Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine tumors (PNETs)

Blansfield, Joseph; Choyke, Lynda; Morita, Shane Y.; Choyke, Peter L.; Pingpank, James F.; Alexander, H. Richard; Seidel, Geoffrey; Shutack, Yvonne; Yuldasheva, Nadira; Eugeni, Michelle; Bartlett, David L.; Glenn, Gladys; Middelton, Lindsay; Linehan, W. Marston; Libutti, Steven K.

doi:10.1016/j.surg.2007.09.012

Cited by 245 publications

(211 citation statements)

References 12 publications

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“…Many PNETs are associated with genetic cancer syndromes such as multiple endocrine neoplasia type I (MEN-I) and von Hippel-Lindau syndrome (VHL) [29,30]. One patient in our study had a diagnosis of MEN-I.…”

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confidence: 78%

Prognostic Value of Volume-Based Metabolic Parameters Measured by 18F-FDG PET/CT of Pancreatic Neuroendocrine Tumors

Kim

Choi

et al. 2014

Nucl Med Mol Imaging

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Purpose To date, the prognostic value of 18 F-FDG PET/CT for patients with pancreatic neuroendocrine tumors (PNETs) has not been well characterized. We investigated the prognostic value of volumetric parameters using 18 F-FDG PET/CT in this patient population. Methods We retrospectively reviewed 20 cases of pathologically proven PNET in patients who had undergone pretherapeutic 18 F-FDG PET/CT. PET parameters including maximum and average standardized uptake values (SUV max , SUV ave ), metabolic tumor volume (MTV), and total lesion glycolysis (TLG) of the primary tumor were measured using a threshold SUV to determine the boundaries of the tumors. Univariate and multivariate survival analyses were performed with adjustments for PET parameters and other clinical values.Results The median clinical follow-up was 22.3 (range, 1.2-95.4) months. Cancer-related death occurred in 5 of 20 patients (25 %). Patients had clinical or pathological stages of I in seven patients, II in six patients, III in three patient, and IV in four patients. According to the WHO histological classification of subtypes, 3 patients exhibited well-differentiated PNETs, 13 patients had well-differentiated endocrine carcinomas, and 4 had poorly differentiatedendocrine carcinomas. Univariate analysis showed that tumor size (p=0.028), AJCC stage (p=0.009), T stage (p=0.028), M stage (p=0.029), treatment modality (p=0.045), MTV (p=0.003) and TLG (p=0.027) were significant predictors of overall survival. On multivariate analysis, MTV (HR=10.859, p=0.031) was a significant independent predictor of overall survival along with the AJCC stage (HR=11.556, p=0.027).

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confidence: 78%

Prognostic Value of Volume-Based Metabolic Parameters Measured by 18F-FDG PET/CT of Pancreatic Neuroendocrine Tumors

Kim

Choi

et al. 2014

Nucl Med Mol Imaging

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“…32 Pancreatic tumours occur in 5-10% of cases and are usually solid non-secretory islet cell tumours tumours best detected by contrast enhanced MRI with early arterial phase imaging.A high frequency of that malignancy has been reported in VHL associated islet cell tumours and surgery is indicated in tumours 43 cm. 33,34 Pancreatic tumours with cystic components are microcystic cystadenomas. 35 Other features Endolymphatic sac tumours (ELST) can be detected by MRI or CT imaging in up to 11% of patients.…”

Section: Pancreasmentioning

confidence: 99%

von Hippel–Lindau disease: A clinical and scientific review

Neumann²,

2011

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“…In general, VHL is characterized by increased risk of retinal and central nervous system (CNS) haemangioblastomas, pheochromocytoma (PCC), paragangliomas (PGL), renal clear cell carcinomas, renal cysts, pancreatic NETs (PanNET), pancreatic cysts and endolymphatic sac tumours. Exon 3 mutations seem to be associated with an increased risk of malignancy in pancreatic NET (PanNET) (Blansfield et al 2007).…”

Section: Genetic Syndromesmentioning

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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Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine tumors (PNETs)

Cited by 245 publications

References 12 publications

Prognostic Value of Volume-Based Metabolic Parameters Measured by 18F-FDG PET/CT of Pancreatic Neuroendocrine Tumors

Prognostic Value of Volume-Based Metabolic Parameters Measured by 18F-FDG PET/CT of Pancreatic Neuroendocrine Tumors

von Hippel–Lindau disease: A clinical and scientific review

Genetic and epigenetic drivers of neuroendocrine tumours (NET)

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