scholarly journals Clinical presentation, genotype–phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel–Lindau syndrome

Endocrine ◽  
2021 ◽  
Author(s):  
F. Penitenti ◽  
L. Landoni ◽  
M. Scardoni ◽  
M. L. Piredda ◽  
S. Cingarlini ◽  
...  
Keyword(s):  
Neuroendocrine Tumors ◽  
Clinical Presentation ◽  
Genetic Mutation ◽  
Common Disease ◽  
Tumor Diameter ◽  
Pancreatic Neuroendocrine Tumors ◽  
Von Hippel Lindau ◽  
Node Metastases ◽  
Von Hippel Lindau Syndrome

Abstract Purpose Data regarding the clinical management and follow-up of pancreatic neuroendocrine tumors (PanNETs) associated with Von Hippel–Lindau (VHL) syndrome are limited. This study aimed to assess clinical presentation, genotype–phenotype correlations, treatment and prognosis of PanNETs in a series of VHL syndrome patients. Methods Retrospective analysis of data of patients observed between 2005 and 2020. Results Seventeen patients, including 12 probands and 5 relatives (mean age 30.8 ± 18.4; 7 males), were recruited. PanNETs were found in 13/17 patients (77.5%) at a median age of 37 years: 4/13 (30.7%) at the time of VHL diagnosis and 9 (69.3%) during follow up. Six (46.1%) PanNET patients underwent surgery, whereas seven were conservatively treated (mean tumor diameter: 40 ± 10.9 vs. 15 ± 5.3 mm respectively). Four patients (30.7%) had lymph node metastases and a mean tumor diameter significantly larger than the nonmetastatic PanNETs (44.2 ± 9.3 vs. 17.4 ± 7 mm, p = 0.00049, respectively). Five (83.3%) operated patients had stable disease after a median follow up of 3 years whereas one patient showed liver metastases. Six (85.7%) non-resected PanNETs were stable after a median follow-up of 2 years, whereas one patient developed a new small PanNET and a slight increase in diameter of a pre-existing PanNET. No correlation was found between the type of germline mutation and malignant behavior of PanNETs. Conclusions PanNETs are a common disease of the VHL syndrome and can be the presenting feature. Tumor size rather than genetic mutation is a prognostic factor of malignancy.

scholarly journals Association of Type O Blood with Pancreatic Neuroendocrine Tumors in Von Hippel–Lindau Syndrome

2012 ◽  
Vol 19 (6) ◽  
pp. 2054-2059 ◽  
Author(s):  
Allison B. Weisbrod ◽  
David J. Liewehr ◽  
Seth M. Steinberg ◽  
Erin E. Patterson ◽  
Steven K. Libutti ◽  
...  
Keyword(s):  
Neuroendocrine Tumors ◽  
Pancreatic Neuroendocrine Tumors ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Syndrome

scholarly journals Assessment of Tumor Growth in Pancreatic Neuroendocrine Tumors in von Hippel Lindau Syndrome

2014 ◽  
Vol 218 (2) ◽  
pp. 163-169 ◽  
Author(s):  
Allison B. Weisbrod ◽  
Mio Kitano ◽  
Francine Thomas ◽  
David Williams ◽  
Neelam Gulati ◽  
...  
Keyword(s):  
Tumor Growth ◽  
Neuroendocrine Tumors ◽  
Pancreatic Neuroendocrine Tumors ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Syndrome

scholarly journals Preventive medicine of von Hippel–Lindau disease-associated pancreatic neuroendocrine tumors

2018 ◽  
Vol 25 (9) ◽  
pp. 783-793 ◽  
Author(s):  
Tobias Krauss ◽  
Alfonso Massimiliano Ferrara ◽  
Thera P Links ◽  
Ulrich Wellner ◽  
Irina Bancos ◽  
...  
Keyword(s):  
Neuroendocrine Tumors ◽  
Survival Data ◽  
Tumor Diameter ◽  
Pancreatic Neuroendocrine Tumors ◽  
Predictive Values ◽  
Von Hippel Lindau ◽  
Volume Doubling Time ◽  
Von Hippel Lindau Disease ◽  
Multivariate Prediction ◽  
Management Recommendations

Pancreatic neuroendocrine tumors (PanNETs) are rare in von Hippel–Lindau disease (VHL) but cause serious morbidity and mortality. Management guidelines for VHL-PanNETs continue to be based on limited evidence, and survival data to guide surgical management are lacking. We established the European-American-Asian-VHL-PanNET-Registry to assess data for risks for metastases, survival and long-term outcomes to provide best management recommendations. Of 2330 VHL patients, 273 had a total of 484 PanNETs. Median age at diagnosis of PanNET was 35 years (range 10–75). Fifty-five (20%) patients had metastatic PanNETs. Metastatic PanNETs were significantly larger (median size 5 vs 2 cm; P < 0.001) and tumor volume doubling time (TVDT) was faster (22 vs 126 months; P = 0.001). All metastatic tumors were ≥2.8 cm. Codons 161 and 167 were hotspots for VHL germline mutations with enhanced risk for metastatic PanNETs. Multivariate prediction modeling disclosed maximum tumor diameter and TVDT as significant predictors for metastatic disease (positive and negative predictive values of 51% and 100% for diameter cut-off ≥2.8 cm, 44% and 91% for TVDT cut-off of ≤24 months). In 117 of 273 patients, PanNETs >1.5 cm in diameter were operated. Ten-year survival was significantly longer in operated vs non-operated patients, in particular for PanNETs <2.8 cm vs ≥2.8 cm (94% vs 85% by 10 years; P = 0.020; 80% vs 50% at 10 years; P = 0.030). This study demonstrates that patients with PanNET approaching the cut-off diameter of 2.8 cm should be operated. Mutations in exon 3, especially of codons 161/167 are at enhanced risk for metastatic PanNETs. Survival is significantly longer in operated non-metastatic VHL-PanNETs.

Pre-operative Diagnosis of Pancreatic Neuroendocrine Tumors with Endoscopic Ultrasonography and Computed Tomography in a Large Series

2016 ◽  
Vol 25 (3) ◽  
pp. 317-321 ◽  
Author(s):  
Raffaele Manta ◽  
Elisabetta Nardi ◽  
Nico Pagano ◽  
Claudio Ricci ◽  
Mariano Sica ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Neuroendocrine Tumors ◽  
Endoscopic Ultrasonography ◽  
Fine Needle Aspiration ◽  
Chromogranin A ◽  
Needle Aspiration ◽  
Large Series ◽  
Tumor Diameter ◽  
Pancreatic Neuroendocrine Tumors ◽  
Fine Needle

Background & Aims: Diagnosis of pancreatic neuroendocrine tumors (p-NETs) is frequently challenging. We describe a large series of patients with p-NETs in whom both pre-operative Computed Tomography (CT) and Endoscopic Ultrasonography (EUS) were performed. Methods: This was a retrospective analysis of prospectively collected sporadic p-NET cases. All patients underwent both standard multidetector CT study and EUS with fine-needle aspiration (FNA). The final histological diagnosis was achieved on a post-surgical specimen. Chromogranin A (CgA) levels were measured. Results: A total of 80 patients (mean age: 58 ± 14.2 years; males: 42) were enrolled. The diameter of functioning was significantly lower than that of non-functioning p-NETs (11.2 ± 8.5 mm vs 19.8 ± 12.2 mm; P = 0.0004). The CgA levels were more frequently elevated in non-functioning than functioning pNET patients (71.4% vs 46.9%; P = 0.049). Overall, the CT study detected the lesion in 51 (63.7%) cases, being negative in 26 (68.4%) patients with a tumor ≤10 mm, and in a further 3 (15%) cases with a tumor diameter ≤20 mm. CT overlooked the pancreatic lesion more frequently in patients with functioning than non-functioning p-NETs (46.5% vs 24.3%; P = 0.002). EUS allowed a more precise pre-operative tumor measurement, with an overall incorrect dimension in only 9 (11.2%) patients. Of note, the EUS-guided FNA suspected the neuroendocrine nature of tumor in all cases. Conclusions: Data of this large case series would suggest that the EUS should be included in the diagnostic work-up in all patients with a suspected p-NET, even when the CT study was negative for a primary lesion in the pancreas.– . Abbrevations: CgA: chromogranin A; EUS: Endoscopic Ultrasonography; FNA: fine-needle aspiration; p-NETs: pancreatic neuroendocrine tumors.

scholarly journals FAS and Subsequent Therapies in Pancreatic Neuroendocrine Tumors

2021 ◽  
Author(s):  
Jane E. Rogers ◽  
Michael Lam ◽  
Daniel M. Halperin ◽  
Cecile G. Dagohoy ◽  
James C. Yao ◽  
...  
Keyword(s):  
Neuroendocrine Tumors ◽  
Cox Regression ◽  
Progression Free Survival ◽  
Pancreatic Neuroendocrine Tumors ◽  
Free Survival ◽  
Prior Therapy ◽  
Well Differentiated ◽  
Grade 3 ◽  
Line Of Therapy

We evaluated outcomes of treatment with 5-fluorouracil (5-FU), doxorubicin, and streptozocin (FAS) in well-differentiated pancreatic neuroendocrine tumors (PanNETs) and its impact on subsequent therapy (everolimus or temozolomide). Advanced PanNET patients treated at our center from 1992 to 2013 were retrospectively reviewed. Patients received bolus 5-FU (400 mg/m2), streptozocin (400 mg/m2) (both IV, days 1-5) and doxorubicin (40 mg/m2 IV, day 1) every 28 days. Overall response rate (ORR) was assessed using RECIST version 1.1. Of 243 eligible patients, 220 were evaluable for ORR, progression-free survival (PFS), and toxicity. Most (90%) had metastatic, nonfunctional PanNETs; 14% had prior therapy. ORR to FAS was 41% (95% confidence interval [CI]: 36-48%). Median follow-up was 61 months. Median PFS was 20 (95% CI: 15-23) months; median overall survival (OS) was 63 (95% CI: 60-71) months. Cox regression analyses suggested improvement with first-line vs subsequent lines of FAS therapy. Main adverse events ≥ grade 3 were neutropenia (10%) and nausea/vomiting (5.5%). Dose reductions were required in 32% of patients. Post-FAS everolimus (n=108; 68% second line) had a median PFS of 10 (95% CI: 8-14) months. Post-FAS temozolomide (n=60; 53% > fourth line) had an ORR of 13% and median PFS of 5.2 (95% CI: 4-12) months. In this largest reported cohort of PanNETs treated with chemotherapy, FAS demonstrated activity without significant safety concerns. FAS did not appear to affect subsequent PFS with everolimus; this sequence is being evaluated prospectively. Responses were noted with subsequent temozolomide-based regimens although PFS was possibly limited by line of therapy.

Pott Disease in a 13-Month-Old: Case Report

Neurosurgery ◽  
2011 ◽  
Vol 68 (5) ◽  
pp. E1485-E1490 ◽  
Author(s):  
Giac Consigilieri ◽  
Udaya K. Kakarla ◽  
Nicholas Theodore
Keyword(s):  
Clinical Presentation ◽  
Posterior Instrumentation ◽  
The United States ◽  
Cord Compression ◽  
Common Disease ◽  
Unique Challenge ◽  
Very Young Children ◽  
Anterior Tibial ◽  
Steinmann Pin

Abstract BACKGROUND AND IMPORTANCE: Tuberculosis (TB) is a common disease worldwide that is caused by Mycobacterium tuberculosis. TB of the spine is the most common site of bony infection and is often referred to as Pott disease. To the best of our knowledge, our case represents the youngest patient with naturally acquired Pott disease in the United States. CLINICAL PRESENTATION: A 13-month-old boy presented with paraplegia and a known diagnosis of TB. His evaluation revealed a kyphotic gibbus deformity in the midthoracic region associated with severe spinal cord compression. The patient underwent urgent decompressive laminectomies, T2-T4 transpedicular corpectomies, placement of an anterior tibial strut graft, and posterior instrumentation with sublaminar wires and a Steinmann pin. At his 18-month follow-up, the patient was ambulating 5 steps at a time independently, and his kyphotic deformity showed no sign of progression. CONCLUSION: Pott disease can occur in very young children and presents a unique challenge when a patient presents with a neurological deficit and unstable deformity requiring surgical intervention.

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