incidental finding

偶然发现
  • 文章类型: Journal Article
    目的:为了确定子宫内膜厚度(ET)的临界值,提示无症状的绝经后妇女进行活检,并偶然发现子宫内膜增厚,并建立风险预测模型。
    方法:这是一项回顾性队列分析,对阜兴医院宫腔镜中心的临床记录,首都医科大学,北京,中国。我们收集了无症状的绝经后妇女,这些妇女的ET≥4mm(双层)作为偶然发现。我们根据病理结果将参与者分为非恶性和恶性组,并评估两组之间的差异。采用受试者工作特征曲线(ROC)确定ET预测子宫内膜恶性程度的临界值。还构建了Logistic回归模型来预测恶性肿瘤的风险。
    结果:共纳入581例连续合格病例。ET的最佳截止值为8mm,最大曲线下面积(AUC)为0.755(95%CI:0.645-0.865)。除了ET,回归模型结合了糖尿病,血流信号,BMI,和高血压来预测恶性肿瘤的风险。为模型构建的ROC曲线产生0.834的AUC(95%CI:0.744-0.924)。
    结论:当ET为8mm或以上时,对无症状的绝经后妇女进行宫腔镜检查和视觉子宫内膜活检是合理的。对于ET在4到8毫米之间的人,进行活检的进一步决定应在个人基础上确定,考虑子宫内膜的危险因素和血流信号。
    OBJECTIVE: To determine the cutoff value for endometrial thickness (ET) that prompts a biopsy in asymptomatic postmenopausal women with an incidental finding of thickened endometrium, and to develop a risk prediction model.
    METHODS: This is a retrospective cohort analysis of the clinical records of the Hysteroscopic Center of Fu Xing Hospital, Capital Medical University, Beijing, China. We collected asymptomatic postmenopausal women who presented with an ET of ≥4 mm (double-layer) as an incidental finding. We stratified the participants into non-malignant and malignant groups based on pathology results and assessed differences between the two groups. A receiver operating characteristic curve (ROC) was used to identify the cutoff value of ET for predicting endometrial malignancy. Logistic regression models were also constructed to predict the risk of malignancy.
    RESULTS: A total of 581 consecutive eligible cases were included. The optimal cutoff value for ET was 8 mm, with a maximum area under the curve (AUC) of 0.755 (95 % CI: 0.645-0.865). In addition to ET, the regression model incorporated diabetes, blood flow signal, BMI, and hypertension to predict the risk of malignancy. A ROC curve constructed for the model yielded an AUC of 0.834 (95 % CI: 0.744-0.924).
    CONCLUSIONS: It is reasonable to offer hysteroscopy and visually-directed endometrial biopsy for asymptomatic postmenopausal women when ET is 8 mm or above. For those with an ET between 4 and 8 mm, further decision to perform biopsy should be determined on an individual basis, considering risk factors and blood flow signals of the endometrium.
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  • 文章类型: Journal Article
    背景:非甲状腺癌患者颈部淋巴结清扫术中偶然发现甲状腺包涵体是一个不寻常的事件。对于病理学家来说,这是否代表良性包涵体或转移性甲状腺乳头状癌(PTC)仍然存在争议。本研究旨在分析此类病例的临床病理特征,以探讨其临床意义。
    方法:在非甲状腺癌病例中搜索偶然发现的颈部淋巴结PTC的病理资料。重新评估并记录临床病理特征。然后在具有足够组织的情况下进行BRAFV600E蛋白表达和测序分析。
    结果:31例患者在非甲状腺癌患者的淋巴结中偶然发现PTC。在肿瘤组织充足的17个转移淋巴结中进行BRAF免疫组织化学染色,6是积极的。在6例BRAFV600E阳性病例中,有5例检测到BRAFV600E点突变。随后的甲状腺影像学检查显示20例患者无结节或钙化/良性结节,5例疑似恶性结节。12例患者接受了甲状腺全切除术或同侧肺叶切除术,6例术后病理检查显示PTC。其余19名未接受手术的患者接受了积极监测,没有人复发PTC。
    结论:在淋巴结中发现的PTC通常被解释为临床隐匿性甲状腺原发癌的转移,但并不总是检测到原发性PTC。这表明它可能是双重隐匿性病变。关于高度恶性肿瘤的并发,大多数患者可以保持定期监测。
    BACKGROUND: The incidental finding of thyroid inclusions in lymph nodes of neck dissections of non-thyroid cancer patients is an unusual event. It is still controversial for pathologists about whether this represents benign inclusions or metastatic papillary thyroid carcinoma (PTC). This study is to analyze clinicopathological features of such cases in an attempt to explore their clinical implications.
    METHODS: Pathological data were searched for incidentally detected PTC of cervical lymph nodes in non-thyroid cancer cases. Clinicopathological characteristics were reevaluated and recorded. BRAF V600E protein expression and sequencing analysis was then performed in cases with sufficient tissues.
    RESULTS: 31 patients had an incidental finding of PTC in lymph nodes of patients with non-thyroid cancer. BRAF immunohistochemical staining were performed in 17 metastatic lymph nodes with sufficient tumor tissues, and 6 were positive. BRAF V600E point mutation was detected in 5 of 6 BRAF V600E positive cases. Subsequent imaging examinations of the thyroid showed no nodules or calcifications/benign nodules in 20 patients, and suspected malignant nodules in 5 patients. 12 patients underwent total thyroidectomy or ipsilateral lobectomy, and 6 showed PTC in postoperative pathological examinations. The remaining 19 patients without surgery were kept under active surveillance, and no one had recurrence of PTC.
    CONCLUSIONS: Incidentally discovered PTC in lymph nodes has usually interpreted as metastasis from a clinical occult thyroid primary cancer, but primary PTC was not always detected. This suggests it could be double occult lesions. With regards to concurrence with highly malignant tumor, most patients could keep regular surveillance.
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  • 文章类型: Journal Article
    背景随着临床外显子组测序(ES)应用的扩大,评估偶然发现的变异体的诊断权重的标准对于指导临床医生和研究人员至关重要.这在与扩张型心肌病(DCM)相关的基因中尤为重要。会导致心力衰竭和猝死.我们试图比较临床转诊队列与对照组和已知病例队列中DCM相关基因中偶然发现的变异的频率和分布,以确定接受非DCM适应症基因检测的人群中致病性的可能性。方法与结果共39例罕见,我们从临床ES检测转诊队列(n=14005,BaylorGeneticLaboratories)中鉴定并评估了非TTNDCM相关基因,并将其与来自gnomAD数据库的DCM病例队列(n=9442)和人群变异对照队列(n=141456)进行了比较.比较每个队列中的变异频率。比较DCM和ES队列与gnomAD队列计算信噪比。DCM队列中可能的致病/致病变体产量(8.2%)显着高于ES队列(1.9%)。基于信噪比和相关分析,在FLNC中发现的偶然变异,RBM20,MYH6,DSP,ABCC9,JPH2和NEXN与DCM相关的可能性最大。结论ES队列与DCM病例队列间的致病变异分布具有基因特异性,ES队列中发现的变异与对照队列中发现的变异相似.顺便提及,在特定基因中鉴定的变体比其他变体更与DCM相关。
    Background As utilization of clinical exome sequencing (ES) has expanded, criteria for evaluating the diagnostic weight of incidentally identified variants are critical to guide clinicians and researchers. This is particularly important in genes associated with dilated cardiomyopathy (DCM), which can cause heart failure and sudden death. We sought to compare the frequency and distribution of incidentally identified variants in DCM-associated genes between a clinical referral cohort with those in control and known case cohorts to determine the likelihood of pathogenicity among those undergoing genetic testing for non-DCM indications. Methods and Results A total of 39 rare, non-TTN DCM-associated genes were identified and evaluated from a clinical ES testing referral cohort (n=14 005, Baylor Genetic Laboratories) and compared with a DCM case cohort (n=9442) as well as a control cohort of population variants (n=141 456) derived from the gnomAD database. Variant frequencies in each cohort were compared. Signal-to-noise ratios were calculated comparing the DCM and ES cohort with the gnomAD cohort. The likely pathogenic/pathogenic variant yield in the DCM cohort (8.2%) was significantly higher than in the ES cohort (1.9%). Based on signal-to-noise and correlation analysis, incidental variants found in FLNC, RBM20, MYH6, DSP, ABCC9, JPH2, and NEXN had the greatest chance of being DCM-associated. Conclusions The distribution of pathogenic variants between the ES cohort and the DCM case cohort was gene specific, and variants found in the ES cohort were similar to variants found in the control cohort. Incidentally identified variants in specific genes are more associated with DCM than others.
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