Incidental finding

偶然发现
  • 文章类型: Journal Article
    背景:偶然发现与患者的投诉无关,在诊断成像上发现,如现场护理超声(POCUS)。偶然发现代表对患者的潜在危害,并可能导致患者焦虑和与下游检测和监测相关的医疗保健成本增加。
    目的:在本研究中,我们的目的是计算POCUS发现的偶然肾囊肿的发生率。Further,我们希望描述急诊医生如何将发现传达给患者。最后,我们希望检查患者在发现偶发性肾囊肿后的12个月内是否遭受伤害。
    方法:从我们的单中心,学术急诊科(ED),我们回顾了1000例连续成年ED患者的肾脏POCUS图像,以确定是否存在肾囊肿.接下来,我们进行了手动图表审查,以确定患者是否被告知偶发肾囊肿或遭受任何患者伤害.
    结果:我们发现肾囊肿的患病率为6.5%(95%置信区间:4.9%-8.4%)。与没有囊肿的人相比,有囊肿的人更有可能年龄更大(63±14vs.49±15岁)。只有8%的患者有证据表明他们被告知其偶然的肾囊肿。没有患者接受活检或被诊断为肾细胞癌或多囊肾疾病。
    结论:偶发性肾囊肿是常见的,并且在老年人中更容易发现。在我们的研究中,医生很少告知患者他们的偶然发现。
    BACKGROUND: Incidental findings are unrelated to a patient\'s complaint, found on diagnostic imaging, such as point-of-care ultrasound (POCUS). Incidental findings represent potential harms to patients and may lead to increased patient anxiety and health care costs related to downstream testing and surveillance.
    OBJECTIVE: In this study, we aimed to calculate the rate of incidental renal cysts found by POCUS. Further, we hoped to describe how emergency physicians relay the findings to patients. Lastly, we hoped to examine if patients suffered harms in the 12 months following identification of an incidental renal cyst.
    METHODS: From our single-center, academic emergency department (ED), we reviewed renal POCUS images from 1000 consecutive adult ED patients to determine if there was a renal cyst. Next, we performed manual chart review to determine if patients were informed of the incidental renal cyst or suffered any patient harms.
    RESULTS: We found the prevalence of renal cysts to be 6.5% (95% confidence interval: 4.9%-8.4%). Those with cysts were more likely to be older compared to those without (63 ± 14 vs. 49 ± 15 years of age). Only 8% of patients had evidence that they were informed of their incidental renal cyst. No patients received a biopsy or were diagnosed with renal cell carcinoma or polycystic kidney disease.
    CONCLUSIONS: Incidental renal cysts are common and are more likely to be found in older adults. In our study, physicians infrequently informed patients of their incidental finding.
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  • 文章类型: Journal Article
    间皮/单核细胞偶发性心脏病(MICE)是一种罕见的良性病变,由单核细胞和间皮细胞组成,在心胸手术中最常遇到。我们描述了一个71岁的男性,已知主动脉瓣狭窄,在几周内出现逐渐发作的呼吸困难,以最小的努力变得更糟。经食管超声心动图显示严重的主动脉瓣狭窄和轻度心包积液。患者接受了主动脉瓣置换术,冠状动脉搭桥术,左心耳截肢.与心房附件一起接受的0.8厘米血凝块的组织学检查显示,温和的细胞聚集,单核细胞的特征与小股和间皮细胞结节相关,脂肪细胞,纤维蛋白和骨头的微小碎片。免疫组织化学分析显示,单核细胞CD4和CD68(强)阳性,钙视网膜素和角蛋白阴性。相比之下,间皮细胞钙调蛋白和角蛋白阳性,其他标志物均阴性.总之,形态学和免疫组织化学结果支持MICE的诊断。根据我们对文献的回顾,以前报告了大约60例MICE病例,我们已经列出了这些病例。我们还讨论了鉴别诊断。
    Mesothelial/monocytic incidental cardiac excrescence (MICE) is a rare benign lesion composed of monocytes and mesothelial cells that is most often encountered during cardiothoracic surgery. We describe a case in a 71-year-old man with known aortic valve stenosis who presented with gradual onset dyspnea over a few weeks, made worse with minimal exertion. A transesophageal echocardiogram revealed severe aortic stenosis and mild pericardial effusion. The patient underwent aortic valve replacement, coronary artery bypass, and amputation of the left atrial appendage. Histological examination of a 0.8 cm blood clot received along with the atrial appendage showed an aggregation of bland cells with features of monocytes associated with small strands and nodules of mesothelial cells, fat cells, fibrin and a minute fragment of bone. Immunohistochemical analysis showed that the monocytic cells were positive for CD4 and CD68 (strong) and negative for calretinin and keratin. By contrast, the mesothelial cells were positive for calretinin and keratin and negative for all other markers. In sum, the morphologic and immunohistochemical findings support the diagnosis of MICE. Based on our review of the literature, about 60 cases of MICE have been reported previously which we have tabulated. We also discuss the differential diagnosis.
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  • 文章类型: Journal Article
    E-cadherin(CDH1)中的种系致病变异导致发生小叶乳腺癌和弥漫性胃癌(DGC)的高风险。最近重新评估了CDH1携带者中DGC的累积风险(从80岁的40-83%到25-42%),并且根据家庭中胃癌的存在和数量而变化。由于没有DGC的家庭中胃癌的风险没有准确的估计,国际胃癌连锁联盟的建议并非直截了当:应建议对这些家庭进行预防性胃切除术或内镜监测.将CDH1纳入遗传性乳腺癌和卵巢癌以及胃肠道癌的组成基因面板中,由法国遗传和癌症协会在2018年和2020年推荐,导致鉴定没有DGC的小叶癌家庭,也导致偶然发现致病变异。在偶然发现的情况下,CDH1携带者的管理是复杂的,并且会给患者和提供者带来困境。我们报告了11个家族(47个CDH1携带者),来自我们的肿瘤遗传学部门,专门研究乳腺癌和卵巢癌,包括四个偶然发现。我们确认了六个家庭的医疗记录中没有弥漫性胃癌。我们通过11个CDH1携带者家族讨论了遗传性小叶乳腺癌(HLBC)中弥漫性胃癌风险的管理,其中在内窥镜监测中确定了病灶。我们还报告了CDH1载体中的新结肠印戒癌病例,一种罕见的侵袭性癌症包括在CDH1相关恶性肿瘤中.
    Germline pathogenic variants in E-cadherin (CDH1) confer high risk of developing lobular breast cancer and diffuse gastric cancer (DGC). The cumulative risk of DGC in CDH1 carriers has been recently reassessed (from 40-83% by age 80 to 25-42%) and varies according to the presence and number of gastric cancers in the family. As there is no accurate estimate of the risk of gastric cancer in families without DGC, the International Gastric Cancer Linkage Consortium recommendation is not straightforward: prophylactic gastrectomy or endoscopic surveillance should be proposed for these families. The inclusion of CDH1 in constitutional gene panels for hereditary breast and ovarian cancer and for gastrointestinal cancers, recommended by the French Genetic and Cancer Consortium in 2018 and 2020, leads to the identification of families with lobular cancer without DGC but also to incidental findings of pathogenic variants. Management of CDH1 carriers in case of incidental findings is complex and causes dilemmas for both patients and providers. We report eleven families (47 CDH1 carriers) from our oncogenetic department specialized in breast and ovarian cancer, including four incidental findings. We confirmed that six families did not have diffuse gastric cancer in their medical records. We discuss the management of the risk of diffuse gastric cancer in Hereditary Lobular Breast Cancer (HLBC) through a family of 11 CDH1 carriers where foci were identified in endoscopic surveillance. We also report a new colon signet ring cancer case in a CDH1 carrier, a rare aggressive cancer included in CDH1-related malignancies.
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  • 文章类型: Case Reports
    主动脉缩窄是一种相对普遍的先天性畸形,每1000名新生儿中大约有5名发生。狭窄通常发生在左锁骨下动脉和动脉韧带之间的主动脉峡部。它通常与二叶主动脉瓣相关。一般来说,在儿童期或成年期早期发现并治疗主动脉缩窄。如果不及时治疗,这种情况会导致未接受治疗的人的预期寿命降低。我们介绍了一个52岁的男性,他抱怨胸痛,痰,咯血持续约2年。对比增强计算机断层扫描(CT)扫描显示存在前纵隔肿块,后来被证实为胸腺癌(组织学研究)。此外,偶然发现胸主动脉缩窄,侧支循环发达.在成年患者中发现主动脉缩窄作为偶然发现是罕见的,并且在与纵隔或胸部肿瘤病理相关的情况下尤其罕见。未矫正缩窄的成人和老年患者的生存率通常较低,这类案件的管理策略是有争议的,尤其是当它与其他病理有关时。由于治疗管理的复杂性和关于这些病例的术后结局的文献有限,做出治疗决策需要多学科方法和个性化考虑每个个案。这种方法对于评估风险收益比和确定最合适的治疗方案是必要的。
    Aortic coarctation is a congenital malformation that is relatively prevalent, occurring in approximately 5 out of every 1000 births. The narrowing typically happens at the aortic isthmus between the left subclavian artery and the arterial ligament. It is frequently associated with a bicuspid aortic valve. Generally, coarctation of the aorta is identified and treated during childhood or early adulthood. If left untreated, this condition can lead to a reduced life expectancy in individuals who have not received treatment. We present a case of a 52-year-old man who complained of chest pain, sputum, and hemoptysis persisting for approximately 2 years. Contrast-enhanced computed tomography (CT) scans revealed the presence of an anterior mediastinal mass, which was later confirmed to be a thymic carcinoma (on histological study). Additionally, an incidental finding of a thoracic aortic coarctation with a well-developed collateral circulation was observed. The discovery of aortic coarctation in adult patients as an incidental finding is rare and particularly uncommon in association with mediastinal or thoracic tumor pathology. Adult and elderly patients with uncorrected coarctation generally have a low survival rate, and the management strategies for such cases are controversial, especially when it is associated to other pathologies. Due to the complexity of therapeutic management and the limited literature available on postsurgical outcomes in these cases, making therapeutic decisions requires a multidisciplinary approach and personalized consideration for each individual case. This approach is necessary to evaluate the risk-benefit ratio and determine the most suitable therapeutic solution.
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  • 文章类型: Journal Article
    基因组测序可以产生超出初始测试指示的发现,这些发现可能与患者或研究参与者的健康相关。自ACMG发表报告这些发现的建议以来的十年中,关于术语的共识仍然难以捉摸,各种术语在全球范围内使用。我们进行了范围审查,以探讨术语选择和这些选择背后的理由。如果它们包含与超出初始基因组测试适应症的发现有关的术语选择的理由,则包括文档。从3,571个独特的文档中,包括52个,其中略多于一半与临床背景有关(n=29,56%)。我们确定了用于捍卫或反对术语的四个相互关联的概念:发现的期望,有效沟通,与原始测试适应症的相关性,基因组信息是如何产生的。使用了各种理由来反对“附带”一词,而“次要”作为一个术语来描述故意寻求的发现,得到了更广泛的支持。术语选择将受益于进一步的工作,包括患者的意见。我们认为,明确的定义将改善伦理辩论,并支持超出初始测试适应症的基因组发现的交流。
    Genome sequencing can generate findings beyond the initial test indication that may be relevant to a patient or research participant\'s health. In the decade since the American College of Medical Genetics and Genomics published its recommendations for reporting these findings, consensus regarding terminology has remained elusive and a variety of terms are in use globally. We conducted a scoping review to explore terminology choice and the justifications underlying those choices. Documents were included if they contained a justification for their choice of term(s) related to findings beyond the initial genomic test indication. From 3571 unique documents, 52 were included, just over half of which pertained to the clinical context (n = 29, 56%). We identified four inter-related concepts used to defend or oppose terms: expectedness of the finding, effective communication, relatedness to the original test indication, and how genomic information was generated. A variety of justifications were used to oppose the term \"incidental,\" whereas \"secondary\" had broader support as a term to describe findings deliberately sought. Terminology choice would benefit from further work to include the views of patients. We contend that clear definitions will improve ethical debate and support communication about genomic findings beyond the initial test indication.
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  • 文章类型: Journal Article
    次要发现(SF)的检测和披露是医学上可操作的遗传性健康状况的预防策略。一些国家有关于SFs的管理和披露的指导方针,而其他人则避免检测和披露SFs。这项研究是对六个国家和欧盟的临床指南的回顾,以确定SF指南之间的异同。本审查的证据支持各国协调指南,以促进基因组学方面的广泛国际合作,并使精准医学受益。本研究可为中国SF管理指南的制定提供参考,为其他国家在伦理和方法上的挑战提供证据。
    The detection and disclosure of secondary findings (SFs) is a preventive strategy for medically-actionable hereditary health conditions. Some countries have guidelines on management and disclosure of SFs, while others avoid detection and disclosure of SFs. This study is a review of clinical guidelines from six countries and the European Union to identify similarities and differences among SF guidelines. Evidence from this review supports harmonization of guidelines across countries to promote broad international collaborations on genomics and to benefit precision medicine. This study can serve as a reference for development of SF management guidelines in China by contributing evidence from other countries to the ethical and methodological challenges under debate.
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  • 文章类型: Journal Article
    随着大脑磁共振成像(MRI)的体积和保真度的增加,对偶然发现的观察也可能增加。我们进行了系统评价和荟萃分析,以确定各种偶然发现的患病率。
    PubMed/MEDLINE,EMBASE和SCOPUS从成立到2021年5月24日进行了搜索。我们确定了6536篇引文,包括34项研究的35篇报告,包括40,777名参与者。进行了比例的荟萃分析,每个发现的年龄分层估计值来自年龄调整后的非线性模型.
    在423/35,706名参与者中观察到血管异常(9.1/1000扫描,95CI5.2-14.2),范围从1岁儿童的2/1000扫描(95CI0-7)到80岁儿童的16/1000扫描(95CI1-43)。其中,204/34,306是动脉瘤(3.1/1000扫描,95CI1-6.3),范围从1岁时的0/1000扫描(95CI0-5)到60岁时的6/1000扫描(95CI3-9)。在456/39,040名参与者中观察到肿瘤异常(11.9/1000扫描,95CI7.5-17.2),范围从1岁的0.2/1000扫描(95CI0-10)到80岁的34/1000扫描(95CI12-66)。脑膜瘤是最常见的,在246/38,076名参与者中(5.3/1000扫描,95CI2.3-9.5),范围从1岁儿童的0/1000扫描(95CI0-2)到80岁儿童的17/1000扫描(95CI4-37)。在109/27,408名参与者中观察到Chiari畸形(3.7/1000扫描,95CI1.8-6.3),松果体囊肿1176/32,170(9/1000扫描,95CI1.8-21.4)和蛛网膜囊肿在414/36,367(8.5/1000扫描,95CI5.8-11.8)。
    偶然发现在脑部MRI上很常见,可能会导致大量资源支出和患者焦虑,但通常没有临床意义。
    As the volume and fidelity of magnetic resonance imaging (MRI) of the brain increase, observation of incidental findings may also increase. We performed a systematic review and meta-analysis to determine the prevalence of various incidental findings.
    PubMed/MEDLINE, EMBASE and SCOPUS were searched from inception to May 24, 2021. We identified 6536 citations and included 35 reports of 34 studies, comprising 40,777 participants. A meta-analysis of proportions was performed, and age-stratified estimates for each finding were derived from age-adjusted non-linear models.
    Vascular abnormalities were observed in 423/35,706 participants (9.1/1000 scans, 95%CI 5.2-14.2), ranging from 2/1000 scans (95%CI 0-7) in 1-year-olds to 16/1000 scans (95%CI 1-43) in 80-year-olds. Of these, 204/34,306 were aneurysms (3.1/1000 scans, 95%CI 1-6.3), which ranged from 0/1000 scans (95%CI 0-5) at 1 year of age to 6/1000 scans (95%CI 3-9) at 60 years. Neoplastic abnormalities were observed in 456/39,040 participants (11.9/1000 scans, 95%CI 7.5-17.2), ranging from 0.2/1000 scans (95%CI 0-10) in 1-year-olds to 34/1000 scans (95%CI 12-66) in 80-year-olds. Meningiomas were the most common, in 246/38,076 participants (5.3/1000 scans, 95%CI 2.3-9.5), ranging from 0/1000 scans (95%CI 0-2) in 1-year-olds to 17/1000 scans (95%CI 4-37) in 80-year-olds. Chiari malformations were observed in 109/27,408 participants (3.7/1000 scans, 95%CI 1.8-6.3), pineal cysts in 1176/32,170 (9/1000 scans, 95%CI 1.8-21.4) and arachnoid cysts in 414/36,367 (8.5/1000 scans, 95%CI 5.8-11.8).
    Incidental findings are common on brain MRI and may result in substantial resource expenditure and patient anxiety but are often of little clinical significance.
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  • 文章类型: Case Reports
    此病例系列介绍了两例无症状的青少年血管纤维瘤病例,最初是在正畸前的X光片中偶然发现的。青少年血管纤维瘤是一种罕见的,局部侵袭性良性,具有侵袭性生长模式的血管肿瘤。由于这些肿瘤的血管过多,有活检相关的风险和多层计算机断层扫描,磁共振成像和血管造影通常用于诊断。该病变的早期症状前识别有助于早期治疗并限制潜在的危及生命的并发症。这突出了彻底解读牙科射线照片的重要性,包括对不在感兴趣的主要区域中的结构的评估。©2022澳大利亚牙科协会。
    This case series presents two asymptomatic cases of juvenile angiofibroma which were initially incidentally identified in pre-orthodontic radiographs. Juvenile angiofibroma is an uncommon, locally aggressive benign, vascular neoplasm with invasive growth patterns. Due to the hypervascularity of these tumours, there are biopsy associated risks and multi-slice computed tomography, magnetic resonance imaging and angiography are usually employed for diagnosis. Early pre-symptomatic identification of this lesion facilitates early management and limiting potential life-threatening complications. This highlights the importance of thorough interpretation of dental radiographs, including the evaluation of structures which are not in the primary region of interest. © 2022 Australian Dental Association.
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  • 文章类型: Case Reports
    Lipomas are benign fatty tumors made of fat tissue. Bladder lipomas are extremely rare. For this reason, it is necessary to be aware of the imaging features when incidentally detected in imaging.
    In the abdominal Computed Tomography (CT) performed as part of the follow-up examination of a 43-year-old patient, who had undergone surgery for adrenal adenoma five years earlier, a 14x9x8 mm smoothly marginated, ovoid-shaped, hypodense mass lesion with a homogeneous internal structure was detected in the anterior bladder wall. The pre-contrast density of the lesion was measured as -105 HU. The magnetic resonance imaging performed one year after the CT examination revealed a 14x9x8 intramural mass in the bladder wall, showing protrusion toward the lumen. The mass was observed to be markedly hypointense on fat-suppressed T1 and T2-weighted images and considered to be consistent with a bladder lipoma.
    Bladder lipomas are benign lesions that can vary in clinical presentations but usually cause hematuria. In imaging, bladder lipomas are present as homogeneous lesions containing macroscopic fat. The differential diagnosis of bladder lipomas includes other mesenchymal rare benign tumors that can arise from the submucosal layer of the urinary bladder including leiomyoma, hemangioma, plasmacytoma, fibroma, and neurofibroma. Only the liposarcoma and pelvic lipomatosis could show similar features. The less differentiated liposarcomas tend to present more heterogeneous enhancement, irregular-shaped margins, and infiltrative behaviour. Also, appropriate multiplanar reconstructions may allow the radiologist to determine if it is an extravesical pelvic lipomatosis.
    Using CT and MRI, the lesions that are rich in adipose tissue can be distinguished from other lesions, and their diagnosis can be made to a great extent. However, a histopathological examination is required for a definitive diagnosis.
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  • 文章类型: Journal Article
    BACKGROUND: Appendectomy remains one of the most common emergency operations. Recent research supports the treatment of uncomplicated appendicitis with antibiotics alone. While nonoperative management of appendicitis may be safe in some patients, it may result in missed neoplasms. We present a case of acute appendicitis where the final pathology resulted in a diagnosis of a Burkitt-type lymphoma.
    METHODS: An 18-year-old male presented to the emergency department with 24 h of right lower quadrant pain with associated urinary retention, anorexia, and malaise. Past medical history was significant for intermittent diarrhea and anal fissure. He exhibited focal right lower quadrant tenderness. Workup revealed leukocytosis and CT uncovered acute appendicitis with periappendiceal abscess and no appendicolith. Laparoscopic appendectomy was performed and found acute appendicitis with associated abscess abutting the rectum and bladder. Pathology of the resected appendix reported acute appendicitis with evidence of Burkitt-type lymphoma. A PET scan did not reveal any residual disease. Hematology/oncology was consulted and chemotherapy was initiated with an excellent response.
    CONCLUSIONS: Appendiceal lymphomas constitute less than 0.1% of gastrointestinal lymphomas. Primary appendix neoplasms are found in 0.5-1.0% of appendectomy specimens following acute appendicitis. In this case, appendectomy allowed for prompt identification and treatment of an aggressive, rapidly fatal lymphoma resulting in complete remission.
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