Bladder Paraganglioma Presenting as Post-Micturition Syncope.

A 22-year-old woman presented with a 12-year history of intensifying paroxysms of anxiety, palpitations and recurrent syncope following micturition. The patient was referred to endocrinology upon discovery of hypertension. An extended family history revealed metastatic phaeochromocytoma and paraganglioma in two grand-uncles. Clinical examination revealed hypertension, with a mean 24-hour ambulatory blood pressure of 150/100 mmHg. Supine plasma normetanephrines were markedly elevated with a raised 3-methoxytyramine, while plasma metanephrines were normal. Computed tomography identified a 4.4 cm mass at the right inferolateral margin of the bladder wall. Scintigraphic imaging confirmed unifocal bladder lesion uptake with no additional metastatic lesions. Following pre-operative alpha blockade, the patient underwent a partial cystectomy. Histology confirmed a paraganglioma, and SDHB staining was lost in neoplastic cells consistent with an SDHB-related paraganglioma. Plasma normetanephrine, 3-methoxytyramine and blood pressure returned to normal postoperatively. Genetic screening identified a germline heterozygous SDHB gene variant c.723C>G. Bladder paragangliomas are a rare but important differential to consider when investigating post-micturition syncope. An extended family history should be sought and suspicion for a genetic cause should be raised, especially when the condition presents at a young age. This is the first reported case describing phaeochromocytoma or paraganglioma with the SDHB gene variant c.723C>G. LEARNING POINTS: Bladder paragangliomas are a rare neuroendocrine tumour which should be considered when assessing patients with haematuria and hypertension, headache, palpitations, sweating and facial pallor with micturition.This case highlights the importance of a thorough clinical history with an extended family history and examination in the setting of micturition syncope, which can rarely occur with bladder paraganglioma.Young age at presentation, a family history of phaeochromocytoma and paraganglioma (PPGL), unusual paraganglioma location, mutifocality and aggressive disease should raise the suspicion for a genetic predisposition to PPGL.

Imaging features of atypical adrenocortical adenomas: a radiological-pathological correlation.

OBJECTIVE: Adrenal adenomas are frequently picked up incidentally on cross-sectional imaging and are known to have a classic imaging appearance on CT and MRI. However, not all adrenal adenomas have this typical radiologic appearance. Our aim is to present the radiological features of atypical adrenocortical adenomas with pathological correlation. METHODS: All the imaging from the pathologically proven adrenal adenoma cases in our hospital (Tallaght University Hospital, Dublin, Ireland) database (from 2004 to 2019) was reviewed. 8 out of 48 cases (16%) had an atypical radiological appearance and were selected for presentation. RESULTS: Eight cases demonstrated atypical radiological features including heterogeneous density, incomplete washout on post-contrast imaging, the presence of macroscopic fat and calcification. Lipomatous metaplasia was present in two of the cases pathologically. CONCLUSION: Adrenocortical adenomas are the most common adrenal mass encountered on CT, however, may not always have classic imaging features. Radiologists should be familiar with both the typical and atypical imaging manifestations of these benign adrenal lesions. ADVANCES IN KNOWLEDGE: This paper comprehensively describes the atypical features of adrenocortical adenomas with case examples and radiologic-pathologic correlation. Guidelines and an approach to the work-up of adrenal lesions with atypical appearances are also provided.

Risk of Progression of Gastric Intestinal Metaplasia Is Significantly Greater When Detected in Both Antrum and Body.

BACKGROUND: Gastric cancer (GC) is the fifth leading cause of cancer-related death worldwide. GC is usually preceded by a cascade of well-defined precursor lesions, set in place by an environmental trigger (H. pylori) including intestinal metaplasia (GIM) and dysplasia. AIMS: To investigate the rates of progression of GIM to dysplasia and GC in a region of low gastric cancer incidence. METHODS: We identified all patients diagnosed with GIM between January 1, 2008, and June 30, 2012. Any repeat upper endoscopy more than 1 year after index diagnosis and before December 31, 2018, was considered follow-up. Carcinomas the bulk of which were macroscopically located below the OGJ were considered primary gastric cancer. RESULTS: Progression to more advanced lesions was observed in six patients (0.6%). Four patients (three male) developed GC at median age 74 years (SD 6). Two patients progressed to dysplasia (one male) at median age 71 years (SD 4). Patients with GIM in both gastric antrum and body were significantly more likely to progress than those with GIM in only one location (3.1% vs. 0.4%) (p value 0.017). Fifty-eight patients who had H. pylori eradicated were followed up. No progression to dysplasia or GC was noted in this group, with 28 patients having persistent GIM at follow-up. CONCLUSION: Patients with GIM in both antrum and body had a significantly increased risk of progression and warrant close attention. This is comparable to routinely followed premalignant conditions such as Barrett's esophagus and Colonic Polyps, and appropriate surveillance protocols should be followed in this group.

Dye-based chromoendoscopy following polypectomy reduces incomplete polyp resection.

Background and study aims The completeness of a polyp resection is an important determinant of quality in colonoscopy, and may reduce incidence of interval cancers. Incomplete resection rates (IRR) vary widely and range from 6.5 % to 22.7 %. Residual disease is more likely with larger polyps, for sessile serrated adenomas, and with more proximal lesions. Chromoendoscopy is increasingly employed in lesion detection. The aims of this study were to assess local IRR, and to determine whether chromoendoscopy could correctly identify residual disease post polypectomy. Patients and methods This was a prospective study examining post polypectomy sites. Chromoendoscopy (0.13 % indigo carmine) was applied to resection bases to identify residual disease. Targeted base biopsies were taken from identified residual disease (positive group) or random base biopsies were taken when a clear base was visualised (negative group). Overall rates of incomplete resection were documented. Reported rates post chromoendoscopy and actual histological rates were documented and compared. Results A total of 102 polyps were identified for inclusion, of which 15 % (n = 16) were excluded. Resection quality was evaluated in 86 polyps of 61 patients (female n = 33 54 %; mean Age 62.3 years). Polyps were mainly removed by cold snare (n = 71, 82.5 %). Most polyps (n = 58, 67 %) measured between 5 to 10 mm. Polyps were largely located in the right colon (n = 57, 66 %). Overall histological residual disease occurred in 17 /86 (19.6 %). Chromoendoscopy correctly identified residual disease in 13 of 17 bases (76.5 %). Only four of /86 (4.6 %) of polyp bases were missclassified post-chromoendoscopy (odds ratio 0.284 (95 % CI 0.0857-0.9409), P  = 0.03). Conclusion Indigo carmine chromoendoscopy improves early detection of residual disease post polypectomy, reducing incomplete resection rates.

Subcutaneous sacrococcygeal myxopapillary ependymoma misdiagnosed as pilonidal disease.

Ependymomas are neoplasms which arise from the radial glial cells, which many recent studies have proposed are neural stem cells. Extracranial ependymomas are rare. We present the case report and supporting multimedia of a 37-year-old man who presented with a painless intergluteal swelling which was diagnosed clinically as a pilonidal cyst. However, on excision, he was found to have a subcutaneous sacrococcygeal myxopapillary ependymoma based on histological findings. His management and follow-up are presented and discussed. Given the rare nature of this condition, there is a lack of published guidelines on management and follow-up protocols. Supporting evidence is limited to sporadic case reports. This case highlights the diagnostic challenges and management strategies adopted supported by the best available evidence.

Primitive neuroectodermal tumour with synchronous ipsilateral clear cell carcinoma of the kidney.

We report the first case of a synchronous ipsilateral primitive neuroectodermal tumour (PNET) and clear cell renal cell carcinoma of the kidney. A 37-year-old man presented to the emergency department with a 24-hour history of colicky abdominal pain and visible haematuria. He had no relevant surgical or medical history. Physical examination was unremarkable apart from mild left flank tenderness. Triphasic CT of the abdomen and pelvis showed two solid lesions in the left kidney. Further staging CT of the chest showed no evidence of local or distal metastasis. He subsequently underwent laparoscopic radical nephrectomy. Pathological analysis of the kidney showed two synchronous renal tumours, a clear cell carcinoma and PNET of the kidney. The patient received adjuvant chemotherapy according to Ewing's sarcoma chemotherapy protocol. Surveillance CT scans at 3, 6 and 12 months showed no evidence of disease recurrence or metastasis.

Colorectal intussusception secondary to primary rectal melanoma: A novel case report.

INTRODUCTION: Intussusception in adults is a rare condition, accounting for just 5% of all cases. Approximately 50% of cases of large intestine intussusception occur due to a malignant neoplasm. We present here a novel case report of colo-rectal intussusception arising secondary to a primary rectal melanoma. PRESENTATION OF CASE: We present the case of an 85 year-old patient, who underwent a colonoscopy for investigation of weight loss and altered bowel habit. At colonoscopy, a pigmented polypoid mass was visualised in the upper third of the rectum. The lesion was causing colo-rectal intussusception. Initial biopsies of the specimen stained positive for S-100. The patient had an MRI (magnetic resonance imaging) pelvis, which demonstrated a mass at the rectosigmoid junction, which was diffusely high signal on the fat sat T1 weighted sequence. The patient proceeded to a laparoscopic anterior resection and had an uncomplicated post-operative course. The resected specimen was sent for pathological analysis. The morphological and immunohistochemical profile was consistent with malignant melanoma. There was no evidence of cutaneous melanoma following a full skin examination. DISCUSSION: Rectal melanoma is a rare condition. We present a novel case report of colo-rectal intussusception arising secondary to rectal melanoma. CONCLUSION: This is a rare entity. This patient's pre-operative MRI and biopsy samples suggested this lesion was a rectal melanoma, which was subsequently confirmed on analysis of the resected specimen. Surgical resection of such neoplasms should be attempted where possible.

A Case of Primary Gastric Melanoma Exhibiting a Rare BRAF V600R Mutation.

INTRODUCTION: Malignant melanoma of the gastrointestinal tract is usually a metastasis from a cutaneous source. Primary gastric melanoma is an extremely rare clinical entity, with few reported cases worldwide. It is often advanced at time of diagnosis and is associated with a dismal outcome. BACKGROUND: A 76 year old gentleman presenteded with a one month history of fatigue and exertional dyspnoea. Laboratory investigations indicated an anaemia, with a haemoglobin level of 11.0g/dl. Subsequent gastroscopy visualised a large, atypical, crater-like ulcerated lesion distal to the cardia in the proximal stomach.Provisional histology was suggestive of a poorly differentiated adenocarcinoma but subsequent cyto-morphology and immunophenotyping were consistent with melanoma, with positive S100 protein, HMB45 and Melan A. Further molecular genetic testing revealed a V600R mutation in the BRAF gene, which is the first primary gastric melanoma with this mutation to be reported in the literature. Given the rarity of the findings, an extensive secondary work-up was undertaken, which concluded the diagnosis primary gastric melanoma. DISCUSSION: Primary gastric melanoma is a rare disease that can present similarly to other upper gastrointesinal lesions, with weight loss, abdominal pain, malena, and anaemia. Given its rarity, the pathogenesis is poorly understood. Lesions are often endoscopically atypical. Important points to note would include the absence of a primary lesion, as supported by a full skin examination and PET-CT findings, which can help to delineate the limitation to the stomach, thus helping to inform subsequent management. LEARNING POINTS: Primary gastric melanoma (PGM) is a rare clinical entity.Work-up including skin and ophthalmic examination is important to exclude a primary cutaneous source, as this helps dictate both prognosis and subsequent management, including whether surgical resection is advisable.Immunophenotyping and genetic testing inform management but, despite advances in therapy, the prognosis of PGM and other mucosal melanomas remains poor.

Clinical Outcome of Patients with Raised Intraepithelial Lymphocytes with Normal Villous Architecture on Duodenal Biopsy.

INTRODUCTION: The finding of a raised intraepithelial lymphocytes (IELs) count with normal villous architecture is of sufficient clinical importance to be reported in routine duodenal biopsies. AIM: To study the clinical and demographic data of patients with isolated increased IELs on duodenal biopsy. METHODS: A single-tertiary-centre retrospective study was carried out with a review of medical records of patients with increased IELs. Patients from 2012 to 2014, >18 years with at least one biopsy from the second part of the duodenum with increased IELs; defined as >25 IELs/100 enterocytes, with preserved villous architecture were identified from our histopathology database with exclusion of patients with coeliac disease (CD).Clinical and demographic data were recorded following a chart review. CD was diagnosed by the attending physician based on the Physician Global Assessment. Data was compared between groups using a Student t test and ORs were calculated as appropriate. Statistical significance was set a priori at p < 0.05. RESULTS: Over 24 months, 6,244 patients were found to have duodenal biopsies and 114 (1.8%) had isolated increased IELs. Of the patients with increased IELs, the mean age was 50 years and 34 (30%) were male. Follow-up was available in 75 (65%) of these and CD was subsequently diagnosed in 32% (n = 24). CD was associated with the female gender (22 out of 24 vs. 39 out of 51, OR 7.5, older age 55 vs. 41 years, p < 0.04), and higher IEL count with an IEL of >40 in 11 out of 24 (46%) with CD vs. 12 out of 51 (24%) without CD, p = 0.0006. CONCLUSION: It is a non-specific but important finding, as it can have clinical implications.

Primary clear cell carcinoma of the rete testis: 1st report.

Primary tumours of the rete testis, either benign or malignant, are very rare. Such lesions require careful scrutiny including immunohistochemical analysis to exclude malignant lesions such as mesothelioma or papillary serous carcinoma. To the best of our knowledge this is the first report of a primary clear cell carcinoma of the rete testis. The possibility of a primary renal cell carcinoma or other primary site with metastatic spread to rete testis was excluded by thorough clinical and radiological work-up.

A pathologist's survey on the reporting of sessile serrated adenomas/polyps.

AIM: The purpose of this survey was to ascertain reporting habits of pathologists towards sessile serrated adenomas/polyps (SSA/P). METHODS: A questionnaire designed to highlight diagnostic criteria, approach and clinical implications of SSA/P was circulated electronically to 45 pathologists in the UK and North America. RESULTS: Forty-three of 45 pathologists agreed to participate. The vast majority (88%) had a special interest in gastrointestinal (GI) pathology, had great exposure to GI polyps in general with 40% diagnosing SSA/P at least once a week if not more, abnormal architecture was thought by all participants to be histologically diagnostic, and 11% would make the diagnosis if a single diagnostic histological feature was present in one crypt only, while a further 19% would diagnose SSA/P in one crypt if more than one diagnostic feature was present. The vast majority agreed that deeper sections were useful and 88% did not feel proliferation markers were useful. More than one-third did not know whether, or did not feel that, their clinicians were aware of the implications of SSA/P. CONCLUSIONS: 98% of pathologists surveyed are aware that SSA/P is a precursor lesion to colorectal cancer, the majority agree on diagnostic criteria, and a significant number feel that there needs to be greater communication and awareness among pathologists and gastroenterologists about SSA/P.

Video-assisted lobectomy for endobronchial leiomyoma.

Endobronchial leiomyomas are rare tumours arising from the smooth muscle on the bronchial tree. We describe a patient with a six-month history of chest infections, who was treated surgically with a video-assisted thoracic surgery (VATS) lobectomy. The pathology revealed an endobronchial leiomyoma that coexisted with postobstructive pulmonary non-necrotising granulomas.