ECE2021 Audio Eposter Presentations Late Breaking (114 abstracts)
Neuroendocrine neoplasm of the pancreas as a manifestation of familial isolated pituitary adenoma: A case report
Eva Coopmans 1 , Esther Korpershoek 2 , M.F. van Velthuysen 2 , Adrian F. Daly 3 , Albert Beckers 3 , Aart Jan Van der Lely 1 , Sebastian Neggers 1 , Hans Hofland 1 , Richard Feelders 1 & Wouter W de Herder 1
1Erasmus University Medical Center Rotterdam, Endocrinology section, Rotterdam, Netherlands; 2Erasmus University Medical Center Rotterdam, Department of Pathology, Rotterdam, Netherlands; 3University of Liège, Department of Endocrinology, Liège, Belgium
Context
Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) have been identified in patients with pituitary adenomas, most frequently presenting as somatotropinomas in the setting of familial isolated pituitary adenoma (FIPA). Our current understanding of AIP related tumorigenesis indicates that it leads to isolated pituitary adenomans, while other associated tumors have not typically been considered part of the clinical spectrum. pancreatic neuroendocrine neoplasms (panNENs)
Case description
We report a unique case of an advanced pancreatic neuroendocrine neoplasm (panNEN) in a patient from a 3-member kindred. Germline DNA revealed a heterozygous pathological AIP variant c.910C > T (p.R304*) in the affected family members; no germline multiple endocrine neoplasia type 1 (MEN1) or cyclin-dependent kinase inhibitor 1B (CDKN1B) variants were seen. The tumor DNA sequencing confirmed the AIP c.910C > T (p.R304*) change in a liver metastasis, accompanied by loss of heterozygosity at the AIP locus. Furthermore, the liver metastasis showed an additional somatic variant in MEN1 c.1289_1291del (p.E430del).
Conclusions
Genetic testing and tumor histopathology in this FIPA kindred suggest that in this case, the panNEN might represent a rare new AIP-associated malignancy.
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more