A new form of familial multi-nodular goitre with progression to differentiated thyroid cancer

Bakhsh, Ameen, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Gregory, John Welbourn ORCID: https://orcid.org/0000-0001-5189-3812, Williams, E. D. and Ludgate, Marian Elizabeth 2006. A new form of familial multi-nodular goitre with progression to differentiated thyroid cancer. Endocrine-Related Cancer 13 (2) , pp. 475-483. 10.1677/erc.1.01138

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Abstract

We report a kindred with euthyroid multi-nodular goitre (MNG) of adolescent onset. Two of the seven subjects with MNG have progressed to papillary thyroid cancer. One affected male had nodular kidney disease, and breast cancer occurred in one affected female. Genes that were candidates on the basis of the associated kidney (PAX8) and breast diseases (sodium iodide symporter (NIS)), were sequenced. No mutations were found in the coding region, intron/exon splice sites or in the promoter sequences (from −1248 relative to the translation initiation codon) of PAX8. Similar results were obtained for NIS. Subsequently, microsatellite analyses were performed on 14 informative family members. We used 2 to 3 markers per locus for 6 loci (on chromosomes 1,2,3,14,19,X) previously reported to predispose to MNG and/or familial non-medullary thyroid cancer (FNMTC). On the basis of non-significant logarithm of the odds ratio (LOD) scores or inheritance of different alleles in affected individuals, all loci have been excluded. Thyroidectomy specimens from three members of the kindred show multiple benign lesions, with papillary cancer in two. The morphological features do not resemble those seen in familial adenomatous polyposis, Cowden syndrome, or in multiple oxyphil lesions. From these findings and from the absence of any linkage to any of the known loci associated with MNG or FNMTC, we suggest that this represents a new form of inherited MNG with a significant risk of progression to papillary carcinoma.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Publisher:	BIoScientifica
ISSN:	1351-0088
Last Modified:	15 Mar 2023 16:07
URI:	https://orca.cardiff.ac.uk/id/eprint/69505

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