Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Endoscopic diagnosis of primary anorectal melanoma.

ABSTRACT: The present study retrospectively analyzed case data from 12 patients diagnosed with anorectal melanoma, with the purpose of identifying key diagnostic features at endoscopy.Images from colonoscopy were reviewed for all patients in order to establish the endoscopic features of primary anorectal melanoma. For the patients whose colonoscopic examinations included endoscopic ultrasound, images were examined to characterize lesions and the depth of infiltration, the results of which were compared with pathological findings after operative resection.At colonoscopy, superficial melanin pigmentation was identified in 10 patients with anorectal melanoma, with morphology including spots, patches, or sheets of pigmentation. In patients who underwent endoscopic ultrasound, lesions appeared as masses on the mucosal side with inhomogeneous or low-level internal echoes or ulcer-type lesions invading the muscularis propria. Lesions diagnosed as anorectal melanoma also demonstrated irregular margins and varying degrees of submucosal infiltration. Infiltration depth of melanoma via endoscopic ultrasound (EUS) was concordant with surgical pathology results in 100% of patients.Colonoscopy combined with biopsy and subsequent pathological examination can accurately diagnose primary anorectal melanoma. Moreover, EUS is a reliable tool for assessing the depth of infiltration of this disease.

SUBMITTER: Wang S

PROVIDER: S-EPMC5564836 | biostudies-other | 2017 Jul

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Similar Datasets

Recurrent epistaxis leading to diagnosis of primary sinonasal melanoma.

Project description:A 48-year-old man presented to urgent care with recurrent epistaxis over 6?months. Initially, nosebleeds were controlled with packing or cautery. Ultimately, he was referred to ear, nose and throat department and underwent nasal endoscopy which revealed polypoid tissue. A biopsy of the polyp showed non-specific inflammation with no evidence of malignancy. Follow-up maxillofacial CT revealed a large mass lesion in the right maxillary sinus, right nasal fossa, much of the ethmoids and right sphenoid, with destruction of adjacent bony structures. MRI revealed a mass in the right nasal cavity with extension into the ethmoid and anterior sphenoid sinus, anterior cranial fossa and medial orbits. Staging CT discovered metastatic disease in the adrenal glands and lymphadenopathy in the neck. The patient underwent endoscopic sinus surgery with debulking and tissue diagnosis of malignant melanoma. He completed radiation therapy to sinus and was subsequently enrolled in a clinical trial. Most recent imaging revealed complete metabolic response on positron emission tomography.

| S-EPMC5836620 | biostudies-literature

Utility of TERT Promoter Mutations for Cutaneous Primary Melanoma Diagnosis.

Project description:Telomerase reverse transcriptase (TERT) promoter mutations are commonly found in malignant melanomas but rare in melanocytic nevi. To assess its potential diagnostic utility for the distinction of melanoma from nevus, we determined the TERT promoter mutation status of 86 primary melanomas, 72 melanocytic nevi, and 40 diagnostically problematic melanocytic proliferations. Of the 86 melanomas, 67 (77.9%) were TERT-positive, defined as harboring a hotspot TERT promoter mutation at positions -124C>T, -124_125CC>TT, -138_139CC>TT, or -146C>T. Of the 72 nevi, only 1 (1.4%) was TERT-positive. Of the 40 diagnostically uncertain melanocytic proliferations, 2 (5.0%) were TERT-positive. TERT positivity as a test for melanoma versus nevus had an accuracy of 87.3% [95% confidence interval (CI), 81.1-92.1], a sensitivity of 77.9% (95% CI, 68.9-85.4), a specificity of 98.6% (95% CI, 95.8-100), a positive predictive value of 98.5% (95% CI, 95.6-100), and a negative predictive value of 78.9% (95% CI, 72.6-85.4). Our results indicate that hotspot TERT promoter mutation status may be a useful ancillary parameter for the diagnosis of melanoma. In particular, the high specificity of these mutations for melanoma indicates the presence of a TERT promoter mutation in a melanocytic neoplasm associated with diagnostic controversy, or uncertainty should increase concern for a melanoma.

| S-EPMC6411457 | biostudies-literature

Anorectal melanoma: surgical management guidelines according to tumour thickness.

Project description:Management of patients with anorectal melanoma is still controversial. To reach a rationale therapeutic approach, we reviewed our experience obtained over the past decade. In all, 19 consecutive patients with the diagnosis of anorectal melanoma were included in this retrospective survey. Details of the patients' presentation, symptoms, tumour size and histology and tumour state were recorded, and the primary therapeutic procedures were evaluated in detail. The size of the tumours ranged between 0.5 and 7 cm in diameter. The median tumour thickness was 10 mm (range 0.6-40 mm). At diagnosis, six of 19 patients already presented with either regional or distant metastases. The remaining 13 patients were treated with curative intend, either by abdomino-perineal resection (APR) or wide local excision (WLE). The form of operative therapy, however, had no impact on overall survival. Nevertheless, the incidence of local recurrences was lower after APR even for patients with less favourable tumours. In conclusion, WLE alone is not sufficient for local tumour control of thick anorectal melanoma.

| S-EPMC2376860 | biostudies-other

A case report of anorectal malignant melanoma in the transitional zone.

Project description:INTRODUCTION:Anorectal malignant melanoma is an uncommon and highly malignant disease with a greater incidence in females. Many patients were misdiagnosed as hemorrhoids, benign polyps, and rectal cancer. They were often diagnosed in an advanced stage. Wide local excision and abdominoperineal resection are the main treatments of rectal melanoma. PRESENTATION OF CASE:A case report is a 77-year-old man who has blood in the stool for 4 months without clinical examination. He admitted to the emergency room with sudden syndromes that related to bowel perforation. Rectal examination detected a large anorectal polyp. Computer tomography showed free air and fluid in the peritoneal cavity. He was received laparoscopic surgery and found the fishbone penetrated the sigmoid colon without polyp resection. The polyp was treated by local excision a few days later. The histology examination was a primary malignant melanoma. Due to the pigmented lesion that remained from the resected polyp's root, the abdominoperineal resection was performed as a radical treatment. DISCUSSION:Diagnosis of anorectal malignant melanoma is difficult because of atypical signs, that are confused with bleeding hemorrhoids especially an amelanotic melanoma. Treatment is controversial, including surgery, radiotherapy, chemotherapy, and target therapy. A present case is an option in radical surgery. CONCLUSION:Anorectal melanoma is a rare disease with poor results and prognosis. A lack of large-data leads to a missing evidence-based guideline in this disease. Early-staging diagnosis and surgical treatment help patients improve their overall survival.

| S-EPMC7519280 | biostudies-literature

Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment.

Project description:Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula. Our report, along with a literature review, shows that the syndrome is usually associated with "low" anomalies, with a potential for a good prognosis. Management of the anorectal anomaly in patients with KS is not essentially different from that in other nonsyndromic patients, taking into account the frequent association of the syndrome with serious congenital heart disease, which might affect the decision-making and timing of the stages of anorectal reconstruction. The frequent occurrence of learning and feeding difficulties makes establishment of toilet training and bowel management rather more challenging, requiring the expertise of a multidisciplinary team. The finding of ARMs in female patients with other characteristics of KS, although inconstant, could support the clinical suspicion for the syndrome until genetic confirmation is available, and should alert the physician for the potential of severe cardiac defects.

| S-EPMC4487125 | biostudies-literature

Diagnostic accuracy study of anorectal manometry for diagnosis of dyssynergic defecation.

Project description:The diagnostic accuracy of anorectal manometry (AM), which is necessary to diagnose functional defecatory disorders (FDD), is unknown. Using blinded analysis and standardised reporting of diagnostic accuracy, we evaluated whether AM could discriminate between asymptomatic controls and patients with functional constipation (FC).Derived line plots of anorectal pressure profiles during simulated defecation were independently analysed in random order by three expert observers blinded to health status in 85 women with FC and 85 age-matched asymptomatic healthy volunteers (HV). Using accepted criteria, these pressure profiles were characterised as normal (ie, increased rectal pressure coordinated with anal relaxation) or types I-IV dyssynergia. Interobserver agreement and diagnostic accuracy were determined.Blinded consensus-based assessment disclosed a normal pattern in 16/170 (9%) of all participants and only 11/85 (13%) HV. The combined frequency of dyssynergic patterns (I-IV) was very similar in FC (80/85 (94%)) and HV (74/85 (87%)). Type I dyssynergia ('paradoxical' contraction) was less prevalent in FC (17/85 (20%) than in HV (31/85 (36.5%), p=0.03). After statistical correction, only type IV dyssynergia was moderately useful for discriminating between FC (39/85 (46%)) and HV (17/85 (20%)) (p=0.001, positive predictive value=70.0%, positive likelihood ratio=2.3). Interobserver agreement was substantial or moderate for identifying a normal pattern, dyssynergia types I and IV, and FDD, and fair for types II and III.While the interpretation of AM patterns is reproducible, nearly 90% of HV have a pattern that is currently regarded as 'abnormal' by AM. Hence, AM is of limited utility for distinguishing between FC and HV.

| S-EPMC4686376 | biostudies-literature

Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.

Project description:Germline genetic variants have been identified, which predispose individuals and families to develop melanoma. Tumor thickness is the strongest predictor of outcome for clinically localized primary melanoma patients. We sought to determine whether there is a heritable genetic contribution to variation in tumor thickness. If confirmed, this will justify the search for specific genetic variants influencing tumor thickness. To address this, we estimated the proportion of variation in tumor thickness attributable to genome-wide genetic variation (variant-based heritability) using unrelated patients with measured primary cutaneous melanoma thickness. As a secondary analysis, we conducted a genome-wide association study (GWAS) of tumor thickness. The analyses utilized 10?604 individuals with primary cutaneous melanoma drawn from nine GWAS datasets from eight cohorts recruited from the general population, primary care and melanoma treatment centers. Following quality control and filtering to unrelated individuals with study phenotypes, 8125 patients were used in the primary analysis to test whether tumor thickness is heritable. An expanded set of 8505 individuals (47.6% female) were analyzed for the secondary GWAS meta-analysis. Analyses were adjusted for participant age, sex, cohort and ancestry. We found that 26.6% (SE 11.9%, P?=?0.0128) of variation in tumor thickness is attributable to genome-wide genetic variation. While requiring replication, a chromosome 11 locus was associated (P?<?5?×?10-8) with tumor thickness. Our work indicates that sufficiently large datasets will enable the discovery of genetic variants associated with greater tumor thickness, and this will lead to the identification of host biological processes influencing melanoma growth and invasion.

| S-EPMC7788289 | biostudies-literature

Incidence, Surgical Treatment, and Prognosis of Anorectal Melanoma From 1973 to 2011: A Population-Based SEER Analysis.

Project description:Anorectal melanoma (AM) is a rare type of melanoma that accounts for 0.4% to 1.6% of total malignant melanomas. The incidence of AM increases over time, and it remains highly lethal, with a 5-year survival rate of 6% to 22%. Considering the rare nature of this disease, most studies on AM comprise isolated case reports and single-center trials, which could not provide comprehensive assessment of the disease. Therefore, we conducted a population-based study by using the Surveillance, Epidemiology, and End Results (SEER) program to provide the latest and best available evidence of AM.We extracted all cases of AM registered in the SEER database from 1973 to 2011 (April 2014 release) and calculated age-adjusted incidence. Only cases with active follow-up were included to predict factors associated with prognosis. Survival outcomes were also compared among different types of surgery.We identified 640 AM cases, which consisted of 265 rectal melanoma and 375 anal melanoma. The estimated annual incidence rates of AM per 1 million population were 0.259 in males and 0.407 in females, and it increased with advanced age and over time. Tumor stage and surgical treatment were independent predictors of survival. Results implied that surgery improved the prognosis of patients with local- and regional-stage AM but could not prolong the survival of patients with distant-stage AM. Moreover, the outcome of less extensive excision was not statistically different from that of more extensive excision.This study provides an up-to-date estimation of the incidence and prognosis of AM by using SEER data. The incidence of AM continuously increases over time, despite its rarity. This disease also exhibits poor prognosis. Thus, AM must be further investigated in future studies. We also recommend surgery as the optimal treatment for local- and regional-stage AM patients but not for those with distant metastasis.

| S-EPMC4998623 | biostudies-literature

Endoscopic diagnosis of Fasciolopsis buski: Revisited (with video).

Project description:Fasciolopsis buski is the largest fluke parasitizing the human small intestine. F. buski infections are not uncommon in Southeast Asia. The risk factors of F. buski infection mainly include eating of raw aquatic crops and infected snails. Most infections are asymptomatic. Heavy infection can be fatal as the flukes cause extensive intestinal inflammation, intestinal perforation, small bowel stricture, ulceration, hemorrhage, and abscess formation. Endoscopic diagnosis of this parasite has been described in a few case reports. Here, we describe and illustrate the endoscopic removal of F. buski from the stomach and duodenum.

| S-EPMC7144765 | biostudies-literature

Endoscopic diagnosis of paraesophageal hernia with gastric volvulus.

Project description: Not available

| S-EPMC6031958 | biostudies-literature