Search

Introduction: Synchronous colorectal adenocarcinoma with neuroendocrine tumour (NET) are a unique combination of tumours. These may be incidental lesions, usually a histopathological diagnosis rather than a clinical diagnosis from symptoms, examination or even gross appearances. Aim: This paper aims to highlight our management strategy on manging a middle-aged woman with synchronous rectal adenocarcinoma and NET. Case study: A 53-year-old woman presented with lower gastrointestinal bleeding with constitutional symptoms. Clinical examination and colonoscopy revealed a classical rectal adenocarcinoma, confirmed via biopsy. However, the final histopathology reports of the resected tumour revealed an early rectal adenocarcinoma with synchronous NET. Results and discussion: We review the relevant literature and a discussion regarding guidelines available for diagnosis, follow-up and surveillance of this rare case. Conclusions: There are no current guidelines for surveillance colonoscopy after detecting gastrointestinal NET, particularly synchronous tumours. NET may be another colorectal cancer risk factor with similar mutations and common genetic markers. Clinicians should consider doing a colonoscopy when or if their patients are diagnosed with any gastrointestinal NET. Detection of any NET warrants a thorough evaluation of the whole colon for colorectal cancer and close surveillance so that timely management can be achieved. [ABSTRACT FROM AUTHOR]

Small intestinal neuroendocrine tumours (SI-NETs) are the most common small intestinal tumours. A particularly challenging subset of these tumours is those that involve the superior mesenteric artery or vein for which the role and feasibility of surgery are often questioned. This systematic review aimed to identify and evaluate the management strategies used for these complex SI-NETs. The identified studies showed positive outcomes with surgery and multimodality therapy.

Abstract Background Carcinoid heart disease (CHD) caused by neuroendocrine tumours (NET) is associated with an increased morbidity and mortality due to valvular dysfunction and right sided heart failure. The present study aimed to assess the prevalence and one-year-incidence of CHD in NET patients. Tumour characteristics, laboratory measurements, and echocardiographic findings were evaluated to identify predictors of CHD manifestation. Methods The study was an investigator-initiated, monocentric, prospective trial. Patients with NET without previously diagnosed CHD were included and underwent comprehensive gastroenterological and oncological diagnostics. Echocardiographic examinations were performed at baseline and after one year. Results Forty-seven NET patients were enrolled into the study, 64% of them showed clinical features of a carcinoid syndrome (CS). Three patients presented with CHD at baseline and three patients developed cardiac involvement during the follow-up period corresponding to a prevalence of 6% at baseline and an incidence of 6.8% within one year. Hydroxyindoleacetic acid (5-HIAA) was identified to predict the occurrence of CHD (OR, 1.004; 95% CI, 1.001–1.006 for increase of 5-HIAA), while chromogranin A (CgA), and Kiel antigen 67 (Ki 67%) had no predictive value. Six patients with CHD at twelve-month follow-up revealed a tendency for larger right heart diameters and increased values of myocardial performance index (MPEI) at baseline compared to NET patients. Conclusion The prevalence at baseline and one-year-incidence of CHD was 6–7%. 5-HIAA was identified as the only marker which predict the development of CHD. Graphical Abstract

Carcinoid tumours are neuroendocrine tumours associated with gastrointestinal tract, lungs and rarely seen in middle ear. A 29 year old male presented with nonspecific symptoms of blocking sensation, reduced hearing and tinnitus in the right ear. Otoscopy showed congestion of right tympanic membrane with bulge in anterior quadrant with no blanching on siegalization. Audiometry showing conductive hearing loss. CT scan showing mildly enhancing mass in the right middle ear cavity. Complete excision was done and Histopathological studied showed features favouring adenoma and immunohistochemistry showed positive staining of Pan Cytokeratin, Synaptophysis and Chromogranin A, with Ki-67 01% suggestive of carcinoid tumour. Patient underwent PET Scaning post operatively to rule out carcinoid tumour elsewhere in the body. Patient is on follow-up every month to look for any recurrence. [ABSTRACT FROM AUTHOR]

Small intestinal neuroendocrine tumours (SI-NETs) are the most common small intestinal tumours. A particularly challenging subset of these tumours is those that involve the superior mesenteric artery or vein for which the role and feasibility of surgery are often questioned. This systematic review aimed to identify and evaluate the management strategies used for these complex SI-NETs. The identified studies showed positive outcomes with surgery and multimodality therapy. [ABSTRACT FROM AUTHOR]

Background: Carcinoid heart disease (CHD) caused by neuroendocrine tumours (NET) is associated with an increased morbidity and mortality due to valvular dysfunction and right sided heart failure. The present study aimed to assess the prevalence and one-year-incidence of CHD in NET patients. Tumour characteristics, laboratory measurements, and echocardiographic findings were evaluated to identify predictors of CHD manifestation. Methods: The study was an investigator-initiated, monocentric, prospective trial. Patients with NET without previously diagnosed CHD were included and underwent comprehensive gastroenterological and oncological diagnostics. Echocardiographic examinations were performed at baseline and after one year. Results: Forty-seven NET patients were enrolled into the study, 64% of them showed clinical features of a carcinoid syndrome (CS). Three patients presented with CHD at baseline and three patients developed cardiac involvement during the follow-up period corresponding to a prevalence of 6% at baseline and an incidence of 6.8% within one year. Hydroxyindoleacetic acid (5-HIAA) was identified to predict the occurrence of CHD (OR, 1.004; 95% CI, 1.001–1.006 for increase of 5-HIAA), while chromogranin A (CgA), and Kiel antigen 67 (Ki 67%) had no predictive value. Six patients with CHD at twelve-month follow-up revealed a tendency for larger right heart diameters and increased values of myocardial performance index (MPEI) at baseline compared to NET patients. Conclusion: The prevalence at baseline and one-year-incidence of CHD was 6–7%. 5-HIAA was identified as the only marker which predict the development of CHD. [ABSTRACT FROM AUTHOR]

Neuroendocrine tumours of bronchial origin account for ~1%-2%. They can be typical or atypical in nature and are likely to be endobronchial in growth. We report a case of a 37-year-old woman with a carcinoid tumour in the bronchus intermedius with a background of aberrant bronchial anatomy. The tumour was removed by sleeve resection and histopathology confirmed a typical carcinoid tumour. This report describes successful surgical management of this carcinoid tumour despite aberrant bronchial anatomy., Competing Interests: None declared., (Published by Oxford University Press and JSCR Publishing Ltd. © The Author(s) 2024.)

Introduction. The objective of the study was to determine the incidence of neuroendocrine tumours in patients undergoing appendectomy because of acute appendicitis and to investigate the treatment and follow-up of these tumours. Materials and methods. The data of 6592 patients who were operated for acute appendicitis in two different health centers, between January 2012 and May 2020, were obtained from an electronic database. Fourteen patients with neuroendocrine pathologies were included in the study. Results. Of the 6592 patients undergoing appendectomy, 14 had neuroendocrine tumours. Of these 14 patients, six were male and eight were female. The mean age of the patients was 36.71 years. Six of the tumours were distal, seven were medial and one was in the appendix radix. The mean tumour size was 1.17 cm. Right hemicolectomy was performed in two patients with appendix radix tumours (2 cm in size) and the remaining 12 patients underwent appendectomy. The mean follow-up duration was 36.4 months. Conclusions. The pathologies of the patients who undergo appendectomy for acute appendicitis should be closely monitored, cases with neuroendocrine tumours should be reevaluated, and treatment and follow-up of these cases should be done based on the tumour characteristics.

Neuroendocrine neoplasms (NENs) are a heterogeneous group of rare tumours derived from peptidergic neurons and specialized neuroendocrine cells capable of secreting various peptides or amines. These cells may be present in endocrine tissue or diffused in the tissues of the digestive or respiratory system. The article reviews the characteristic features of NENs, with particular emphasis on skin manifestations, such as necrolytic migratory erythema (NME), tongue inflammation, angular cheilitis, venous thrombosis and alopecia in glucagonoma; "flushing", "lion face", pellagra skin symptoms, "scleroderma-like features without Raynaud's phenomenon" in carcinoid tumours. The paper also presents the clinical picture of the neuroendocrine tumour of the skin - Merkel cell carcinoma. The aim of this study was to draw attention to the need for precise and comprehensive diagnosis of the patients, with particular emphasis on skin lesions as a revelator of neuroendocrine tumours. This management allows for the early implementation of appropriate treatment. [ABSTRACT FROM AUTHOR]

Objective: Ovarian neuroendocrine neoplasm is a rare and highly heterogeneous neoplasm. This study is aimed to describe its demographic and clinicopathological features and identify its prognostic factors. Methods: Clinical data of 399 patients diagnosed with ovarian neuroendocrine neoplasms between 2004 and 2016 in the Surveillance, Epidemiology, and End Results (SEER) database were analysed retrospectively. Survival curves were drawn using the Kaplan–Meier method, comparisons among different subgroups were evaluated using log-rank tests, and multivariate Cox regression analyses identified independent prognostic factors. Results: The five-year survival rates of patients with different histological types (carcinoid tumour, neuroendocrine carcinoma and special type of carcinoid tumour) were 25.5%, 96.1% and 75.0%, respectively (P < 0.001). Multivariate Cox analysis revealed that in carcinoid tumours, advanced FIGO stage was the only predictor. Additionally, no significant difference was observed among stages II, III and IV using the log-rank test. In neuroendocrine carcinoma, an advanced FIGO stage and high-grade differentiation were risk factors, while chemotherapy was a protective factor. Among all ovarian neuroendocrine neoplasms with a known histological differentiation status, no significant difference was observed among different histological types; only high-grade differentiation was an independent risk factor, and chemotherapy was a protective factor. Conclusions: Patients with neuroendocrine carcinomas and carcinoid tumours of an advanced FIGO stage have a poor prognosis. Poor differentiation of neuroendocrine carcinomas indicates a short survival time, and adjuvant chemotherapy appears to be effective. Histological differentiation of ovarian neuroendocrine neoplasms is the most potent prognostic factor comparing to other known factors. Taken together, ovarian neuroendocrine neoplasms might be better classified as low- or high-grade ones rather than the currently used classification based on histological types in the future. [ABSTRACT FROM AUTHOR]

Meckel's diverticulum, a true diverticulum originating from the incomplete closure of the vitelline duct during embryologic development, rarely presents with carcinoid tumors. The coexistence of a Meckel's diverticulum and carcinoid tumor following laparoscopic sigmoid colectomy for diverticulitis is an uncommon phenomenon, with limited documented cases in the literature. We present a case of a 74-year-old male with a past medical history of hypertension and diverticulitis who underwent a laparoscopic sigmoid colectomy for dysplastic and cancerous changes of a polyp revealed during a screening colonoscopy. Initially, the patient's postoperative journey was uneventful with the resumption of regular bowel movements and favorable diet progression. However, he later presented to the emergency department for worsening abdominal pain and distension. Imaging prompted surgical intervention due to perforation and obstruction, resulting in the identification of a carcinoid tumor within a perforated Meckel's diverticulum. This case highlights the intricate challenges of postoperative complications, particularly the unexpected emergence of Meckel's diverticulum pathology following a colectomy. The atypical presentation, featuring a carcinoid tumor within a perforated Meckel's diverticulum, underscores the importance of evaluating abdominal symptoms postoperatively., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Ranjbar et al.)

Purpose: Neuroendocrine neoplasia (NEN) of the thymus is a very rare entity with a poor prognosis. None of the treatments was proofed by studies. Usually, therapy protocols for bronchopulmonary carcinoids are used. So far no data exist on the effect of mammalian target of rapamycin (mTOR) inhibitors. We describe our long‐term experience with everolimus and give a thorough review of the therapeutic strategies used so far. Patients and Methods: Four patients (mean age 46 years, range 37–55) with progressing thymic NEN (t‐NEN) (two well‐differentiated atypical carcinoids and two atypical carcinoids with large cell characteristics) were treated with everolimus 10 mg/day after the failure of at least one previous medical therapy. Everolimus was applied after a mean interval of 32.4 months (range 5–56) after the first diagnosis. The follow‐up included clinical examination, imaging and chromogranin A testing in 3 or 6 monthly intervals. Results: We observed stable disease for a mean of 20.8 months. Both patients with large cell characteristics t‐NEN (Ki‐67 of 20%) had rapid progress after 7 and 10 months and had more previous therapies (three and six) than the patients with well‐differentiated t‐NEN (Ki‐67 5% and 10%, progress after 24 and 42 months, one and two previous therapies). No severe side effects occurred. In three of four patients, everolimus led to stable disease for the longest compared to the other nonsurgical therapies used. Conclusion: Comparing the sparse data available everolimus is a promising treatment for t‐NEN at least in second‐line therapy. A low Ki‐67 index was associated with a better outcome. [ABSTRACT FROM AUTHOR]

Abstract Rare cases of co‐existing sarcoidosis and carcinoid tumour have been previously reported in the literature. Both diseases may have vague and overlapping clinical presentations that can lead to delayed or missed diagnosis. To avoid this diagnostic pitfall, we discuss and compare the clinical presentations of all reported cases in the literature including our case. We also provide hypothesis to explain the relationship between the two diseases.

The rapid evolution of novel, costly therapies for neuroendocrine neoplasia (NEN) warrants formal high-quality cost-effectiveness evaluation. Costs of individual investigations and therapies are high; and examples are presented. We aimed to review the last ten years of standalone health economic evaluations in NEN. Comparing to published standards, EMBASE, Cochrane library, Database of Abstracts of Reviews of Effects (DARE), NHS Economic Evaluation Database and the Health Technology Assessment (HTA) Database were searched for health economic evaluations (HEEs) in NEN published between 2010 and October 2019. Of 12 economic evaluations, 11 considered exclusively pharmacological treatment (3 studies of SSAs, 7 studies of sunitinib, everolimus and/or 177Lu-DOTATATE and 1 study of telotristat ethyl) and 1 compared surgery with intraarterial therapy. 7 studies of pharmacological treatment had placebo or best supportive care as the only comparator. There remains a paucity of economic evaluations in NEN with the majority industry funded. Most HEEs reviewed did not meet published health economic criteria used to assess quality. Lack of cost data collected from patient populations remains a significant factor in HEEs where clinical expert opinion is still often substituted. Further research utilizing high-quality effectiveness data and rigorous applied health economic analysis is needed. [ABSTRACT FROM AUTHOR]

Rare cases of co‐existing sarcoidosis and carcinoid tumour have been previously reported in the literature. Both diseases may have vague and overlapping clinical presentations that can lead to delayed or missed diagnosis. To avoid this diagnostic pitfall, we discuss and compare the clinical presentations of all reported cases in the literature including our case. We also provide hypothesis to explain the relationship between the two diseases. [ABSTRACT FROM AUTHOR]

Introduction: The efficacy of 177Lu-Dotatate was shown in the NETTER-1 trial, an international, open-label, multicentre phase III clinical trial that evaluated the safety and efficacy of 177Lu-Dotatate in patients with well-differentiated, advanced midgut neuroendocrine tumours (NETs) with evidence of disease progression. Recently, retreatment with peptide receptor radionuclide therapy (PRRT) has been proposed as a valid therapeutic option in patients without other effective options who had responded to initial PRRT; however, data on this therapeutic option are still inadequate. Case Report: In this report, we present the case of a patient who achieved a delayed complete radiological response after initial 177Lu-Dotatate treatment and who had a complete tumour response with PRRT retreatment 5 years later. Conclusions: This case report shows that, although rare, a complete, prolonged tumour response may occur in patients with advanced small-bowel NETs receiving PRRT. Retreatment with PRRT may be a valid option in cases of subsequent disease recurrence. [ABSTRACT FROM AUTHOR]

177Lu‐Dotatate treatment is indicated for progressive, well‐differentiated, small bowel neuroendocrine tumours) NETs. These tumours often metastasise to mesenteric lymph nodes and produce a desmoplastic reaction, consisting of tumour cells interspersed with fibrotic tissue. We hypothesised that, in patients treated with 177Lu‐Dotatate, mesenteric tumours would remain stable even as liver tumour size changes were observed. We retrospectively reviewed the records of all patients treated with 177Lu‐Dotatate between April 2018 and December 2019. Among patients with desmoplastic mesenteric tumours and liver metastases, we evaluated changes in tumour size of mesenteric and liver lesions based on pre‐ and post‐treatment anatomic scans. As a result of the infrequency of objective radiographic response, any reported changes in tumour size were considered significant. Twenty‐one patients met the inclusion criteria: nine had evidence of shrinkage of liver lesion(s), one had mild progression of liver lesions, seven had stable hepatic disease and four had a mixed hepatic response. Two of the patients with hepatic tumour shrinkage met the criteria for a partial response via RECIST 1.1 (https://recist.eortc.org). Desmoplastic mesenteric lesions remained unchanged in size, regardless of the changes detected in liver lesions. In conclusion, 177Lu‐Dotatate does not impact desmoplastic mesenteric tumours which are typically associated with midgut NETs. Patients whose disease is predominantly confined to desmoplastic mesenteric lesions are unlikely to respond radiographically to peptide receptor radionuclide therapy. Moreover, the inclusion of desmoplastic mesenteric lesions as target lesions in RECIST measurements tends to increase rates of disease stability vs response or progression. [ABSTRACT FROM AUTHOR]

Key message We describe a patient with incidental endobronchial synchronous hamartoma and typical carcinoid with different management strategy.

Aim: The current standard of care for clinically node‐negative carcinoid tumours of the appendix < 2.0 cm in size is appendectomy alone. The aim of this analysis was to evaluate the prevalence of pathological nodal positivity in clinically node‐negative appendiceal tumour specimens < 2.0 cm and quantify the impact of occult pathological nodal positivity on overall survival following resection. Method: A retrospective database review of the 2019 US National Cancer Database for appendiceal cancer identified 2007 cases of clinically node‐negative appendiceal carcinoid tumours based on SEER histology codes 8240, 8241, 8242, 8243, 8243, 8244, 8245, 8246 and 8249. Kaplan–Meier with log‐rank testing and multivariate Cox regression analysis evaluated the impact of occult nodal positivity on overall survival following resection for clinically node‐negative appendiceal carcinoma. Results: The prevalence of occult nodal positivity increased from 1.9% for sub‐centimetre tumours to 7% for tumours between 1.0 and 1.5 cm, 16.5% for tumours between 1.5 and 2.0 cm and to >29.5% for tumours > 2.0 cm. Rates of metastatic spread were similar for tumours < 2.0 cm but increased for larger tumours. Over two‐thirds of patients received a segmental colectomy as definitive surgical therapy. After controlling for differences in cohorts, multivariate analysis showed an increased hazard ratio for mortality of 162% (HR 2.62, CI 1.884–3.541) for patients with pathological node‐positive disease. Conclusion: Clinically node‐negative carcinoid tumours of the appendix bigger than 1.5 cm have an increased rate of occult nodal spread which has a negative impact on overall survival. [ABSTRACT FROM AUTHOR]

Metastasis of a neuroendocrine tumour (NET) to the orbit is a rare occurrence, with published data limited to a few case reports. Orbital involvement usually presents with proptosis and decreased ocular mobility. Timing, in relation to the presentation of the primary tumour (PT), varies. The authors report a case of a 58-year-old female whose clinical presentation of orbital metastases preceded clinical suspicion of a midgut NET. Her presentation was with severe headaches and bilateral ptosis, histologically proven to be due to orbital muscle infiltration. The PT location was determined from the histopathological markers on orbital muscle biopsy, which suggested a gastrointestinal origin. Abdominal computed tomography (CT) was in keeping with a midgut NET with features characteristic of a desmoplastic reaction. Additional CT findings were widespread metastases, corroborated by nuclear imaging. The patient developed carcinoid syndrome and subsequently underwent surgical resection of the PT due to acute bowel obstruction. Her carcinoid symptoms and ocular findings improved on continued somatostatin receptor analogue therapy, but she sadly died within one month following surgery. [ABSTRACT FROM AUTHOR]

Background: Pulmonary carcinoids (PCs) represent only a minority of all primary pulmonary malignancies but they are the most common type of pulmonary malignancy diagnosed in children and adolescents. In this nationwide study, we analyzed data on all PC tumours in the Icelandic population over a 60-year period and concentrated especially on incidence and patient outcomes. Methods: We studied all cases of PCs diagnosed in Iceland in the period 1955‒2015. Histological specimens were re-evaluated and the tumours were staged according to the TNM system (seventh edition). Survival was estimated using the Kaplan–Meier method, with a mean follow-up of 15.7 years. Results: Altogether, 88 patients (median age 51.0 years, 65.9% women) were diagnosed with PCs in the study period. The incidence increased from 0.19/100,000/year in the first decade (1955‒1964) to 0.58/100,000/year in the last decade (2005‒2015), with a mean increase of 29.0% per decade of the study period (p < 0.001). The rise in incidental detection was, however, not significant. The median tumour diameter was 2.2 cm (range 0.4‒7.0) and typical histology was seen in 74 patients (84.1%). The other 14 patients (15.9%) had atypical histology. In all, 90.9% of the patients underwent pulmonary resection, 81.2% of them with lobectomy, with all of them surviving at least 30 days postoperatively. Most patients (n = 52, 62.7%) were stage IA at diagnosis, 15 (18.1%) were stage IB, nine (10.8%) were stage IIA, and three were stage IIIA (3.6%). Four patients (4.8%) had distant metastases (stage IV), two of whom had typical histology. Five-year survival was 89.8% for all patients: 93.2% for patients with typical histology and 70.7% for those with atypical histology. Conclusion: The incidence of PCs in Iceland has increased significantly over the last six decades, which cannot be explained by a rise in incidental detection at chest imaging. Most patients have localized disease and a favourable histology, where the long-term outcome is excellent. [ABSTRACT FROM AUTHOR]

Copyright of Der Gastroenterologe is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Little is known about the epidemiology of digestive neuroendocrine tumours (NETs). NETs remain a rare cancer, representing 1% of all digestive cancers. In France, incidence rates are estimated to around 1.1/100,000 inhabitants in males and 0.9/100,000 in females. The incidence rates got increased over time, with probably more than 1,000 new cases per year in France. Because of their relatively good prognosis, NETs are the second more prevalent digestive cancer after colorectal cancer. Most digestive NETs are well-differentiated (WDNETs); poorly differentiated neuroendocrine carcinomas (PDNEC) account for less than 20% of the cases in most of the series. Among bowel-NETs, the most frequent anatomical localisations are colorectal and small bowel. Functional NETs are rare (<20%); most of them are carcinoids, insulinomas and gastrinomas. More than half NETs are metastatic at diagnosis, mainly in the liver. Tumour differentiation, histologic grade, anatomic site and stage are the main prognostic factors. WDNETs are slow-growing tumours (relative survival of 55% at 5 years), whereas PDNEC are highly aggressive (relative survival of 4.5% at 5 years). [ABSTRACT FROM AUTHOR]

Intramedullary spinal cord metastases (ISCMs) are infrequent lesions. Their incidence is estimated to range from 0.9 to 2.1%, found in autopsies of cancer patients. However, as the life expectancy of malignant tumour patients constantly increases, the reported incidences of ISCMs are consequently rising. This report presents a case of the misdiagnosis of an anaplastic astrocytoma type of tumour due to its similarities to small-cell neuroendocrine carcinoma. Therefore, we would like to underline the importance of further investigation that could assist and support the surgeon in the making of the differential diagnosis. We present the clinical case of a 73-year-old woman with a solitary intramedullary spinal cord metastasis as the initial manifestation of a carcinoid type of tumour. The patient was admitted to our department while presenting a rapid onset of paraparesis. Magnetic resonance imaging was performed, which showed an intramedullary mass at the C2–C6 vertebral level with a heterogeneous contrast enhancement. In light of these findings, the patient underwent surgery for a partial tumour resection. The lesion resulted in being a small-cell neuroendocrine type of carcinoma. This peculiar type of tumour presents similar radiological characteristics to the anaplastic astrocytoma type, which is why our diagnostical mismatch occurred. This is the report of a rare case of solitary intramedullary spinal cord metastasis, which is the result of an initial presentation of a lung small-cell neuroendocrine type of carcinoma. We conclude that ISCMs should be regularly considered as a part of the differential diagnosis of intramedullary lesions, especially in the case of a rapid onset and deterioration of neurological symptoms.

Abstract Objective Age‐standardized incidence of female breast cancer is 145.1 per 100000/year and 5.86 per 100000/year for neuroendocrine tumours (NET) in Canada. Evidence is scarce about gene variants that may predispose patients to develop both neoplasms. The objective of this study was to identify germline gene variants associated with this combination of tumours. Design and patients A retrospective chart review (2007‐2018) in a tertiary NET referral centre was completed. A series of 9 female patients with concurrent breast cancer and NET is presented. All patients underwent a 37 gene hereditary cancer next‐generation sequencing panel. Results Mean age was 61.4 years (35‐85) at breast cancer diagnosis and 63.4 years (51‐89) at NET diagnosis. Four patients had a pancreatic, three had a small bowel and two had a lung NET. Two patients were known cases of MEN1, and one patient was found to harbour a pathogenic variant in MEN1 and a variant of unknown significance (VUS) in ATM. A second patient was found to harbour a pathogenic variant in APC. A third patient was found to carry a pathogenic variant in PALB2 as well as a VUS in FANCM, MLH1 and STK11. Another patient was found to harbour a VUS in MSH2. One patient was found to carry a pathogenic variant in NTHL1. Conclusion The first cases of a PALB2, an APC and a NTHL1 pathogenic variants in patients with both breast cancer and NET were presented. NGS testing should be considered in specific patients with this combination of neoplasms, as certain germline variants beyond MEN1, have important implications for cancer surveillance.

• Tumour type was the single most potent prognostic factor for survival in BP-NETs. • FDG-PET scans were mostly positive in all three subtypes of BP-NETs. • LCNEC presented with the lowest 1, 2 and 5 year survival rates. Bronchopulmonary neuroendocrine tumours are divided into typical carcinoid (TC), atypical carcinoid (AC), large cell neuroendocrine carcinoma (LCNEC), and small cell lung cancer (SCLC). To thoroughly describe a cohort of 252 patients with TC, AC and LCNEC (SCLC excluded). Collection of data from 252 patients referred to and treated at Rigshospitalet 2008-2016. Data was collected from electronic patient files and our prospective NET database. Statistics were performed in SPSS. 162 (64%) had TC, 29 (12%) had AC and 61 (24%) had LCNEC. Median age at diagnosis was 69 years (range: 19–89) with no difference between genders. Thoraco-abdominal CT was performed in all patients at diagnosis. FDG-PET/CT was performed in 207 (82%) at diagnosis and was positive in 95% of the entire cohort, with no difference between tumour types. Synaptophysin was positive in 98%, chromogranin A in 92% and CD56 in 97%. Mean Ki67 index was 5% in TC, 16% in AC and 69% in LCNEC (p < 0.001). Metastatic disease was found in 4% of TC, 27% of AC and 58% of LCNEC at time of initial diagnosis (p < 0.001). In total 179 patients (71%) underwent surgical resection; TC: 87%, AC: 72% and LCNEC: 28% (p < 0.001). Of the resected patients, 11 (6%) had recurrence. Five-year survival rate was 88% for TC, 63% for AC and 20% for LCNEC. In this comprehensive study of a cohort of 252 patients, one of the largest until date, with TC, AC and LCNEC, the gender distribution showed female predominance with 68%. FDG-PET/CT was positive in 95% of the patients independent of tumour type, which confirms that FDG-PET/CT should be a part of the preoperative work-up for TC, AC and LCNEC. Tumour type was the single most potent independent prognostic factor. [ABSTRACT FROM AUTHOR]

Lung carcinoid tumours are rare neoplasms with a favourable prognosis. Bronchoplasty can be a conservative treatment for typical carcinoid tumours and can be applied for patients with limited respiratory function. We report the case of a 34‐year‐old woman, with a polypoid tumour located at the distal right main bronchus. Bronchial biopsy showed a typical carcinoid tumour. After resection of the tumour in the right main bronchus, bronchoplasty was performed by end‐to‐end anastomosis of the remaining right main bronchus, right upper lobar bronchus, and the upper bronchus intermedius. Bronchoscopy showed a good quality anastomosis with slightly reduced endoluminal calibre only. The post‐operative period was uneventful and the patient was discharged at the seventh day. One year later, no complications occurred and the patient is still being followed up regularly. [ABSTRACT FROM AUTHOR]

Bronchial carcinoids are uncommon, slow growing; low-grade malignant neoplasms of the lungs, which rarely metastasize outside the thoracic cavity. We hereby report a case of atypical intra-bronchial carcinoid tumour of the lung in a young female which was treated successfully with surgery and chemotherapy.

Key message: We describe a patient with incidental endobronchial synchronous hamartoma and typical carcinoid with different management strategy. [ABSTRACT FROM AUTHOR]

Neuroendocrine tumours are rare neoplasms typically arising in the gastrointestinal tract that may result in carcinoid syndrome and/or acquired valvular dysfunction. Herein, we present a unique case of a 68-year-old asymptomatic woman with a primary left ventricular neuroendocrine tumour. [ABSTRACT FROM AUTHOR]

Introduction: Knowledge about oesophageal carcinoids is based primarily on case reports, and therefore information about them is incomplete. Aim: To collect information on oesophageal carcinoid tumours in a systematic review study. Material and methods: Databases including PubMed, Scopus, and Web of Science were searched for the characteristics of oesophageal carcinoid tumour. Studies included original articles, case series, or case reports, reporting at least one of the characteristics of benign carcinoid tumour or carcinoid tumour. Results: Out of 670 studies searched, after evaluation and excluding non-relevant studies, 14 studies were included and analysed in the systematic review. These studies included 19 patients with carcinoid tumour of whom 57.9% were males with a mean age of 55.5 years. Dysphagia and weight loss were the most prevalent symptoms and signs in the patients. Lower oesophagus was the most prevalent site of tumour. Conclusions: This meta-analysis showed that the mean age at diagnosis of oesophageal carcinoid was around 55 years, with 1.4 times greater prevalence among males, and located mainly in the distal oesophagus. The mean tumour size was 2.4 cm. The main symptoms and signs of this disease were dysphagia, weight loss, and reflux. The tumour behaviour was mainly non-aggressive except for cases associated with adenocarcinoma. [ABSTRACT FROM AUTHOR]