ECE2021 Audio Eposter Presentations Endocrine-Related Cancer (25 abstracts)
Heterogeneity of the clinical presentation of the MEN1 LRG_509t1 c.781C > T (p.Leu261Phe) variant within a three-generation family
Aleksandra Gilis-Januszewska 1 , Anna Boguslawska 1 , Magdalena Godlewska 1 , Kornelia Hasse-Lazar 2 , Beata Jurecka-Lubieniecka 2 , Barbara Jarzab 2 , Anna Sowa-Staszczak 1 , Anna Skalniak 1 & Alicja Hubalewska-Dydejczyk 1
1Jagiellonian University Medical College, Department of Endocrinology, Kraków, Poland; 2M. Sklodowska-Curie Memorial Institute — Cancer Centre, Gliwice Branch, Department of Nuclear Medicine and Endocrine Oncology, Gliwice, Poland
Background
Multiple neuroendocrine neoplasia type 1 is a rare, heterogeneous genetic disorder with an autosomal dominant inheritance, predisposing to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localisation, age of onset and clinical aggressiveness, even between affected members of the same family. We report a heterogenic phenotype of the MEN1 variant c.[781C > T] (LRG_509t1) previously reported only once in a family with isolated hyperparathyroidism.
Methods
A large Polish kindred with suspicion of MEN1 syndrome underwent clinical evaluation and genetic testing.
Results
A heterozygous missense variant in exon 4 of the gene was identified in the sequence of the MEN1 gene (LRG_509t1), i.e. c.781C > T, leading at protein level to the amino acid change p.Leu261Phe in three-generation family. In the screened family, 5/6 affected members already developed hyperparathyroidism. In the index patient and two other family members, aggressive course of the disease, with dissemination of pancreatic-neuroendocrine tumor (insulinoma and non-functioning neuroendocrine tumors) was observed. In the index patient, late diagnosis and slow progression of the dissemination process was observed during 24 years of follow-up.
Conclusion
The very rare variant of MEN1, LRG_509t1 c.781C > T /p.Leu261Phe (LRG_509t1) diagnosed within a three -generation family has heterogenic clinical presentation. Further follow-up of the family members should be performed to confirm the spectrum and exact time of clinical presentation of this alteration.
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