Molecular challenges of neuroendocrine tumors (Review)

Patel, Parthik; Galoian, Karina

doi:10.3892/ol.2017.7680

Cited by 14 publications

(17 citation statements)

References 151 publications

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“…TP53 mutations have been reported in approximately 80% of poorly differentiated neuroendocrine cancers [13] . As part of the PI3K-AKT-mTOR pathway, PI3KCA is considered to be a molecular target for the treatments of advanced NET [14] . Kwon et al rst reported a case combined hepatocellular carcinoma and neuroendocrine carcinoma with ectopic secretion of parathyroid hormone.…”

Section: Discussionmentioning

confidence: 99%

Misdiagnosis of Primary Hepatic Neuroendocrine Carcinoma: A Case Report and Literature Review

Luo

et al. 2020

Preprint

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Background: Primary hepatic neuroendocrine carcinoma (PHNEC) is relatively rare and has high malignancy and poor prognosis, but the rate of clinical diagnosis is low. The clinical symptoms, signs, and ultrasound images are not specific. Diagnosis is mainly based on pathological manifestations and immunophenotyping analysis. Here, we present a case of PHNEC with rectal adenoma.Case presentation: A 63-year-old male patient complained of dull pain and discomfort in his right upper abdomen that had persisted for over 1 month. This individual was initially diagnosed with rectal cancer with liver metastasis because of unclear and inconclusive imaging examination results. The biopsy of rectal polyps indicated tubular villous adenoma, and the liver biopsy and immunohistochemical examinations suggested PHNEC.Conclusions: When a patient has not been diagnosed with hepatitis or cirrhosis, the AFP value is not high, and imaging shows solid space-occupying lesions, liquefaction, and clear liver tumor boundaries, we can exclude tumors of non-hepatic origin using gastroscopy, colonoscopy, and PET-CT, and other tests. We can then consider Primary hepatic neuroendocrine tumor and confirm this with pathological examinations and immunophenotyping.

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Section: Discussionmentioning

confidence: 99%

Misdiagnosis of Primary Hepatic Neuroendocrine Carcinoma: A Case Report and Literature Review

Luo

et al. 2020

Preprint

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“…Histone methylation of genes encoding other CDKis, such as p16 Ink4a (CDKN2A) and p14 ARF , has been identified as an early driver in NET pathogenesis. Enhanced H3K9me3 activity through menin-Daxx interactions leads to epigenetic inhibition of a pro-proliferative gene, Mme, and results in NET suppression in mice (Patel et al 2018), while Men1 −/− mouse embryonic fibroblasts have reduced global methylation of histone H3K9 and H3K4. In addition, menin interacts with the SUV39H1 (suppressor of variegation 3-9 homolog protein family) and mediates H3K9 methylation.…”

Section: Histone Modification (Acetylation and Methylation)mentioning

confidence: 99%

The evolving (epi)genetic landscape of pancreatic neuroendocrine tumours

Pipinikas

Berner

Sposito

et al. 2019

Endocrine-Related Cancer

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Neuroendocrine neoplasms (NENs) are a relatively rare group of heterogeneous tumours originating from neuroendocrine cells found throughout the body. Pancreatic NENs (PanNENs) are the second most common pancreatic malignancy accounting for 1–3% of all neoplasms developing in the pancreas. Despite having a low background mutation rate, driver mutations in MEN1, DAXX/ATRX and mTOR pathway genes (PTEN, TSC1/2) are implicated in disease development and progression. Their increased incidence coupled with advances in sequencing technologies has reignited the interest in PanNEN research and has accelerated the acquisition of molecular data. Studies utilising such technological advances have further enriched our knowledge of PanNENs’ biology through novel findings, including higher-than-expected presence of germline mutations in 17% of sporadic tumours of no familial background, identification of novel mutational signatures and complex chromosomal rearrangements and a dysregulated epigenetic machinery. Integrated genomic studies have progressed the field by identifying the synergistic action between different molecular mechanisms, while holding the promise for deciphering disease heterogeneity. Although our understanding is far from being complete, these novel findings have provided the optimism of shaping the future of PanNEN research, ultimately leading to an era of precision medicine for NETs. Here, we recapitulate the existing knowledge on pancreatic neuroendocrine tumours (PanNETs) and discuss how recent, novel findings have furthered our understanding of these complex tumours.

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“…Neuroendocrine neoplasms are genomically and clinically heterogeneous. This heterogeneity occurs between cancers originating from different organs, within the cancers originating in the same organ, and between primary and metastatic lesions [4,[11][12][13]. For instance, small intestine NETs are genomic stable cancers, with a low mutational load compared with NETs originating from different organs, such as lung and pancreas.…”

Section: Neuroendocrine Neoplasms and Molecular Heterogeneitymentioning

confidence: 99%

“…Neuroendocrine neoplasms (NENs) are originated from the neoplastic transformation of neuroendocrine cells at various anatomic locations, being the gastrointestinal tract, the endocrine pancreas and the respiratory tract, the most involved sites. [4].…”

Section: Introductionmentioning

confidence: 99%

Updates on the Role of Molecular Alterations and NOTCH Signaling in the Development of Neuroendocrine Neoplasms

Arx¹,

Capozzi²,

López‐Jiménez³

et al. 2019

Preprint

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Neuroendocrine neoplasms (NENs) comprise a heterogeneous group of rare malignancies mainly originated from hormones secreting cells, which are widespread in human tissues. The identification of mutations in ATRX/DAXX genes in sporadic NENs, as well as the high burden of mutations scattered throughout MEN-1 gene in both sporadic and inherited syndromes, provided new insights into the molecular biology of tumour development. Other molecular mechanisms, such as the NOTCH signaling pathway, have shown to play an important role in the pathogenesis of NENs. NOTCH receptors are expressed on neuroendocrine cells and generally, act as tumour suppressor proteins, but in some contexts can function as oncogenes. The biological heterogeneity of NENs suggests that to fully understand the roles and the potential therapeutic implications of gene mutations and NOTCH signaling in NENs, a comprehensive analysis of genetic alterations, NOTCH expression patterns and their potential roles across all NEN subtypes is required.

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Molecular challenges of neuroendocrine tumors (Review)

Cited by 14 publications

References 151 publications

Misdiagnosis of Primary Hepatic Neuroendocrine Carcinoma: A Case Report and Literature Review

Misdiagnosis of Primary Hepatic Neuroendocrine Carcinoma: A Case Report and Literature Review

The evolving (epi)genetic landscape of pancreatic neuroendocrine tumours

Updates on the Role of Molecular Alterations and NOTCH Signaling in the Development of Neuroendocrine Neoplasms

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