ArticleEndocrine2011
Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family.
Article in Endocrine, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- Double mutation for multiple endocrine neoplasia associated with congenital adrenal hyperplasia.Endocrinology, diabetes & metabolism case reports · 2025Article
- A Case of Cushing's Disease and a RET Pathogenic Variant: Exploring Possible Rare Associations.Cureus · 2024Article
- [Casuistic cases of parathyroid carcinoma with a verified mutation in theProblemy endokrinologii · 2023Article
- Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with BothJournal of the Endocrine Society · 2020Article
- Novel association ofOncology letters · 2017Article
- Medullary Thyroid Carcinoma Associated with Germline RETThyroid : official journal of the American Thyroid Association · 2016Article
- A patient with MEN1 typical features and MEN2-like features.International journal of endocrine oncology · 2016Article
- Review
- Vandetanib: opening a new treatment practice in advanced medullary thyroid carcinoma.Endocrine · 2013Review
- Article
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To describe the coexistence of mutations of both the multiple endocrine neoplasia type 1 (MEN1) and type 2 (MEN2) genes in a large Italian family and evaluate if it could be associated with more aggressive clinical manifestations of the two syndromes. Blood samples were obtained for genetic and biochemical analyses. The RET gene exons (8, 10, 11, 13, 14, 15, 16, 18) and the MEN1 coding regions, including the exon-intron boundaries, were amplified by PCR and directly sequenced. We identified two germline mutations in the proband: the first one, K666M, located at the exon 11 of RET proto-oncogene and the second one, IVS4+1G>T, located in the MEN1 gene. The functional characterization of IVS4+1G>T variation, located in the splicing donor site of exon 4 of MEN1 gene, caused the in-frame junction of exon 3 to exon 5, thus obtaining a shorter protein. The same proband's germline mutations were found in 16 relatives out of 21 screened subjects: 8 carried IVS4+1G>T, 4 RET K666M, and 4 both the mutations. This is the second report in literature of coexistence in the same family of germline mutations of both RET proto-oncogene and MEN1 gene. The simultaneous presence of the two mutations was not apparently associated with more aggressive diseases, since at last follow-up all patients appeared to be disease-free or well compensated by medical therapy; finally, no one exhibited metastatic diseases.
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