Periampullary and Duodenal Neoplasms in Neurofibromatosis Type 1: Two Cases and an Updated 20-Year Review of the Literature Yielding 76 Cases

Relles, Daniel A.; Baek, Jennie; Witkiewicz, Agnieszka K.; Yeo, Charles J.

doi:10.1007/s11605-009-1123-0

Cited by 102 publications

(81 citation statements)

References 66 publications

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“…To our knowledge, only 13 cases with the triad of GIST, dSOM and NF-1 have previously been reported [28,29,30,31,32,33,34,35,36,37,38,39,40,41]. …”

Section: Discussionmentioning

confidence: 99%

Somatostatin-Immunoreactive Pancreaticoduodenal Neuroendocrine Neoplasms: Twenty-Three Cases Evaluated according to the WHO 2010 Classification

Luna¹,

Monrad²,

Binderup³

et al. 2015

Neuroendocrinology

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Background/Objective: Neuroendocrine neoplasms of the pancreas and duodenum with predominant or exclusive immunoreactivity for somatostatin (pdSOMs) are rare, and knowledge about tumour biology, treatment, survival and prognostic factors is limited. This study aims to describe clinical, pathological and biochemical features as well as treatment and prognosis of pdSOMs. Design: Twenty-three patients with pdSOM (9 duodenal, 12 pancreatic and 2 unknown primary tumours) were identified from our prospective neuroendocrine tumour database, and data according to the study aims were recorded. Results: Among the 9 patients with duodenal SOM, the male/female ratio was 4/5. All males and 1 female had neurofibromatosis type 1. Seven patients had stage 1A/B and 2 had stage 2B disease. The Ki-67 index was 1-5% (median 2%). Plasma somatostatin was elevated in the patients with 2B disease. Of the 14 patients with pancreatic SOM or an unknown primary tumour, the male/female ratio was 2/12. One male had multiple endocrine neoplasia type 1. Five had stage 1A/2B and 9 had stage 4. The Ki-67 index was 1-40% (median 7%). Plasma somatostatin was elevated in 7 patients. Patients reported symptoms related to the somatostatinoma syndrome, but none fulfilled the criteria for a full syndrome. Primary tumour in the pancreas, metastatic disease at diagnosis and higher tumour grade were all associated with significantly poorer survival. Conclusion: None of the patients with pdSOM presented with the full somatostatinoma syndrome. Prognostic factors are localisation of the primary tumour, dissemination and tumour grade. A Ki-67 index of 5% may discriminate the course of the disease.

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“…To our knowledge, only 13 cases with the triad of GIST, dSOM and NF-1 have previously been reported [28,29,30,31,32,33,34,35,36,37,38,39,40,41]. …”

Section: Discussionmentioning

confidence: 99%

Somatostatin-Immunoreactive Pancreaticoduodenal Neuroendocrine Neoplasms: Twenty-Three Cases Evaluated according to the WHO 2010 Classification

Luna¹,

Monrad²,

Binderup³

et al. 2015

Neuroendocrinology

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“…café-au-lait spots, axillary and inguinal freckling, iris hematomas and optic gliomas (Basile et al 2010, Relles et al 2010, Pasmant et al 2012. The prevalence of NF1 is about 1 in 3000 individuals.…”

Section: :9mentioning

confidence: 99%

“…The prevalence of NF1 is about 1 in 3000 individuals. Approximately 40% of periampullary duodenal somatostatinomas are associated with NF1 (Relles et al 2010). PCCs and NET in other locations, including the pancreas can also develop (Perren et al 2006).…”

Section: :9mentioning

confidence: 99%

Genetic and epigenetic drivers of neuroendocrine tumours (NET)

Domenico

Wiedmer

Perren

2017

Endocrine-Related Cancer

111

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Neuroendocrine tumours (NET) of the gastrointestinal tract and the lung are a rare and heterogeneous group of tumours. The molecular characterization and the clinical classification of these tumours have been evolving slowly and show differences according to organs of origin. Novel technologies such as next-generation sequencing revealed new molecular aspects of NET over the last years. Notably, whole-exome/genome sequencing (WES/WGS) approaches underlined the very low mutation rate of well-differentiated NET of all organs compared to other malignancies, while the engagement of epigenetic changes in driving NET evolution is emerging. Indeed, mutations in genes encoding for proteins directly involved in chromatin remodelling, such as DAXX and ATRX are a frequent event in NET. Epigenetic changes are reversible and targetable; therefore, an attractive target for treatment. The discovery of the mechanisms underlying the epigenetic changes and the implication on gene and miRNA expression in the different subgroups of NET may represent a crucial change in the diagnosis of this disease, reveal new therapy targets and identify predictive markers. Molecular profiles derived from omics data including DNA mutation, methylation, gene and miRNA expression have already shown promising results in distinguishing clinically and molecularly different subtypes of NET. In this review, we recapitulate the major genetic and epigenetic characteristics of pancreatic, lung and small intestinal NET and the affected pathways. We also discuss potential epigenetic mechanisms leading to NET development.

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“…In their review, they observed that 60 % of the tumors were located in the duodenum, 31 % were of the ampulla of Vater, 5 % in pancreas, and 4 % in the bile duct or gallbladder. NETs represented 47 % of all periampullary tumors (40 % somatostinoma, 6 % carcinoid, and 1 % malignant) and 34 % were GISTs [9]. Although somatostinomas are the most frequent NETs in NF1, they rarely develop somatostatinoma syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…They appear in 5-25 % of NF1 patients, are multiple in 60 % of cases, and appear in the duodenum in 20-30 % of patients. Indolent in most cases, severe gastrointestinal bleeding is a common complication [9]. However, without histopathological examination, definitive diagnosis is challenging.…”

Section: Discussionmentioning

confidence: 99%

Major and Minor Duodenal Papilla Neuroendocrine Tumors in Type 1 Neurofibromatosis: Case Report

Zandomeni

Beltrame

Santibañes

et al. 2016

J Gastrointest Canc

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Periampullary and Duodenal Neoplasms in Neurofibromatosis Type 1: Two Cases and an Updated 20-Year Review of the Literature Yielding 76 Cases

Abstract: These results underscore the importance of a thorough evaluation for tumors in NF1 patients with gastrointestinal symptoms, as well as subsequent surgical management when findings suggest a tumor in the periampullary region, as resection remains the mainstay of treatment.

Cited by 102 publications

References 66 publications

Somatostatin-Immunoreactive Pancreaticoduodenal Neuroendocrine Neoplasms: Twenty-Three Cases Evaluated according to the WHO 2010 Classification

Somatostatin-Immunoreactive Pancreaticoduodenal Neuroendocrine Neoplasms: Twenty-Three Cases Evaluated according to the WHO 2010 Classification

Genetic and epigenetic drivers of neuroendocrine tumours (NET)

Major and Minor Duodenal Papilla Neuroendocrine Tumors in Type 1 Neurofibromatosis: Case Report

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