Aggressive metastatic follicular thyroid carcinoma with anaplastic transformation arising from a long-standing goiter in a patient with Pendred's syndrome.

Details

Serval ID
serval:BIB_E5D21458B1BC
Type
Article: article from journal or magazin.
Collection
Publications
Title
Aggressive metastatic follicular thyroid carcinoma with anaplastic transformation arising from a long-standing goiter in a patient with Pendred's syndrome.
Journal
Thyroid
Author(s)
Camargo R., Limbert E., Gillam M., Henriques M.M., Fernandes C., Catarino A.L., Soares J., Alves V.A., Kopp P., Medeiros-Neto G.
ISSN
1050-7256 (Print)
ISSN-L
1050-7256
Publication state
Published
Issued date
10/2001
Peer-reviewed
Oui
Volume
11
Number
10
Pages
981-988
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
In this article we describe detailed pathological and molecular genetics studies in a consanguineous kindred with Pendred's syndrome. The index patient was a 53-year-old female patient with congenital deafness and goiter. Her parents were first-degree cousins. She had a large goiter (150 g) that had been present since childhood. One of her sisters and a niece are also deaf and have goiter as well. The presence of Pendred's syndrome was confirmed by a positive perchlorate test and the demonstration of a Mondini malformation. Thyroid function tests (under levothyroxine [LT4] therapy) were in the euthyroid range with a thyrotropin [TSH] level of 2.8 microU/mL (0.2-3.2), a serum total thyroxine (T4) of 90 nmol/L (54-142), and a serum total triiodothyronine (T3) of 2.7 nmol/L (0.8-2.4). Total thyroidectomy was performed, and the mass in the right lobe was found to have invaded adjacent tissues. The histopathological findings were consistent with a follicular carcinoma with areas of anaplastic transformation and lung metastasis. The patient was treated twice with 100 mCi 131iodine (3,700 MBq) and received suppressive doses of LT4. Postoperatively, the serum thyroglobulin (Tg) levels remained markedly elevated (2,352 to 41,336 ng/mL). The patient died of a sudden severe episode of hemoptysis. Sequence analysis of the PDS gene performed with DNA from the two relatives with Pendred's syndrome revealed the presence of a deletion of thymidine 279 in exon 3, a point mutation that results in a frameshift and a premature stop codon at codon 96 in the pendrin molecule. We concluded that prolonged TSH stimulation because of iodine deficiency or dyshormonogenesis in combination with mutations of oncogenes and/or tumor suppressor genes, may result in the development of follicular thyroid carcinomas that undergo transformation into anaplastic cancers. It is likely that these pathogenetic mechanisms have been involved in the development of aggressive metastatic thyroid cancer in this unusual patient with Pendred's syndrome.
Keywords
Adult, Amino Acid Sequence, Anaplasia, Base Sequence, Carrier Proteins/genetics, Consanguinity, DNA/genetics, DNA Mutational Analysis, Deafness/complications, Deafness/congenital, Deafness/genetics, Female, Goiter/complications, Goiter/genetics, Humans, Lung Neoplasms/secondary, Male, Membrane Transport Proteins, Middle Aged, Mutation, Pedigree, Sulfate Transporters, Syndrome, Thyroid Neoplasms/complications, Thyroid Neoplasms/genetics, Thyroid Neoplasms/pathology
Pubmed
Web of science
Create date
30/12/2020 14:57
Last modification date
31/12/2020 6:26
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