Incidental Findings In Patients Research Articles

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order to investigate the criteria and processes for assigning the pathogenicity of specific variants and to estimate the frequency of such incidental findings in patients of European and African ancestry, we classified potentially actionable pathogenic single-nucleotide variants (SNVs) in all 4300 European- and 2203 African-ancestry participants sequenced by the NHLBI Exome Sequencing Project (ESP). We considered 112 gene-disease pairs selected by an expert panel as associated with medically actionable genetic disorders that may be undiagnosed in adults. The resulting classifications were compared to classifications from other clinical and research genetic testing laboratories, as well as with in silico pathogenicity scores. Among European-ancestry participants, 30 of 4300 (0.7%) had a pathogenic SNV and six (0.1%) had a disruptive variant that was expected to be pathogenic, whereas 52 (1.2%) had likely pathogenic SNVs. For African-ancestry participants, six of 2203 (0.3%) had a pathogenic SNV and six (0.3%) had an expected pathogenic disruptive variant, whereas 13 (0.6%) had likely pathogenic SNVs. Genomic Evolutionary Rate Profiling mammalian conservation score and the Combined Annotation Dependent Depletion summary score of conservation, substitution, regulation, and other evidence were compared across pathogenicity assignments and appear to have utility in variant classification. This work provides a refined estimate of the burden of adult onset, medically actionable incidental findings expected from exome sequencing, highlights challenges in variant classification, and demonstrates the need for a better curated variant interpretation knowledge base.

Eosinophilic oesophagitis.

Eosinophilic oesophagitis (EoE) is an antigen-driven pan-oesophagitis that is defined by the presence of at least 15 eosinophils per high power field on oesophageal histology in conjunction with upper gastrointestinal symptoms. EoE is closely associated with atopic disorders, in particular with food allergy, and as for other atopic diseases in childhood, there is a strong preponderance of male patients who have this disorder. The mechanisms leading to EoE have been characterised at the molecular level. Eotaxin-3, interleukin-5 and interleukin-13 are the key effector molecules in EoE pathogenesis. EoE presents with a diverse range of gastrointestinal symptoms, including regurgitation, vomiting, feeding difficulties or feeding refusal in infancy, as well as heartburn, dysphagia and food bolus impaction in older children and adults. The diagnosis may also be ascertained as an incidental finding in patients undergoing gastroscopy for other suspected conditions, including coeliac disease. EoE is different from gastro-oesophageal reflux disease and does not improve in response to proton pump inhibitors. Therefore, EoE needs to be distinguished from so-called PPI-responsive oesophageal eosinophilia. The long-term prognosis of EoE remains poorly defined, and complications mainly relate to subepithelial remodelling and fibrosis that may result in dysmotility, dysphagia and oesophageal strictures. The treatment of EoE involves elimination diets and topical swallowed aerosolised corticosteroids, while biological therapies targeting molecular mechanisms have so far been unsuccessful. In children, elemental diets have proved highly effective, but multiple food elimination diets are more sustainable in the long term. Further randomised, controlled trials on dietary or pharmacological interventions are needed to inform the optimal long-term management of EoE.

Incidental Findings in Patients Evaluated for Pulmonary Embolism Using Computed Tomography Angiography

Introduction: Pulmonary embolism (PE) is a common lethal disease that its clinical symptoms may be seen in many other diseases. Computed tomography pulmonary angiography (CTPA) is a valuable diagnostic modality for detection of PE. In addition, it can accurately detect the other diseases with clinical symptoms similar to PE. The aim of this study is to evaluate the frequency of PE and nonembolic disease with similar clinical symptoms including pulmonary, pleural, mediastinal, and cardiovascular diseases that have been detected by CTPA and to describe the importance of reporting these CT findings. Materials and Methods: In this cross‐sectional study, we evaluated the medical records of CTPA in 300 patients of suspected PE between March 2012 and February 2013 in Imam Reza Hospital and Ghaem Hospital in Mashhad University of Medical Sciences, Mashhad, Iran. Demographic information and the results of CTPA of these patients were re‐evaluated. One radiologist reviewed all of the CTPA and the results have been analyzed by SPSS‐16 software. Results: In this study, PE was detected in 18.7% of patients. Multiple incidental imaging findings were diagnosed as follow: pulmonary consolidation (33.2%), pleural effusion (48.7%), pulmonary nodules (10%), pulmonary masses (1.3%), pneumothorax (4.7%), mediastinal mass and lymphadenopathy (9.3%), aortic calcification (42%), coronary arteries calcification (27.3%), mitral valve calcification (2 %), cardiomegaly (30.7%), and the evidences of right ventricular dysfunction (6.7%). Conclusion: A group of disease can cause the clinical symptoms similar to that of PE. Among them, pulmonary consolidation and pleural effusion have much higher frequency than PE. In addition, CTPA can show pathologic findings in the patients that need follow‐up. It is important to detect and report these imaging findings because some of them may change the treatment and prognosis of patient who are suspected to have PE.

Incidental findings in computed tomographic angiography for planning percutaneous aortic valve replacement: advanced age, increased cancer prevalence?

Increased age is linked with a higher cancer risk according to model calculations. Patients with severe atherosclerotic aortic stenosis are of old age, therefore, a high incidence of malignancies should be found. To evaluate the prevalence of clinically significant and potentially malignant incidental findings at computed tomographic angiography (CTA) performed in patients with severe aortic stenosis being assessed as to their suitability for transcatheter aortic valve replacement (TAVR). Between August 2008 and April 2010, CTA of the thoraco-abdominal aorta and the pelvic arterial vessels was performed in 131 patients. There were 62 women (47%) and 69 men (53%); the mean age was 81.6 years (range, 64-91 years). Incidental findings were recorded and categorized as potentially malignant, clinically significant, and clinically insignificant. Clinically significant findings were defined as those requiring immediate therapy, intervention or imaging, or follow-up examination. Of the 131 study patients, 31 (23.7%) presented significant extravascular incidental findings, 19 (14.5%) in the thorax, and 12 (9.2%) in the abdomen. Five lesions (3.8%) were considered potentially malignant, three of them (2.3%) were new and highly suspicious for malignancies (two renal cell carcinomas and one hepatocellular carcinoma). In two patients (1.5%) mediastinal lymphadenopathy was found (recurrent malignant lymphoma und new metastases from known bladder cancer). The prevalence of highly suspicious malignant incidental findings in patients undergoing TAVR is 3.8% with an average age of 81.6 years which is not high compared to prevalence in the literature dealing with patients aged <70 years.

Unusual Forms of Adrenal and Extra-Adrenal Myelolipomas

Myelolipomas are rare benign tumors of poorly understood tumorigenesis composed of mature hematopoietic tissue and fat. They mostly occur in the adrenal glands, but extra-adrenal myelolipomas have been reported in other locations such as the presacral region or retroperitoneum. It is not unusual that they are incidental findings revealed in the study of different diseases. We report 3 unusual examples of myelolipomas. The first is a multiple, unusually large, extra-adrenal myelolipoma, presented as an autopsy finding in an individual who had died suddenly from a central nervous system hemorrhage. The remaining 2 were incidental findings in patients studied for different reasons. Both were located within another neoplasm, namely an adrenal adenoma and a liver focal nodular hyperplasia. Moreover, the first showed infiltration by a non-Hodgkin lymphoma.

Spontaneous common iliac artery thrombosis: An unusual cause of abdominal pain

Introduction: Acute arterial thrombosis is a rare and life-threatening condition which requires urgent recognition and prompt treatment to prevent limb loss or death. It usually arises from an embolic event, but it has also been reported as an incidental finding in patients with active malignancies, or connective tissue disorders. We report an unusual presentation of idiopathic common iliac thrombosis and review the literature on this subject. Case Report: Herein, we describe a case of a young healthy man who presented to our emergency department on two separate occasions with abdominal pain and was found to have left common iliac artery thrombosis. Conclusion: Iliac artery occlusion is a very rare condition that carries very serious complications. Clinicians should have a high level of suspicion and should initiate therapy as soon as the diagnosis is confirmed to avoid any catastrophic sequelae.

Congenital cholesteatoma of mastoid origin--a multicenter case series.

The mastoid is the rarest site for the onset of congenital cholesteatoma (CC). The symptoms are atypical and minimal. The aim of this multicenter retrospective descriptive study was to define this extremely rare condition and its clinical presentation, diagnosis and management. We analyzed data files for a 15-year period in 4 tertiary otology centers and discovered 6 patients with the diagnosis of CC of the mastoid. The clinical presentation of CC varied from incidental findings in patient to patient with otogenic meningitis. The most common findings during surgical procedures were mastoid cortex erosion, sigmoid plate dehiscence, dural exposure and external canal wall destruction. CC of mastoid origin tends to occur in adult patients probably because of minimal symptoms and the delayed diagnosis. It can exist for years in a nonaggressive state and develop to giant sizes. In children it is almost incidentally diagnosed. Early imaging is necessary in order to prevent serious complication.

Incidental parenchymal magnetic resonance imaging findings in the brains of patients with neurofibromatosis type 2

PurposeWhereas T2 hyperintensities known as NF-associated bright spots are well described in patients with neurofibromatosis type I (NF-1), there is a paucity of data on incidental findings in patients with neurofibromatosis type II (NF-2). We aim to characterize unexplained imaging findings in the brains of patients with NF-2.Materials and methodsThis study is retrospective, HIPAA-compliant and approved by the institutional review board. 34 patients with NF-2 underwent brain magnetic resonance imaging (MRI) between January 2000 and December 2012. T2 and T1-weighted imaging characteristics, diffusion weighted imaging (DWI) characteristics, and enhancement patterns were analyzed by visual inspection. Clinical information at time of imaging was available for all patients. Neuropathologic data was available for one patient.ResultsWe found unexplained T2 hyperintensities present on initial imaging in 23/34 patients (67%). Of the 23 patients with unexplained MRI findings, 15 (65%) had wedge-shaped T2 hyperintensities in the subcortical white matter extending to the cortex suggestive of a cortical dysplasia. 3 additional cases (17%) had a lesion within the cerebellum suggestive of a neuronal migration anomaly. In one patient where the MRI was suggestive of focal cortical dysplasia, histopathologic analysis revealed dysplastic glial foci without other alterations of cortical architecture or other cytologic abnormalities.ConclusionUnexplained T2 hyperintensities occur frequently in patients with NF-2. While they may not be the NF-2 equivalent of NF-associated bright spots seen in NF-1, some of these T2 hyperintensities in patients with NF-2 may represent underlying disorders of neuronal migration. Further studies are needed to validate our findings.

Incidental findings in patients with multiple injuries

Multislice computed tomography (MSCT) is the diagnostic criterion standard for the initial evaluation of patients with suspected multiple injuries. Besides scanning for injuries directly related to the initial trauma, MSCT scans can reveal pathologies unrelated to the trauma of clinical relevance.The aim of the present study was to determine the frequency and follow-up course of incidental findings in patients with multiple injuries. This is a retrospective analysis of prospectively collected data on 2,242 patients with suspected multiple injuries at a Level I trauma center from 2006 to 2010.The MSCT reports were retrospectively reviewed regarding abnormal findings not related to trauma. These incidental findings were classified on a four-point level scoring system with respect to clinical importance and urgency for further diagnostic and therapeutic procedures. During initial trauma center evaluation in the emergency department, 2,246 patients met our inclusion criteria. A total of 2,036 patients (90.7%) underwent MSCT; 1,142 (50.9%) of the patients had one or more incidental findings. A total of 2,844 incidental findings were detected. Overall, 349 tumor findings were noted (12.3% of all incidental findings); 113 findings were suspicious for malignant processes or metastasis. According to our classification, 168 (5.9%) of the incidental findings required urgent follow-up (Level 4), and 527 (18.5%) of the incidental findings required a follow-up before discharge (Level 3). MSCT in patients with multiple injuries reveals one or more incidental findings in more than one of two patients. A scoring system classifying for relevance of incidental findings was introduced and could be applied in routine trauma care in the future. Epidemiologic study, level III.

Incidental findings detected on abdomino-pelvic multidetector computed tomography performed in the acute setting

ObjectiveThe objective of the study is to determine the prevalence and significance of incidental findings in patients with a chief complaint of abdominal pain presenting to the emergency department (ED) who received abdomino-pelvic multidetector computed tomography. Materials and methodsWe conducted a retrospective review of data collected for 290 patients over a period of 5 months (April to September 2012) from 3 different university-affiliated EDs. Two board-certified radiologists reviewed the original images independently and recorded the incidental findings. These findings were classified as benign, indeterminate, and worrisome. Only those findings present in the original report were included in the study. If an indeterminate or worrisome incidental finding was identified, the patient's medical records were reviewed to determine if the incidental finding was previously known, whether recommendation was made for further evaluation, and whether this recommendation led to any change in management. ResultsWe identified 283 incidental findings—144 benign (51%), 114 indeterminate (40%), and 25 worrisome (9%) findings. A statistically significant difference was observed in the percentage of patients who experienced a change in management among those who received recommendations as compared with those who did not, in both previously known (87% vs 22%, P = .001) and previously unknown (70% vs 2%, P = .001) indeterminate findings. ConclusionUnlike benign incidental findings, indeterminate and worrisome findings frequently alter the course of management. Recommendation from radiologists appears to significantly contribute to the management of indeterminate incidental findings.

EComment. Coronary artery dilatation: ectasia or aneurysm

We read with great interest the paper by Singh et al [1]. They described surgical treatment including proximal ligation and plication of the aneurysm with coronary artery bypass grafting in a series of 4 cases of coronary artery aneurysm (CAA) from a single centre. We would like to congratulate the authors for bringing such a rare entity to our attention. We would also like to add a short comment on this topic. Coronary artery dilatation is an exceptional and frequently unrecognized incidental finding in patients with coronary artery disease [2]. At present there is no uniform definition of this pathology. Coronary artery ectasia (CAE) and CAA are characterized by an abnormal dilatation of the coronary artery. They are used interchangeably for the condition. CAE may be classified into four types on basis of the extent of coronary artery involvement: Type I - diffuse ectasia of two or three vessels; Type II - diffuse ectasia in one vessel and localised disease (ie, aneurysm) in another; Type III - diffuse ectasia in one vessel only, and; Type IV - localised or segmental involvement (CAA) only [3]. This classification may have prognostic implications, with the worst outcomes in types I and II [2]. CAA may be classified in three different ways on the basis of the composition of the vessel wall (true aneurysms or pseudoaneurysms), the morphologic structure (saccular or fusiform aneurysms), and size (e.g., large or giant aneurysms) [2]. The various factors contributing to CAA formation include atherosclerosis, congenital malformations, Kawasaki disease, percutaneous coronary interventions, inflammatory arterial diseases (polyarteritis nodosa, systemic lupus erythematosus, Takayasu's arteritis), infectious causes (endocarditis, syphilis, candidosis, Lyme borreliosis), chest traumas, vasculitis (eg, Behcet disease), connective tissue disorders (Marfan's syndrome, Ehlers Danlos syndrome, scleroderma), primary cardiac lymphoma and primary hyperaldosteronism [2]. CAE is used to describe diffuse dilatation (>1.5 times the normal diameter) of the coronary arteries that involves 50% or more of the length of the vessel. However, CAA is defined as a localized dilatation that exceeds the diameter of normal adjacent coronary artery segments, or the diameter of the patient's largest coronary vessel by 1.5 times. Herein, coronary artery involment is less than 50% of the total length of the vessel [2]. A giant aneurysm is defined as one where the maximal vessel diameter exceeds 20 mm in adults or 8 mm in children. In adults, the reported diameter of giant CAAs varies from 50 to 150 mm. Giant CAAs are rare, with a reported prevalence of 0.02% [4]. Potential complications include rupture (subsequent cardiac tamponade), thrombosis, embolization, dissection, mechanical obstruction, and erosion into surrounding structures. In these patients, surgery should be considered as a means to avoid complications [5]. Conflict of interest: none declared

Prevalence and significance of extravascular incidental findings on computed tomographic angiography and magnetic resonance angiography

Computed tomographic angiography (CTA) and magnetic resonance angiography (MRA) are routinely used to evaluate patients with vascular disease. They have the ability to detect unexpected non-vascular pathology. The purpose of this study was to determine the prevalence and significance of extravascular incidental findings in patients undergoing CTA or MRA. A retrospective review of 737 patients who underwent CTA and 184 patients who underwent MRA during a five-year period was performed. Incidental findings were classified as low, moderate or high significance findings. For patients with high significance extravascular findings, assessment of the rates of appropriate follow-up was conducted. Among the CTA patients, 539 (73.1%) had incidental findings. Low, moderate and high significance findings were discovered in 514 (69.7%), 95 (12.9%) and 41 (5.6%) patients, respectively. Twenty (48.8%) patients with high significance findings received appropriate follow-up investigations. Among the MRA patients, 95 (51.6%) had extravascular findings. Low, moderate and high significance findings were present in 80 (43.5%), 27 (14.7%), and 3 (1.6%) patients, respectively. Two (66.7%) patients with high significance findings were properly followed up. In conclusion, incidental findings on CTA and MRA are very common. A small percentage of these findings could be serious and were not all adequately followed-up in our study population. Referring physicians should be aware of the potential for serious incidental findings and manage them appropriately.

Incidental Superior Hypophygeal Artery Aneurysm Embedded within Pituitary Adenoma

Intra-cranial aneurysm can be incidental findings in patients with pituitary adenomas, and are usually located outside the pituitary region. However, the coexistence of intrasellar (not intracranial) aneurysms with pituitary adenomas is extremely rare. We report a patient with an incidental superior hypophygeal aneurysm embedded within a non-functional pituitary adenoma which was treated by transsphenoidal surgery after endovascular coil embolization.

Incidental pneumoparotid detected on computed tomography: Should it raise an alarm?

Pneumoparotid is often seen in patients as a result of infection or following maneuvers that lead to increase in intraoral pressures. We describe a short series of 5 cases of incidental pneumoparotid, for the first time, detected during neck contrast-enhanced computed tomography (CECT) examination. All neck CECT examinations that had been acquired over a 4-month period for indications other than pertaining to the parotid gland were retrospectively analyzed. Four hundred cases were reviewed. Five of 80 patients in whom CECT was acquired after the "puffed cheek" maneuver were detected to have incidental pneumoparotid. All remained clinically asymptomatic during the examination. Pneumoparotid may be an incidental finding in patients asked to blow air in a closed mouth during CT/magnetic resonance acquisition. An awareness of this benign finding would prevent sudden alarm of interpreting it as an anaerobic infection of the parotid in such patients.

Incidental Findings in Patients Evaluated for Thoracic Aortic Pathology Using Computed Tomography Angiography

Computed tomography angiography (CTA) is routinely used to diagnose thoracic aortic pathology and for surveillance after thoracic endovascular aortic repair. The purpose of our study was to assess the prevalence of unsuspected disease identified on CTA examination for thoracic aortic pathology and to determine potential clinical significance of these findings. A retrospective review of 242 patients (136 men and 106 women; mean age, 65.7 ± 13.9 years) referred for clinical evaluation of thoracic aortic pathology during a 12-year period was performed. CTA was acquired after obtaining full written informed consent and injecting nonionic contrast Omnipaque 350 intravenously. Subsequently, axial images were obtained from the thoracic inlet through the pubic symphysis. The prevalence of incidental findings was recorded. A finding was judged potentially significant if a therapeutic intervention or radiologic follow-up was deemed advisable on the basis of the CTA findings. Prevalence of incidental findings were noncalcified pulmonary lesions (subcentimeter nodule [28, 11.57%], nodule >1 cm [16, 6.61%], and pulmonary mass >3 cm [4, 1.65%]), calcified pulmonary nodules (35, 14.46%), simple liver cysts (32, 13.22%), contrast-enhancing liver lesion (7, 2.89%), renal mass (7, 2.89%), and pancreatic mass (5, 2.06%). Subsequent diagnostic tests were recommended for 63 findings in 55 (22.72%) patients, which revealed 11 (4.5%) patients had metastatic disease-six primary lung cancer, one metastatic lesion (mets) to the lung, one renal cell carcinoma with mets in the lung, one primary pancreatic adenocarcinoma with mets in the liver, one unknown primary with mets in the liver, and one other poorly differential metastatic carcinoma with lesions in the pancreas, adrenal glands, kidneys, and small bowel with unknown primary. CTA evaluation in patient with aortic pathology may reveal a high rate of malignant lesions. Attention to the incidental finding of suspicious lesion on computed tomographic scans in the chest and abdomen and appropriate follow-up by the requesting surgeon is important in patients undergoing surveillance for aortic pathologies.

An evaluation of vascular anomalies and incidental findings in patients with Turner syndrome

Summary Multiple thoracic vascular anomalies have been described in the setting of Turner syndrome. Careful evaluation of both venous and arterial anatomy in the chest is prudent when evaluating these cases. By highlighting the less commonly associated vascular malformations in Turner syndrome through key images, we intend to raise awareness and familiarity of these potentially clinically significant anomalies. We also hope to reinforce the importance of evaluating extra-cardiac structures to uncover the additional incidental but significant findings. Description of clinical presentation Prior studies have demonstrated a high prevalence of congenital cardiovascular malformations in Turner syndrome patients. Classic associations with bicuspid aortic valves and coarctation of the aorta are well known, but with the development of 3D MR angiography, additional vascular malformations have been highlighted. Patients with Turner syndrome have increased associations with aortic arch anomalies, including bovine arch configurations and aberrant right subclavian artery origins. Additionally, venous drainage malformations such as partial anomalous pulmonary venous return (PAPVR) and persistent left-sided superior vena cava (SVC) have been identified.

41 Lung cancer mimics and significant incidental findings in patients undergoing fast track pre-clinic computed tomography

41 Lung cancer mimics and significant incidental findings in patients undergoing fast track pre-clinic computed tomography

Gastrointestinal stromal tumors as an incidental finding in patients with a presumptive diagnosis of ovarian cancer

ObjectiveTo report the clinical presentation and oncologic outcomes of a series of patients who presented with an abdominal or pelvic mass and were diagnosed with a gastrointestinal stromal tumor (GIST).MethodsData were obtained on all patients who presented with an abdominal or pelvic mass between September 2007 and June 2010 and who were ultimately diagnosed with a GIST. The patients' medical records were reviewed. A literature review was also conducted.ResultsSix patients were identified who met the inclusion criteria. All six patients had a tumor in the intestinal tract arising from the small bowel. The mean tumor size was 12 cm (range, 6 to 22 cm). A complete resection was achieved in five of the six patients. There were no intraoperative complications; one patient had a postoperative complication. Two patients were treated with imatinib after surgery. The mean follow-up time was 32 months (range, 0.3 to 40 months). At the last follow-up, five of the six patients were without any evidence of disease. One patient died of an unrelated hepatic encephalopathy. The incidence in our institution is 3%.ConclusionGISTs are uncommon; however, they should be considered in the differential diagnosis of patients presenting with an abdominal or pelvic mass.

Imaging Evaluation of the Solitary Pulmonary Nodule

Solitary pulmonary nodules (SPNs) are common incidental findings in patients undergoing thoracic imaging studies. An SPN is a rounded opacity, circumscribed or poorly defined, measuring up to 3 cm in diameter. The radiologic characteristics, medical history, and physical examination results are help

Respiratory epithelial adenomatoid hamartomas

The aim of this study was to understand the definition of respiratory epithelial adenomatoid hamartoma (REAH) and the association between REAH and chronic sinusitis and nasal polyposis, and to describe the histology and management of REAH. Retrospective review. This retrospective review in a tertiary academic medical center studied patients with findings of REAH after endoscopic sinus surgery over a 10-year period. Age, sex, location, associated findings, radiographic features, and recurrences were reviewed. There were 54 patients with REAH identified who underwent endoscopic sinus surgery between January 2000 and May 2011. The ratio of disease between males and females was equal, and the average age at diagnosis was 52 years. Although the majority of cases had findings of REAH within the sinuses, eight (15%) were present as isolated masses within the nasal cavity. Available preoperative computed tomography scans were reviewed (n = 35), revealing no distinguishing features confirming REAH. Twenty-four cases (44%) were associated with an allergic type of chronic sinusitis and nine (17%) were associated with nasal polyposis. There were two (3.7%) recurrences, with no recurrences following repeat surgery. The average follow-up was 3.8 years. REAH is a benign entity characterized by abnormal glandular proliferation of the surface ciliated respiratory epithelium, admixed with goblet cells with no atypia or metaplastic change, rimmed by a thick basement membrane. It can present as an isolated mass within the nasal cavity or as an incidental finding in patients with chronic sinusitis. Nasal polyposis and allergic sinusitis can also be associated with REAH. Recurrences are rare with complete excision being essentially curative.