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The Genetic Aspects of Medullary Thyroid Carcinoma: Recognition and Management
OBJECTIVE: to examine the extent to which clinicians recognize the genetic aspects of medullary thyroid carcinoma (MTC) and undertake appropriate investigation and management of patients and their at-risk relatives. DESIGN: retrospective review of case notes. SUBJECTS: all individuals aged 70 or und...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Royal College of Physicians of London
1996
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5401394/ https://www.ncbi.nlm.nih.gov/pubmed/8912284 |
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author | Williamson, Paula Ponder, Bruce Church, Sarah Fiddler, Magdalen Harris, Rodney |
author_facet | Williamson, Paula Ponder, Bruce Church, Sarah Fiddler, Magdalen Harris, Rodney |
author_sort | Williamson, Paula |
collection | PubMed |
description | OBJECTIVE: to examine the extent to which clinicians recognize the genetic aspects of medullary thyroid carcinoma (MTC) and undertake appropriate investigation and management of patients and their at-risk relatives. DESIGN: retrospective review of case notes. SUBJECTS: all individuals aged 70 or under with a 'raised' calcitonin level during 1990-91. Information was obtained from a questionnaire. Forty-one cases were diagnosed in 1990—91: 10 (24%) multiple endocrine neoplasia (MEN) type 2A, four (10%) MEN type 2B, and 27 (66%) sporadic MTC. Between 1980 and 1989, 87 cases were diagnosed: 20 (23%) MEN type 2A, six (7%) MEN type 2B, four (5%) familial MTC, 53 (61%) sporadic MTC, and four (5%) of uncertain diagnosis. MAIN RESULTS: a pedigree was drawn in only 7/37 (19%) and 26/83 (31%) of cases diagnosed in 1990—91 and 1980—89, respectively, where a family history had been taken. All known hereditary cases were investigated for phaeochromocytoma. In 9/27 (33%) and 14/52 (27%) apparently sporadic cases diagnosed in the two periods respectively, no investigations were performed. Genetic counselling was offered to all known hereditary cases except one, but no offer was made in 11/25 (44%) and 16/52 (31%) apparently sporadic cases. There was no record that screening should be offered to the family in 15/35 (43%) and 25/68 (37%) cases identified from clinical investigations; in the majority it could be argued that it should have been. CONCLUSIONS: this study has shown that clinicians do not always have the necessary training or experience to undertake family studies and screening in this rare disorder. |
format | Online Article Text |
id | pubmed-5401394 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 1996 |
publisher | Royal College of Physicians of London |
record_format | MEDLINE/PubMed |
spelling | pubmed-54013942019-01-22 The Genetic Aspects of Medullary Thyroid Carcinoma: Recognition and Management Williamson, Paula Ponder, Bruce Church, Sarah Fiddler, Magdalen Harris, Rodney J R Coll Physicians Lond Original Papers OBJECTIVE: to examine the extent to which clinicians recognize the genetic aspects of medullary thyroid carcinoma (MTC) and undertake appropriate investigation and management of patients and their at-risk relatives. DESIGN: retrospective review of case notes. SUBJECTS: all individuals aged 70 or under with a 'raised' calcitonin level during 1990-91. Information was obtained from a questionnaire. Forty-one cases were diagnosed in 1990—91: 10 (24%) multiple endocrine neoplasia (MEN) type 2A, four (10%) MEN type 2B, and 27 (66%) sporadic MTC. Between 1980 and 1989, 87 cases were diagnosed: 20 (23%) MEN type 2A, six (7%) MEN type 2B, four (5%) familial MTC, 53 (61%) sporadic MTC, and four (5%) of uncertain diagnosis. MAIN RESULTS: a pedigree was drawn in only 7/37 (19%) and 26/83 (31%) of cases diagnosed in 1990—91 and 1980—89, respectively, where a family history had been taken. All known hereditary cases were investigated for phaeochromocytoma. In 9/27 (33%) and 14/52 (27%) apparently sporadic cases diagnosed in the two periods respectively, no investigations were performed. Genetic counselling was offered to all known hereditary cases except one, but no offer was made in 11/25 (44%) and 16/52 (31%) apparently sporadic cases. There was no record that screening should be offered to the family in 15/35 (43%) and 25/68 (37%) cases identified from clinical investigations; in the majority it could be argued that it should have been. CONCLUSIONS: this study has shown that clinicians do not always have the necessary training or experience to undertake family studies and screening in this rare disorder. Royal College of Physicians of London 1996 /pmc/articles/PMC5401394/ /pubmed/8912284 Text en © Journal of the Royal College of Physicians of London 1996 http://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) , which permits non-commercial use and redistribution provided that the original author and source are credited. |
spellingShingle | Original Papers Williamson, Paula Ponder, Bruce Church, Sarah Fiddler, Magdalen Harris, Rodney The Genetic Aspects of Medullary Thyroid Carcinoma: Recognition and Management |
title | The Genetic Aspects of Medullary Thyroid Carcinoma: Recognition and Management |
title_full | The Genetic Aspects of Medullary Thyroid Carcinoma: Recognition and Management |
title_fullStr | The Genetic Aspects of Medullary Thyroid Carcinoma: Recognition and Management |
title_full_unstemmed | The Genetic Aspects of Medullary Thyroid Carcinoma: Recognition and Management |
title_short | The Genetic Aspects of Medullary Thyroid Carcinoma: Recognition and Management |
title_sort | genetic aspects of medullary thyroid carcinoma: recognition and management |
topic | Original Papers |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5401394/ https://www.ncbi.nlm.nih.gov/pubmed/8912284 |
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