Multinodular and vacuolating neuronal tumor incidentally discovered in a young man: Conventional and advanced MRI features.
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SUBMITTER: Makrakis D
PROVIDER: S-EPMC6083006 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
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Multinodular and vacuolating neuronal tumor incidentally discovered in a young man: Conventional and advanced MRI features.
Makrakis Dimitrios D Veneris Stefanos S Papadaki Efrosini E
Radiology case reports 20180806 5
Multinodular and Vacuolating Neuronal Tumor (MVNT) has been included in the most recent (2016) <i>World Health Organization Classification of Tumors of the Central Nervous System</i> as unique cytoarchitectural pattern of gangliocytoma. We present a case of a MVNT incidentally discovered in a 22-year old male, who presented with seizures after a head injury. Conventional MRI revealed a left parietal lesion with characteristic tiny, coalescent, well-defined, non-enhancing nodules, located in the ...[more]
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Project description:Multinodular and vacuolating neuronal tumor (MVNT) is a new pattern of neuronal tumour included in the recently revised WHO 2016 classification of tumors of the CNS. There are 15 reports in the literature to date. They are typically associated with late onset epilepsy and a neoplastic vs. malformative biology has been questioned. We present a series of ten cases and compare their pathological and genetic features to better characterized epilepsy-associated malformations including focal cortical dysplasia type II (FCDII) and low-grade epilepsy-associated tumors (LEAT). Clinical and neuroradiology data were reviewed and a broad immunohistochemistry panel was applied to explore neuronal and glial differentiation, interneuronal populations, mTOR pathway activation and neurodegenerative changes. Next generation sequencing was performed for targeted multi-gene analysis to identify mutations common to epilepsy lesions including FCDII and LEAT. All of the surgical cases in this series presented with seizures, and were located in the temporal lobe. There was a lack of any progressive changes on serial pre-operative MRI and a mean age at surgery of 45 years. The vacuolated cells of the lesion expressed mature neuronal markers (neurofilament/SMI32, MAP2, synaptophysin). Prominent labelling of the lesional cells for developmentally regulated proteins (OTX1, TBR1, SOX2, MAP1b, CD34, GFAPδ) and oligodendroglial lineage markers (OLIG2, SMI94) was observed. No mutations were detected in the mTOR pathway genes, BRAF, FGFR1 or MYB. Clinical, pathological and genetic data could indicate that MVNT aligns more with a malformative lesion than a true neoplasm with origin from a progenitor neuro-glial cell type showing aberrant maturation.
| S-EPMC5887881 | biostudies-literature
Project description:Multinodular and vacuolating neuronal tumor of the cerebrum is a recently reported benign, mixed glial neuronal lesion that is included in the 2016 updated World Health Organization classification of brain neoplasms as a unique cytoarchitectural pattern of gangliocytoma. We report 33 cases of presumed multinodular and vacuolating neuronal tumor of the cerebrum that exhibit a remarkably similar pattern of imaging findings consisting of a subcortical cluster of nodular lesions located on the inner surface of an otherwise normal-appearing cortex, principally within the deep cortical ribbon and superficial subcortical white matter, which is hyperintense on FLAIR. Only 4 of our cases are biopsy-proven because most were asymptomatic and incidentally discovered. The remaining were followed for a minimum of 24 months (mean, 3 years) without interval change. We demonstrate that these are benign, nonaggressive lesions that do not require biopsy in asymptomatic patients and behave more like a malformative process than a true neoplasm.
| S-EPMC7963604 | biostudies-literature
Project description:Background/aimsColonoscopy is commonly used for colorectal cancer screening; therefore, the detection of colon subepithelial tumors (SETs) has also increased. Several research studies have been undertaken to diagnose and treat stomach and rectal SETs. The purpose of this study was to determine a diagnostic point for colon SETs by comparing histological findings with the endoscopic characteristics of colon SETs discovered by chance.MethodsA total 194 patients underwent an endoscopic ultrasound (EUS) for suspicious colon SETs during a colonoscopy from May 2014 to December 2021. A total of 105 colon SETs, which were histologically diagnosed, were finally included. Fisher's exact test was used to determine the factors associated with malignant SETs.ResultsColon SETs were predominantly present in the right colon (n = 73, 69.5%), particularly in the transverse colon (n = 32, 30.5%). The majority were smaller than 10 mm (n = 88, 83.8%), and they had hard consistencies (n = 84, 80%) and exhibited no surface changes (n = 96, 91.4%). Most of them were found in the submucosal layers (n = 54, 51.4%) and had a hypoechoic pattern (n = 56, 53.3%) in the EUS. Of the histologically confirmed cases, only three (3/105, 2.9%) were malignant. Most benign lesions were lipomas, suspected parasitic infections, or lesions caused by various inflammatory reactions, including fibrous/fibrocalcific lesions and necrotic nodules. All soft lesions were benign. Two of the three malignant lesions were adenocarcinomas, and the other was lymphoma. For the malignant SETs, there was a statistically significant alteration in the surface of the tumors (p < 0.001), and they were located where the muscularis mucosa layer was included (p = 0.008). The potential malignant SETs, granular cell tumors, and neuroendocrine tumors (NETs) had similar features, such as yellowish hypoechoic masses. Colon NETs were only found in the rectosigmoid junction. Parasitic infections and lesions, resulting in various inflammatory reactions, were observed as pale and hard SETs and mostly revealed as mixed echogenic masses located in the muscularis mucosa, submucosa, or multi-layers in the EUS.ConclusionThis study showed that small colon SETs were mostly benign lesions. Despite its rarity, pathological confirmation is crucial in cases where the SET has surface changes and has been located in a position where the muscularis mucosa layer was included on the EUS, due to the risk of malignancy.
| S-EPMC10930823 | biostudies-literature
Project description:Primary cardiac sarcoma is a rare type of intracardiac mass. This report describes a patient with atrial flutter who had a new right atrial mass incidentally discovered on transesophageal echocardiography. A thrombus was suspected based on radiographic appearance, but there was minimal change with anticoagulation. The mass was resected and found to be an undifferentiated pleomorphic cardiac sarcoma, an uncommon sub-type within the already rare category of primary cardiac neoplasms. This report highlights the importance of considering primary malignancy and thoroughly correlating radiographic and clinical evidence during the diagnostic workup of patients with intracardiac masses.
| S-EPMC10178659 | biostudies-literature
Project description:BackgroundIncidentally discovered silent brain infarcts (id-SBIs) are an understudied condition with probable clinical significance, but it is not known how patients respond to or prioritize this condition. We sought to assess reporting of id-SBIs and how patients approach their diagnosis.MethodsPatients with id-SBIs were identified from sequential scans between 12/2015-5/2016, were referred by treating clinicians, or self-referred for the study. This study used qualitative semi-structured interviews. Purposeful sampling was used to achieve diversity in acuity, setting, and recruitment strategy. Interviews were audio-recorded and transcribed. A constant comparative method was used to develop a coding schema, find consensus, and iteratively explore emergent themes until thematic saturation was achieved.ResultsOnly 10 of 102 patients prospectively identified by neuroimaging were informed of the imaging findings. Twelve participants in total were interviewed. Among the study participants, the primary themes were cognitive, emotional, and behavioral responses to diagnostic, prognostic, and therapeutic uncertainty regarding id-SBIs. Clinicians described id-SBIs to participants as an ambiguous condition. Participants feared potential consequences of id-SBIs, including symptomatic stroke, dementia, and disability. Participants attempted to reduce uncertainty with strategies including equating id-SBIs with symptomatic stroke, self-education about stroke, and seeking second opinions.ConclusionParticipants considered id-SBIs to be a serious medical condition. Ambiguous counseling by clinicians on id-SBIs provoked or failed to attenuate fear, leading to participants adopting strategies aimed at reducing uncertainty.
| S-EPMC6462438 | biostudies-literature
Project description:BACKGROUND:While silent brain infarcts (SBIs) in screened cohorts are associated with risk of symptomatic stroke and dementia, the clinical significance of incidentally discovered SBIs (id-SBIs) is unknown. Detection may offer an opportunity to initiate prevention measures, but uncertainties about id-SBIs may impede clinicians from addressing them and complicate further study of this condition. METHODS AND RESULTS:This study used semi-structured interviews of practicing clinicians. Interviews were audio recorded, transcribed, and analyzed using a grounded theory approach. A constant comparative method was used to organize emergent themes and examine new themes. Purposeful sampling was employed to achieve participant diversity. Fifteen clinicians were interviewed. Emergent themes centered on uncertainty about id-SBIs, clinical decision making in response to uncertainty, and evidence needed to resolve uncertainty. All clinicians reported uncertainty about id-SBIs: diagnostic, prognostic, or therapeutic. Differential responses to uncertainties resulted in practice variation within and between specialties. Diagnostic and prognostic uncertainty discouraged disclosure of imaging findings to patients. Vascular neurologists viewed the prognostic significance of id-SBIs as similar to symptomatic stroke. Therapeutic uncertainty was common, but most participants endorsed using stroke secondary prevention strategies. Regarding future research, all internists indicated they would consider changing practices in response to observational studies, whereas half of the neurologists expressed reluctance to modify practices based on non-randomized data. Several expressed concerns about clinical trial feasibility and lack of equipoise. CONCLUSIONS:id-SBIs are a focus of uncertainty for clinicians, leading to practice variation. Future studies must address diagnostic and prognostic uncertainty to facilitate implementation of prevention strategies.
| S-EPMC5875806 | biostudies-literature
Project description:Background Incidental detection of pancreatic cystic neoplasm (PCN) has increased. Since a small percentage of PCNs possess malignant potential, management is challenging. The recently revised American College of Radiology (ACR) recommendations define PCN measurement and growth for different categories based on baseline cyst size. However, no data are available regarding PCN growth rate under the ACR-defined size categories. Purpose To assess growth of incidentally detected PCNs on long-term imaging follow-up using revised ACR recommendations and to evaluate the association between baseline imaging features and growth. Materials and Methods This retrospective study included PCNs with baseline imaging performed between January 2002 and May 2017, with two or more cross-sectional imaging studies performed at least 12 months apart. PCN assessment was based on ACR 2017 recommendations. Cyst features, including location, septations, and mural nodules and multiplicity, were noted. Time to cyst progression (growth by ACR criteria) was examined by using baseline PCN size, among other factors. Results A total of 646 cysts in 390 patients were followed up for a median of 50 months (range, 12-186 months). A total of 184 (28.5%) cysts increased in size, 52 (8.1%) decreased in size, and 410 (63.4%) remained stable. For groups in which baseline PCN size was smaller than 5 mm, 5-14 mm, 15-25 mm, and larger than 25 mm, growth was noted in seven (13.2%), 106 (28.9%), 49 (32.2%), and 22 (29.7%) cysts, respectively. ACR baseline size categories (subhazard ratio: 2.8 [5-14-mm PCN group], 3.4 [15-25-mm PCN group], and 2.7 [>25 mm group], as compared with the <5 mm PCN group; P < .05 for each) demonstrated association with growth. Presence of mural nodules, septations, or lesion multiplicity failed to demonstrate association with growth. Among PCNs smaller than 5 mm at baseline, 100% of PCNs at 3-year follow-up and 94.2% of PCNs at 5-year follow-up were likely to remain stable. Conclusion American College of Radiology baseline size category of 15-25-mm pancreatic cystic neoplasms (PCNs) demonstrated the highest (3.1 times) likelihood of growth, as compared with the category of PCNs smaller than 5 mm. PCNs smaller than 5 mm at baseline did not demonstrate growth at 3-year imaging follow-up. © RSNA, 2019 Online supplemental material is available for this article.
| S-EPMC6716563 | biostudies-literature
Project description:IntroductionRetroperitoneal cystic lesions are uncommon heterogeneous clinical entities with no definite incidence. Their clinical presentations are different and their diagnosis is challenging. The management necessitates complete surgical excision, usually via laparotomy. Recently, laparoscopic approach is being increasingly used.Case presentationA 29-year-old female patient was referred for an incidentally-discovered huge retroperitoneal cyst. Imaging studies revealed a retroperitoneal cyst, measuring 13 * 11?cm. Diagnostic laparoscopy showed a retroperitoneal cyst displacing the small bowel and the right colon to the left side. The peritoneal covering was dissected from the cyst with caution not to cause cyst rupture. The cyst was removed partially using Endobag, then aspiration of its content to facilitate its delivery. The patient had a smooth uneventful postoperative course.DiscussionThe retroperitoneal space is large, expandable space which enables retroperitoneal cystic lesions to grow asymptomatic. CT scan remains the best imaging modality. Aspiration of its content is not routinely done as its sensitivity and specificity has been reported low. Moreover, it carries the risk of leakage of the cyst content into the peritoneal space. Open surgical complete excision is the traditional management and remains of choice. However, laparoscopic management can be tried with caution not to cause content spillage. Intraoperatively, controlled aspiration of the cyst helps in its retrieval.ConclusionPrimary retoperitoneal mucinous cystadenoma is a rare clinical entity that is usually incidentally discovered. Laparoscopic excision is safe and feasible if done by an expert laparoscopic surgeon. Care should always be taken not to cause spillage of its content.
| S-EPMC6698316 | biostudies-literature
Project description:The consequences of returning infectious pathogen test results identified incidentally in research studies have not been well-studied. Concerns include identification of an important health issue for individuals, accuracy of research test results, public health impact, potential emotional distress for participants, and need for IRB permissions. Blood RNA-sequencing analysis for non-human RNA in 3984 participants from the COPDGene study identified 228 participants with evidence suggestive for hepatitis C virus (HCV) infection. We hypothesized that incidentally discovered HCV results could be effectively returned to COPDGene participants with attention to the identified concerns. In conjunction with a COPDGene Participant Advisory Panel, we developed and obtained IRB approval for a process of returning HCV research results and an HCV Follow-Up Study questionnaire to capture information about previous HCV diagnosis and treatment information and participant reactions to return of HCV results. During phone calls following the initial HCV notification letter, 84 of 124 participants who could be contacted (67.7%) volunteered that they had been previously diagnosed with HCV infection. Thirty-one of these 124 COPDGene participants were enrolled in the HCV Follow-Up Study. Five of the 31 HCV Follow-Up Study participants did not report a previous diagnosis of HCV. For four of these participants, subsequent clinical HCV testing confirmed HCV infection. Thus, 30/31 Follow-Up Study participants had confirmed HCV diagnoses, supporting the accuracy of the HCV research test results. However, the limited number of participants in the Follow-Up Study precludes an accurate assessment of the false-positive and false-negative rates of the research RNA sequencing evidence for HCV. Most HCV Follow-Up Study participants (29/31) were supportive of returning HCV research results, and most participants found the process for returning HCV results to be informative and not upsetting. Newly diagnosed participants were more likely to be pleased to learn about a potentially curable infection (p = 0.027) and showed a trend toward being more frightened by the potential health risks of HCV (p = 0.11). We conclude that HCV results identified incidentally during transcriptomic research studies can be successfully returned to research study participants with a carefully designed process.
| S-EPMC10616181 | biostudies-literature
Project description:ObjectivesThe incidental diagnosis of nonfunctioning pituitary macroadenomas (NFPMAs) is becoming more prevalent with the spread of modern brain imaging techniques. We sought to uncover new data about their natural history and surgical outcome.DesignThis is a retrospective single-center observational study.MethodsAmong 210 patients seen for a NFPMA between 2010 and 2019, 70 (33%) were discovered incidentally (i-NFPMA). We analyzed outcomes in a total of 65 patients with available follow-up data.ResultsMean age at diagnosis (± s.d.) was 60 ± 14 years and mean maximal diameter was 20.0 ± 7.3 mm. At diagnosis, 29 patients (45%) had pituitary hormone deficits (LH/FSH 41%, TSH 29%, ACTH 15%) and 12% had visual field deficits. 26 patients underwent initial surgery, while 12 had delayed surgery after initial surveillance. In the surveillance group, the risk of tumor growth was estimated at 10%/year. Patients with hormonal deficits at diagnosis experienced earlier growth at 24 months (P < 0.02). Overall, surgical resection of the i-NFPMA led to stable or improved endocrine function in 91% of patients, with only 6% postoperative permanent diabetes insipidus. Moreover, surgery was more effective in preserving intact endocrine function (10/12) than restoring altered endocrine function to normal (6/22, P = 0.03).ConclusionAbout one-third of NFPMAs are now discovered incidentally and a significant subset may be responsible for unrecognized endocrine and visual deficits. Under surveillance the risk of further tumor growth is significant (10%/year) and seems to occur faster in patients already harboring an endocrine deficit. Early surgical removal before onset of endocrine deficits appears to lead to better endocrine outcome.
| S-EPMC10620450 | biostudies-literature