Multiple Endocrine Neoplasia Type 1: The Current Status of Disease Management.

BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic disease of autosomal dominant inheritance, with an estimated prevalence of 3-20/100 000. Its main feature is neuroendocrine neoplasia in the parathyroid glands, the endocrine pancreas, the duodenum, and the pituitary gland. In this article, we review the diagnostic and therapeutic options for MEN1-associated tumors. METHODS: We present an analysis and evaluation of retrospective case studies retrieved from PubMed, guidelines from Germany and abroad, and our own experience. RESULTS: The disease is caused by mutations in the MEN1 gene. Mutation carriers should participate in a regular, specialized screening program from their twenties onward. The early diagnosis and individualized treatment of MEN1-associated tumors can prevent the development of life-threatening hormonal syndromes and prolong the expected life span of MEN1 patients from 55 to 70 years, as well as improving their quality of life. Surgical treatment is based on the location, size, growth dynamics, and functional activity of the tumors. The evidence for treatment strategies is derived from retrospective studies only (level III evidence) and the optimal treatment is often a matter of debate. This is a further reason for treatment in specialized centers. CONCLUSION: MEN1 is a rare disease, and, consequently, the evidence base for its treatment is limited. Carriers of disease-causing mutations in the MEN1 gene should be cared for in specialized interdisciplinary centers, so that any appreciable tumor growth or hormonal activity can be detected early and organ-sparing treatment can be provided.

Differences in neonatal gastric tubes during insertion into a 3D model in relation to risk of potential perforation.

OBJECTIVES: Perforation of esophagus or stomach is a potential complication during and after insertion of a gastric tube in neonates. The aim of this study was to analyze different types of gastric tubes in a three-dimensional (3D) model of neonatal esophagus and stomach regarding potential perforations. METHODS: A 3D model of esophagus and stomach was created based on computed tomography data of a term neonate. Three types of gastric tubes were inserted into the 3D model, the localization was examined by radioscopy and the behavior, stiffness and manageability of each gastric tube was evaluated. RESULTS: Insertion of gastric tubes with higher stiffness was easier. The rates of correct localization differed significantly between the gastric tubes with the highest rate of correct localization in the softest tube (48.5%) and the lowest rate in the tube with the highest stiffness (21.2%). Additionally, the softest tube showed the lowest rate of localization of its tip at the stomach wall. CONCLUSIONS: The study illustrates differences between various types of gastric tubes regarding stiffness, behavior and resiliency. Softer gastric tubes may be beneficial. These differences may be relevant in neonatal care of very immature and very sick infants.

pTEVAR of an aorto-esophageal fistula in esophageal cancer: Case report and review of the literature.

An aorto-esophageal fistula (AEF) is a rare and life-threatening situation, associated with aneurysms, foreign bodies, infiltrating tumors, and radiotherapy. The ideal management is unclear. Open surgery of AEF has a high mortality and morbidity. Thoracic endovascular aortic repair (TEVAR) of an AEF is an effective and safe emergency treatment for these patients. We describe a case of AEF due to esophageal cancer successfully treated the first time by total percutaneous TEVAR (pTEVAR). A 70-year-old male patient presented with massive hematemesis at the emergency department. The patient had a known history of esophageal cancer previously treated by radiochemotherapy which was completed 3 days before. Emergency upper gastrointestinal endoscopy failed to stop the bleeding. Subsequent contrast-enhanced computed tomography revealed an aorto-esophageal fistula and emergency pTEVAR was performed. The bleeding stopped directly after stent graft placement and the patient was discharged after 10 days later. He died 3 months after pTEVAR from cancer progression. pTEVAR is an effective and safe treatment option for AEF. It can be applied as a first-line treatment and offers the potential to improve survival in the emergency setting.

Contrast-Enhanced Ultrasound for Evaluation of Pleural Effusion: A Pictorial Essay.

B-mode ultrasound (B-US) is the standard imaging modality to evaluate pleural effusion. The value of B-US for assessing the malignancy of a pleural effusion (PE) is limited. For this purpose, computed tomography (CT) and thoracoscopy are the methods of choice to evaluate an effusion. The aim of this Pictorial Essay is to demonstrate contrast-enhanced ultrasound (CEUS) as a method in addition to B-US and CT for the evaluation of PE taking into account the clinical background. The characteristic patterns of pleural pathologies, effusion morphology, and associated lung parenchymal consolidations are presented.

Two giant retroperitoneal schwannomas mimicking adrenal malignancy - a case report.

Schwannomas are benign tumors in 95% of cases and very rarely occur in the retroperitoneum. We report the cases of a 35-year-old man with abdominal discomfort and a 50-year-old asymptomatic woman with large retroperitoneal masses. Both underwent multivisceral surgery to exclude an adrenal carcinoma, and the pathologic diagnosis showed schwannomas in both cases. Despite morphological imaging, it was not possible to get a clear diagnosis preoperatively.

Update Regarding Imaging of Neuroendocrine Neoplasms. / Update Bildgebung neuroendokrine Neoplasien.

BACKGROUND: Neuroendocrine neoplasms (NEN) are a heterogeneous group of tumors characterized by the expression of typical proteins. A wide range of morphological and functional imaging methods is required in order to adequately assess the course of the disease and to optimally treat the patient. The spectrum of indications ranges from the detection of small primary tumors to the documentation of the metastasis pattern and the assessment of the suitability for certain invasive or noninvasive therapy methods. The exact recording and quantification of findings is indispensable. METHODS: This article is based on a comprehensive literature search on the different aspects of neuroendocrine neoplasm imaging. RESULTS: This article is intended to provide an overview of the available imaging procedures with their respective advantages and disadvantages for diagnostics and their value for the follow-up of neuroendocrine neoplasms. Recommendations for examination protocols, typical image findings, and an outlook regarding future developments are presented. KEY POINTS: · Neuroendocrine neoplasms are relatively rare and represent a complex and multiform disease group. Even in metastatic disease, long-term progression-free survival is not uncommon.. · Diagnostics in neuroendocrine neoplasms use a wide range of complementary morphological and functional imaging methods.. · Adequate selection of the imaging method, examination planning and preparation of the patient are essential for exact staging and reliable follow-up.. CITATION FORMAT: · Figiel JH, Viniol SG, Görlach J et al. Update Regarding Imaging of Neuroendocrine Neoplasms. Fortschr Röntgenstr 2020; 192: 171 - 182.