Pancreatic neuroendocrine neoplasms: Updates on genomic changes in inherited tumour syndromes and sporadic tumours based on WHO classification

Ishida, Hirotaka; Lam, Alfred King‐Yin

doi:10.1016/j.critrevonc.2022.103648

Cited by 9 publications

(5 citation statements)

References 184 publications

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“…While NECs are aggressive, fast growing neoplasms that are usually sporadic [3], NETs are generally rather indolent, slowly growing neoplasms that produce peptide hormones or biogenic amines causing functional clinical syndromes, and can be associated with hereditary tumor syndromes [4], impacting on quality of life [5][6][7]. Among these predisposing genetic syndromes, some are associated with a limited spectrum of tumors, specifically localized in an organ or in the digestive tract, while others are associated with a very broad spectrum of neoplastic lesions, affecting either endocrine and non-endocrine organs [4,8,9].…”

Section: Introductionmentioning

confidence: 99%

Neuroendocrine neoplasms in the context of inherited tumor syndromes: a reappraisal focused on targeted therapies

Ruggeri

Benevento²,

Cicco³

et al. 2022

J Endocrinol Invest

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Purpose Neuroendocrine neoplasms can occur as part of inherited disorders, usually in the form of well-differentiated, slow-growing tumors (NET). The main predisposing syndromes include: multiple endocrine neoplasias type 1 (MEN1), associated with a large spectrum of gastroenteropancreatic and thoracic NETs, and type 4 (MEN4), associated with a wide tumour spectrum similar to that of MEN1; von Hippel-Lindau syndrome (VHL), tuberous sclerosis (TSC), and neurofibromatosis 1 (NF-1), associated with pancreatic NETs. In the present review, we propose a reappraisal of the genetic basis and clinical features of gastroenteropancreatic and thoracic NETs in the setting of inherited syndromes with a special focus on molecularly targeted therapies for these lesions. Methods Literature search was systematically performed through online databases, including MEDLINE (via PubMed), and Scopus using multiple keywords' combinations up to June 2022. Results Somatostatin analogues (SSAs) remain the mainstay of systemic treatment for NETs, and radiolabelled SSAs can be used for peptide-receptor radionuclide therapy for somatostatin receptor (SSTR)-positive NETs. Apart of these SSTR-targeted therapies, other targeted agents have been approved for NETs: the mTOR inhibitor everolimus for lung, gastroenteropatic and unknown origin NET, and sunitinib, an antiangiogenic tyrosine kinase inhibitor, for pancreatic NET. Novel targeted therapies with other antiangiogenic agents and immunotherapies have been also under evaluation. Conclusions Major advances in the understanding of genetic and epigenetic mechanisms of NET development in the context of inherited endocrine disorders have led to the recognition of molecular targetable alterations, providing a rationale for the implementation of treatments and development of novel targeted therapies.

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Section: Introductionmentioning

confidence: 99%

Neuroendocrine neoplasms in the context of inherited tumor syndromes: a reappraisal focused on targeted therapies

Ruggeri

Benevento²,

Cicco³

et al. 2022

J Endocrinol Invest

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“…Thus, the European Neuroendocrine Tumor Society (ENETS) suggests conservative follow-up for NF-PanNETs ≤ 2 cm, while surgical resection is advised for NF-PanNETs > 2 cm [ 30 ]. The DMSG suggests that surgical resection should be considered for NF-PanNETs ≥ 2 cm, those with increasing tumor size, as well as grade 2 (Ki67 > 3%) tumors or in the presence of suspicious lymph nodes [ 68 , 69 ]. There are still controversies regarding the extent of surgery as oncological resection should counterbalance the preservation of patients’ quality of life and the prevention of further progression or dissemination of the disease [ 6 , 30 ].…”

Section: Pancreatic Nets In Men1mentioning

confidence: 99%

Hereditary Syndromes Associated with Pancreatic and Lung Neuroendocrine Tumors

Papadopoulou-Marketou,

Tsoli,

Chatzellis

et al. 2024

Cancers

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Pancreatic neuroendocrine tumors (PanNETs) and lung NETs (LNETs) represent a rare but clinically significant subgroup of neoplasms. While the majority is sporadic, approximately 17% of PanNETs and a subset of LNETs develop in the context of monogenic familial tumor syndromes, especially multiple endocrine neoplasia type 1 (MEN1) syndrome. Other inherited syndromes associated with PanNETs include MEN4, von Hippel–Lindau (VHL) syndrome, neurofibromatosis type 1 (NF1), and tuberous sclerosis complex (TSC). These syndromes are highly penetrant and their clinical manifestations may vary even among members of the same family. They are attributed to genetic mutations involving key molecular pathways regulating cell growth, differentiation, and angiogenesis. Pancreatic NETs in hereditary syndromes are often multiple, develop at a younger age compared to sporadic tumors, and are associated with endocrine and nonendocrine tumors derived from multiple organs. Lung NETs are not as common as PanNETs and are mostly encountered in MEN1 syndrome and include typical and atypical lung carcinoids. Early detection of PanNETs and LNETs related to inherited syndromes is crucial, and specific follow-up protocols need to be employed to optimize diagnosis and management. Genetic screening is recommended in childhood, and diagnostic screening starts often in adolescence, even in asymptomatic mutation carriers. Optimal management and therapeutic decisions should be made in the context of a multidisciplinary team in specialized centers, whereas specific biomarkers aiming to identify patients denoted to follow a more aggressive course need to be developed.

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“…[75][76][77]79,81 Pancreatic neuroendocrine neoplasm (NEN) is the second most frequently diagnosed solid malignancy of the pancreas, with an increasing incidence in the last decade. 82,83 This malignancy exhibits variation in biological behavior (ie, from benignity to high aggressiveness). 82,83 Most studies have reported restricted tumor diffusion compared with healthy pancreatic parenchyma.…”

Section: Proton Density Fat Fractionmentioning

confidence: 99%

“…82,83 This malignancy exhibits variation in biological behavior (ie, from benignity to high aggressiveness). 82,83 Most studies have reported restricted tumor diffusion compared with healthy pancreatic parenchyma. [84][85][86][87][88] The ADC and cellularity or Ki-67 labeling index of NENs are negatively correlated.…”

Section: Proton Density Fat Fractionmentioning

confidence: 99%

Quantitative Magnetic Resonance Imaging for the Pancreas

Fukukura

Kanki

2023

Invest Radiol

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Magnetic resonance imaging (MRI) is important for evaluating pancreatic disorders, and anatomical landmarks play a major role in the interpretation of results. Quantitative MRI is an effective diagnostic modality for various pathologic conditions, as it allows the investigation of various physical parameters. Recent advancements in quantitative MRI techniques have significantly improved the accuracy of pancreatic MRI. Consequently, this method has become an essential tool for the diagnosis, treatment, and monitoring of pancreatic diseases. This comprehensive review article presents the currently available evidence on the clinical utility of quantitative MRI of the pancreas.

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Pancreatic neuroendocrine neoplasms: Updates on genomic changes in inherited tumour syndromes and sporadic tumours based on WHO classification

Cited by 9 publications

References 184 publications

Neuroendocrine neoplasms in the context of inherited tumor syndromes: a reappraisal focused on targeted therapies

Neuroendocrine neoplasms in the context of inherited tumor syndromes: a reappraisal focused on targeted therapies

Hereditary Syndromes Associated with Pancreatic and Lung Neuroendocrine Tumors

Quantitative Magnetic Resonance Imaging for the Pancreas

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