病症经常被误诊为其他息肉综合征,炎症性肠病,或由于其临床表现而导致的恶性肿瘤,外观,和稀有。我们报告了一例15岁男性无痛性直肠出血。他被发现有四个直肠息肉,被认为是由于Peutz-Jeghers综合征。一年后,通过活检进行的重复结肠镜检查显示出MPS的诊断。我们的病例强调了错构瘤性息肉和粘膜脱垂组织学之间的形态学相似性。由于MPS即使在成年人群中也是罕见的诊断,它在儿科中没有得到很好的描述。此综合征应作为小儿直肠息肉的鉴别诊断,以防止不必要的侵入性检查和治疗延误。
    Mucosal prolapse syndrome (MPS) is a rare group of benign conditions characterized by a set of unifying histologic findings thought to be the result of repeated mucosal shearing and submucosal vascular congestion caused by straining. This set of conditions is often misdiagnosed as other polyposis syndromes, inflammatory bowel disease, or malignancy due to its clinical presentation, appearance, and rarity. We report a case of a 15-year-old male who presented with painless rectal bleeding. He was found to have four rectal polyps thought to be due to Peutz-Jeghers syndrome. A repeat colonoscopy with biopsies a year later revealed a diagnosis of MPS. Our case highlights the morphologic similarity between hamartomatous polyp and mucosal prolapse histology. Since MPS is a rare diagnosis even among the adult population, it has not been well described in pediatrics. This syndrome should be on the differential diagnosis for pediatric rectal polyps to prevent unnecessary invasive testing and a delay in treatment.
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  • 文章类型: Case Reports
    背景:套细胞淋巴瘤是一种罕见的胃肠道淋巴瘤,可能表现为多发性淋巴瘤性息肉病。我们报告了一例淋巴瘤性息肉病,并对文献进行了回顾。
    方法:一名56岁的黑人和科特迪瓦籍男子,无相关既往病史,因突然出现的胃肠道梗阻症状而咨询,进化了2天。宏观检查显示结肠粘膜存在多个多倍体形成。组织学显示粘膜下层弥漫性淋巴瘤增生,由小淋巴细胞组成,核呈深色,提示淋巴瘤性息肉病.免疫组织化学检查显示肿瘤细胞表达CD20,CD5,Bcl2和细胞周期蛋白D1的抗体。它们不表达针对CD10和CD23的抗体。Ki67增殖指数为25%。因此,我们保留了套细胞淋巴瘤性息肉病的诊断。
    结论:多发性淋巴瘤性息肉病是一种罕见的实体,其特征是存在许多胃肠道多倍体病变,有时涉及胃肠道的多个部分。表现为淋巴瘤性息肉病的典型淋巴瘤是套细胞淋巴瘤;尽管,其他肿瘤可能有这个方面。
    BACKGROUND: Mantle cell lymphoma is a rare lymphoma of the gastrointestinal tract that may present as multiple lymphomatous polyposis. We report a case of lymphomatous polyposis with a review of the literature.
    METHODS: A 56-year-old man of Black ethnicity and Ivorian nationality with no relevant past medical history, consulted for a sudden onset symptoms of gastrointestinal obstruction, which evolved over 2 days. Macroscopic examination revealed the presence of multiple polyploid formations of the colonic mucosa. Histology showed diffuse lymphomatous proliferation of submucosa consisting off small lymphoid cells with a hyperchromatic crenelated nucleus, suggesting lymphomatous polyposis. Immunohistochemical examination showed expression by the tumor cells of antibodies to CD20, CD5, Bcl2, and cyclin D1. They did not express antibodies to CD10 and CD23. The Ki67 proliferation index was 25%. We have thus retained the diagnosis of mantle cell lymphomatous polyposis.
    CONCLUSIONS: Multiple lymphomatous polyposis is a rare entity characterized by the presence of numerous gastrointestinal polyploid lesions sometimes involving several segments of the gastrointestinal tract. Typical lymphoma presenting as lymphomatous polyposis is mantle cell lymphoma; although, other tumors may have this aspect.
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  • 文章类型: Journal Article
    目的:儿童胃肠道(GIT)肿瘤很少见,并且缺乏有关其影像学特征的数据。这项研究的目的是确定儿童各种GIT肿瘤类型的频率,并确定关键的影像学特征。
    方法:本回顾性研究,单中心研究获得当地伦理委员会批准.纳入了在2000年5月1日至2019年12月31日期间在机构PACS上进行影像学检查的经组织学证实的GIT肿瘤(恶性和良性)的儿童。人口统计学数据和可用的成像由两名失明的放射科医生审查。
    结果:总计,90名儿童(45名男性,平均年龄9.3±4.3岁),包括GIT肿瘤。最终诊断包括息肉(n=28),淋巴瘤/PTLD(n=27),神经内分泌肿瘤(n=16),腺癌(n=6),腺瘤(n=5),胃肠道间质瘤(GIST)(n=3),炎性肌纤维母细胞瘤(n=2),最后是平滑肌母细胞瘤,平滑肌瘤和脂肪瘤(各1个)。所有GIT部门都受到影响,但总体而言,小肠和大肠的病变最多。81%的儿童有单个病变,而其余19%的儿童有多个病变。肿瘤形成过程表现为腔内病变(58%)或壁增厚(42%)。多发性囊性区域和血管蒂用于息肉;肿块或壁增厚和动脉瘤扩张的低回声性,用于淋巴瘤,是特征性的成像特征。在切除前的影像学检查中未发现影响阑尾的神经内分泌肿瘤。
    结论:各种良性和恶性肿瘤见于整个儿童时期。息肉,淋巴瘤和阑尾神经内分泌肿瘤是常见的病变。青少年息肉和淋巴瘤的超声特征可能有助于缩小差异,并指导进一步的工作。
    OBJECTIVE: Gastrointestinal tract (GIT) tumors in children are rare and there is a scarcity of data on their imaging features. The purpose of this study was to determine thefrequency of various GIT tumor types in children and to identify key imaging characteristics.
    METHODS: This retrospective, single-center study was approved by the local ethics committee. Children with histologically proven GIT tumours (malignantand benign) who had imaging available on the institutional PACS between May 1, 2000 and Dec 31, 2019 were included. Demographic data and available imaging was reviewed by two blinded radiologists.
    RESULTS: In total, 90 children (45 male, mean age 9.3 ± 4.3 years) with GIT tumours were included. The final diagnoses included polyps (n = 28), lymphomas/PTLD (n = 27), neuroendocrine tumours (n = 16), adenocarcinoma (n = 6), adenoma (n = 5), gastrointestinal stromal tumor (GIST) (n = 3), inflammatory myofibroblastic tumours (n = 2) and lastly leiomyoblastoma, leiomyoma and lipoma (1 each). All GIT segments were affected, but overall the small and large bowel had most lesions. Eighty-one percent children had a single lesion while remaining 19 % had multiple lesions. The neoplastic process manifested as intra-luminal lesion (58 %) or wall thickening (42 %) on imaging. Multiple cystic areas and vascular pedicle for polyps; and hypoechogenecity of the mass or wall thickening and aneurysmal dilatation for lymphomas, were the characteristic imaging features. None of the neuroendocrine tumours affecting appendix were seen on pre-resection imaging.
    CONCLUSIONS: Variety of benign and malignant tumors are seen throughout the childhood. Polyps, lymphomas and appendiceal neuroendocrine tumors are common lesions. Characteristic imaging features of juvenile polyps and lymphomas on ultrasound may help narrowing the differentials, and guide further work up.
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