Article ; Online: Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome.
2021 Volume 74, Issue 1, Page(s) 180–187
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, ... ...
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. |
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MeSH term(s) | Adolescent ; Adult ; Child ; Genetic Association Studies ; Humans ; Male ; Middle Aged ; Neuroendocrine Tumors/genetics ; Pancreatic Neoplasms/genetics ; Retrospective Studies ; Von Hippel-Lindau Tumor Suppressor Protein/genetics ; Young Adult ; von Hippel-Lindau Disease/complications ; von Hippel-Lindau Disease/genetics |
Chemical Substances | Von Hippel-Lindau Tumor Suppressor Protein (EC 2.3.2.27) |
Language | English |
Publishing date | 2021-05-25 |
Publishing country | United States |
Document type | Journal Article |
ZDB-ID | 1194484-5 |
ISSN | 1559-0100 ; 1355-008X ; 0969-711X |
ISSN (online) | 1559-0100 |
ISSN | 1355-008X ; 0969-711X |
DOI | 10.1007/s12020-021-02752-8 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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