scholarly journals Gastrointestinal neuroendocrine neoplasms (GI-NENs): hot topics in morphological, functional, and prognostic imaging

Author(s):  
Ginevra Danti ◽  
Federica Flammia ◽  
Benedetta Matteuzzi ◽  
Diletta Cozzi ◽  
Valentina Berti ◽  
...  

AbstractNeuroendocrine neoplasms (NENs) are heterogeneous tumours with a common phenotype descended from the diffuse endocrine system. NENs are found nearly anywhere in the body but the most frequent location is the gastrointestinal tract. Gastrointestinal neuroendocrine neoplasms (GI-NENs) are rather uncommon, representing around 2% of all gastrointestinal tumours and 20–30% of all primary neoplasms of the small bowel. GI-NENs have various clinical manifestations due to the different substances they can produce; some of these tumours appear to be associated with familial syndromes, such as multiple endocrine neoplasm and neurofibromatosis type 1. The current WHO classification (2019) divides NENs into three major categories: well-differentiated NENs, poorly differentiated NENs, and mixed neuroendocrine-non-neuroendocrine neoplasms. The diagnosis, localization, and staging of GI-NENs include morphology and functional imaging, above all contrast-enhanced computed tomography (CECT), and in the field of nuclear medicine imaging, a key role is played by 68Ga-labelled-somatostatin analogues (68Ga-DOTA-peptides) positron emission tomography/computed tomography (PET/TC). In this review of recent literature, we described the objectives of morphological/functional imaging and potential future possibilities of prognostic imaging in the assessment of GI-NENs.

2004 ◽  
Vol 8 (5) ◽  
pp. 353-356
Author(s):  
Fara P. Redlick ◽  
James C. Shaw

Background: Segmental neurofibromatosis type 1 (NF-1) has the characteristic features of generalized NF-1 but is isolated to a particular segment of the body. Segmental NF-1 results from a postzygotic mutation during embryogenesis in the NF-1 gene on chromosome 17. The embryologic timing of the mutation and cell types affected predict the clinical phenotype. Objective: We present a case of a 52-year-old woman with segmental neurofibromas isolated to the right cheek and neck. We review the recent literature on the genetic and cellular differences between the various clinical manifestations of segmental NF-1. Methods: A MEDLINE search for cases of segmental neurofibromatosis was conducted. Results: In patients with segmental NF-1 presenting as neurofibromas-only, the distribution follows a neural distribution in dermatomes because the genetic mutation appears to be limited to Schwann cells. In patients with pigmentary changes only, the NF-1 mutation has been shown to occur in fibroblasts and the distribution tends to follow the lines of Blaschko. Conclusion: Our patient's neurofibromas were secondary to a postzygotic mutation in the NF-1 gene of neural crest–derived cells. This mutation most likely occurred later in embryogenesis in cells that had already differentiated to Schwann cells and were committed to the dermatomal distribution of the right neck and cheek region (C2).


2018 ◽  
Vol 185 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Yusuke Inoue ◽  
Kazunori Nagahara ◽  
Hiroko Kudo ◽  
Hiroyasu Itoh

Abstract We performed phantom experiments to investigate radiation dose in the computed tomography component of oncology positron emission tomography/computed tomography in relation to the scan range. Computed tomography images of an anthropomorphic whole-body phantom were obtained from the head top to the feet, from the head top to the proximal thigh or from the skull base to the proximal thigh. Automatic exposure control using the posteroanterior and lateral scout images offered reasonable tube current modulation corresponding to the body thickness. However, when the posteroanterior scout alone was used, unexpectedly high current was applied in the head and upper chest. When effective dose was calculated on a region-by-region basis, it did not differ greatly irrespective of the scan range. In contrary, when effective dose was estimated simply by multiplying the scanner-derived dose-length product by a single conversion factor, estimates increased definitely with the scan range, indicating severe overestimation in whole-body imaging.


Vascular ◽  
2014 ◽  
Vol 23 (5) ◽  
pp. 542-544
Author(s):  
Matthew J Seager ◽  
Brahman Dharmarajah ◽  
Emma B Davies ◽  
Alun H Davies ◽  
Ian J Franklin

Carotid patch infection following carotid patch angioplasty is a rare but serious complication. Accurate diagnosis is vital yet currently ill-defined. We present the use of computed tomography positron emission tomography and leucocyte radioisotope scintigraphy and highlight their potential role in the diagnosis of equivocal carotid patch infection.


PLoS ONE ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. e0241096
Author(s):  
Beatriz Barreto-Duarte ◽  
Fabiana H. Andrade-Gomes ◽  
María B. Arriaga ◽  
Mariana Araújo-Pereira ◽  
Juan Manuel Cubillos-Angulo ◽  
...  

Background Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease that affects one in every 3000 individuals. This disease can present a wide range of clinical manifestations, ranging from skin abnormalities to severe vascular damage. Although not commonly recognized in the context of NF-1, cerebrovascular disease (CVD), can be often present since childhood and diagnosed just later in life. When present, NF-1-associated CVD clinical manifestations may include headache, cognitive deficits and ultimately aneurysm rupture, causing death. Thus, CVD plays an important role in the clinical manifestations, disease severity and prognosis of patients with NF-1. This systematic review aims to summarize the body of evidence linking NF-1 and CVD in children. Methods Two independent investigators performed a systematic review on the PubMed and EMBASE search platforms, using the following key terms: “neurofibromatosis type 1”, “Von Recklinghausen’s disease”, "children", "adolescents", "stroke", "Moyamoya disease", "vascular diseases", "cerebrovascular disorders", "aneurysm" and "congenital abnormalities". Studies focused on assessing the development of CVD in children with NF-1 were included. Results Seven studies met the inclusion criteria. Twelve different clinical manifestations have been associated with cerebrovascular changes in children with NF-1; 44,5% of diagnosed patients were asymptomatic. Conclusion The available evidence suggests that CVDs are related with the progression of NF-1, even in the absence of a clear clinical manifestation. In addition, improved prognosis was observed when imaging tests were performed to screen for cerebrovascular alterations early during the clinical investigation. Early diagnosis of CVD in NF-1 patients foster implementation of timely interventions, directly impacting clinical outcomes.


2019 ◽  
Vol 28 (152) ◽  
pp. 180111 ◽  
Author(s):  
Gregory G. King ◽  
Catherine E. Farrow ◽  
David G. Chapman

Asthma remains an important disease worldwide, causing high burden to patients and healthcare systems and presenting a need for better management and ultimately prevention and cure. Asthma is a very heterogeneous condition, with many different pathophysiological processes. Better measurement of those pathophysiological processes are needed to better phenotype disease, and to go beyond the current, highly limited measurements that are currently used: spirometry and symptoms. Sophisticated three-dimensional lung imaging using computed tomography and ventilation imaging (single photon emission computed tomography and positron emission tomography) and magnetic resonance imaging and methods of lung imaging applicable to asthma research are now highly developed. The body of current evidence suggests that abnormalities in structure and ventilatory function measured by imaging are clinically relevant, given their associations with disease severity, exacerbation risk and airflow obstruction. Therefore, lung imaging is ready for more widespread use in clinical trials and to become part of routine clinical assessment of asthma.


2010 ◽  
Vol 6 (2) ◽  
pp. 59
Author(s):  
Ioannis Ilias ◽  
Karel Pacak ◽  
◽  

Digestive neuroendocrine tumours (carcinoids) derive from serotonin-producing enterochromaffin cells. Biochemical screening (and follow-up) is performed with measurements of 5-hydroxyindoloacetic acid in urine. Other markers are also useful. Most digestive neuroendocrine tumours are better localised with functional imaging, i.e. nuclear medicine, compared with other modalities. The treatment of choice is surgical; non-resectable tumours are treated with somatostatin analogues (unlabelled and for more advanced disease radiolabelled) or chemotherapy. Most pheochromocytomas/paragangliomas are sporadic, however, and genetically caused tumours are much more common than previously thought. Biochemical proof of disease is best carried out with measurement of plasma metadrenaline. Imaging with computed tomography or magnetic resonance imaging (MRI) should be followed by functional imaging. Chromaffin tumour-specific methods are preferred.18F-fluoro-deoxyglucose positron emission tomography (18F-DOPA PET) should be used in patients with succinate-dehydrogenase-B-related metastatic pheochromocytoma/paraganglioma.18F-DOPA PET may become a modality of choice for the localisation of head and neck paragangliomas. If possible, treatment is surgical. For non-operable disease, other options are available and new drugs are under investigation or in clinical trials.


2020 ◽  
Vol 4 (11) ◽  
Author(s):  
Michelle D Lundholm ◽  
Caroline Poku ◽  
Nicholas Emanuele ◽  
Mary Ann Emanuele ◽  
Norma Lopez

Abstract As SARS-CoV-2 (COVID-19) overtakes the world, causing moderate to severe disease in about 15% of infected patients, COVID-19 is also found to have widespread effects throughout the body with a myriad of clinical manifestations including the endocrine system. This manuscript reviews what is known about the impact of COVID-19 on the pathophysiology and management of diabetes (both outpatient and inpatient) as well as pituitary, adrenal, thyroid, bone, and gonadal function. Findings in this area are evolving, and long-term effects of infection remain an active area of further research.


2018 ◽  
Vol 128 (3) ◽  
pp. 107-110
Author(s):  
Anna Maria Dąbrowska ◽  
Agnieszka Zwolak

Abstract Introduction. Neurofibromatosis type 1 (NF1), caused by mutation of the tumour-suppressor gene encoding neurofibromin, is an autosomal dominant disorder affecting various organs. Aim. The aim of the study was to discuss the clinical symptoms of NF1 based on seven cases of the disease with regard to the literature. Material and methods. We analyzed retrospectively patients with NF1 (4 females and 3 males) aged 19-52 who were treated at Endocrinology Department between 2003 and 2017. The diagnosis was made in childhood (4 patients) or in adolescence (3 cases), based on clinical symptoms and genetic tests. Results. Five patients had a positive family history of NF1, two cases represented spontaneous mutation. All of analyzed subjects presented café-au-lait spots and neurofibromas on the body. We observed neurological disorders such as: epilepsy (2 patients), Arnold-Chiari malformation (1 man), benign brain neoplasms (2 persons). Optic gliomas appeared in two cases. Tumours were also found in other organs, including the uterus (2 women), the lung, the adrenals, the pituitary and the parathyroid gland (with signs of primary hyperparathyroidism) – each tumour in another patient. Four subjects suffered from cognitive impairment. Skeletal manifestations of neurofibromatosis type 1 such as scoliosis (1 man) and short stature (6 patients) have been noted as well. Five patients presented thyroid disorders – hypothyroidism due to Hashimoto’s disease (4 patients), toxic nodular goiter (1 woman). Other clinical symptoms e.g. vitiligo, alopecia areata and coarctation of aorta have also been found. Conclusions. Variety of clinical symptoms causes that NF1 still remains a diagnostic and management challenge for many physicians. Therefore, multidisciplinary approach is needed to optimize patients’ treatment.


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