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A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG

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dc.contributor.authorÇETİN, ALİ
dc.contributor.authorsDemirtas, Coskun Ozer; Ata, Pinar; Cetin, Ali; Turkyilmaz, Ayberk; Duman, Deniz Guney
dc.date.accessioned2022-03-14T10:08:28Z
dc.date.available2022-03-14T10:08:28Z
dc.date.issued2020-08-28
dc.description.abstractBackground/Aims: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by tumors arising from endocrine glands with no specific genotype-phenotype correlation. Here, we report the largest Turkish kindred with MEN1 syndrome which inherited a scarce MEN1 mutation gene. Materials and Methods: A 64-year-old man, referred to our gastroenterology outpatient clinic for evaluation of a pancreatic mass lesion, was diagnosed with MEN1 syndrome after endoscopic ultrasound-guided sampling of the mass revealed pancreatic neuroendocrine tumor (pNET) and accompanying primary hyperparathyroidism (PHPT) and pituitary tumor. Genetic analysis by whole gene Sanger sequencing of the MEN1 gene identified a frame-shift mutation in exon 10 (c.1680_1683delTGAG). All the relatives of the index case were proposed for clinical and genetic evaluation for MEN1 syndrome. Results: Of the 25 relatives of the index case, 17 were diagnosed with the MEN1 syndrome. Eighteen members among all relatives consented to genetic analysis, and 11 had the same mutation as the index case. All the mutation positive members had MEN1, while none of mutation-negative subjects had any sign of MEN1 syndrome. The frequencies of PHPT, pNET, and pituitary tumors in this kindred were 94.1% (16/17), 29.4% (5/17), and 29.4% (5/17) respectively. Conclusion: We report a rare MEN1 gene mutation which has been descibed in a single sporadic patient earlier. It was inherited by at least three generations of a large family, proving the strong dominant effect of the MEN1 phenotype. Further research may be conducted to clarify potential candidacy of this mutation as a hotspot for MEN1 patients, especially in the Turkish population.
dc.identifier.doi10.5152/tjg.2020.19830
dc.identifier.eissn2148-5607
dc.identifier.pubmed32897224
dc.identifier.urihttps://hdl.handle.net/11424/244110
dc.identifier.wosWOS:000569379000004
dc.language.isoeng
dc.publisherAVES
dc.relation.ispartofTURKISH JOURNAL OF GASTROENTEROLOGY
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectMultiple endocrine neoplasia type 1
dc.subjectframe-shift mutation
dc.subjectendocrine gland neoplasms
dc.subjectpancreatic neuroendocrine tumor
dc.subjectMEN1
dc.subjectTUMORS
dc.titleA large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG
dc.typearticle
dspace.entity.typePublication
local.avesis.idb893e196-eba5-4f38-9a72-90bb0722a96f
local.import.packageSS16
local.indexed.atWOS
local.indexed.atPUBMED
local.indexed.atTRDIZIN
local.journal.numberofpages7
local.journal.quartileQ4
oaire.citation.endPage514
oaire.citation.issue7
oaire.citation.startPage508
oaire.citation.titleTURKISH JOURNAL OF GASTROENTEROLOGY
oaire.citation.volume31
relation.isAuthorOfPublication38b8852d-4a2b-4d10-910b-39bb23efeba4
relation.isAuthorOfPublication.latestForDiscovery38b8852d-4a2b-4d10-910b-39bb23efeba4

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