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MEN1 gene mutation with parathyroid carcinoma: first report of a familial case
BACKGROUND: The occurrence of parathyroid carcinoma in multiple endocrine neoplasia type I (MENI) is rare and the 15 cases of malignant parathyroid tumor reported so far have been associated with MENI in individuals and not with multiple members within a family. METHODS: We report on a 61-year-old m...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Bioscientifica Ltd
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704445/ https://www.ncbi.nlm.nih.gov/pubmed/29097378 http://dx.doi.org/10.1530/EC-17-0207 |
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author | Cinque, Luigia Sparaneo, Angelo Salcuni, Antonio S de Martino, Danilo Battista, Claudia Logoluso, Francesco Palumbo, Orazio Cocchi, Roberto Maiello, Evaristo Graziano, Paolo Hendy, Geoffrey N Cole, David E C Scillitani, Alfredo Guarnieri, Vito |
author_facet | Cinque, Luigia Sparaneo, Angelo Salcuni, Antonio S de Martino, Danilo Battista, Claudia Logoluso, Francesco Palumbo, Orazio Cocchi, Roberto Maiello, Evaristo Graziano, Paolo Hendy, Geoffrey N Cole, David E C Scillitani, Alfredo Guarnieri, Vito |
author_sort | Cinque, Luigia |
collection | PubMed |
description | BACKGROUND: The occurrence of parathyroid carcinoma in multiple endocrine neoplasia type I (MENI) is rare and the 15 cases of malignant parathyroid tumor reported so far have been associated with MENI in individuals and not with multiple members within a family. METHODS: We report on a 61-year-old male, operated for a 7.3 cm parathyroid carcinoma infiltrating the esophagus. In his brother, a 4.6 cm parathyroid carcinoma was diagnosed histologically, while in the daughter, neck ultrasonography revealed 2 extrathyroidal nodules, yet to be excised. RESULTS: Screening of the MEN1 gene identified a known germline heterozygous missense mutation (c.1252G>A; p.D418N) in exon 9, in all affected subjects. CONCLUSIONS: The occurrence of parathyroid carcinoma in more than one affected member of a single MEN1 family represents the first reported familial case. This suggests that additional constitutional genetic mutations may contribute to the variation in malignant potential and clinical behavior of parathyroid tumors in MEN1. |
format | Online Article Text |
id | pubmed-5704445 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Bioscientifica Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-57044452017-12-04 MEN1 gene mutation with parathyroid carcinoma: first report of a familial case Cinque, Luigia Sparaneo, Angelo Salcuni, Antonio S de Martino, Danilo Battista, Claudia Logoluso, Francesco Palumbo, Orazio Cocchi, Roberto Maiello, Evaristo Graziano, Paolo Hendy, Geoffrey N Cole, David E C Scillitani, Alfredo Guarnieri, Vito Endocr Connect Research BACKGROUND: The occurrence of parathyroid carcinoma in multiple endocrine neoplasia type I (MENI) is rare and the 15 cases of malignant parathyroid tumor reported so far have been associated with MENI in individuals and not with multiple members within a family. METHODS: We report on a 61-year-old male, operated for a 7.3 cm parathyroid carcinoma infiltrating the esophagus. In his brother, a 4.6 cm parathyroid carcinoma was diagnosed histologically, while in the daughter, neck ultrasonography revealed 2 extrathyroidal nodules, yet to be excised. RESULTS: Screening of the MEN1 gene identified a known germline heterozygous missense mutation (c.1252G>A; p.D418N) in exon 9, in all affected subjects. CONCLUSIONS: The occurrence of parathyroid carcinoma in more than one affected member of a single MEN1 family represents the first reported familial case. This suggests that additional constitutional genetic mutations may contribute to the variation in malignant potential and clinical behavior of parathyroid tumors in MEN1. Bioscientifica Ltd 2017-10-26 /pmc/articles/PMC5704445/ /pubmed/29097378 http://dx.doi.org/10.1530/EC-17-0207 Text en © 2017 The authors http://creativecommons.org/licenses/by-nc/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) . |
spellingShingle | Research Cinque, Luigia Sparaneo, Angelo Salcuni, Antonio S de Martino, Danilo Battista, Claudia Logoluso, Francesco Palumbo, Orazio Cocchi, Roberto Maiello, Evaristo Graziano, Paolo Hendy, Geoffrey N Cole, David E C Scillitani, Alfredo Guarnieri, Vito MEN1 gene mutation with parathyroid carcinoma: first report of a familial case |
title | MEN1 gene mutation with parathyroid carcinoma: first report of a familial case |
title_full | MEN1 gene mutation with parathyroid carcinoma: first report of a familial case |
title_fullStr | MEN1 gene mutation with parathyroid carcinoma: first report of a familial case |
title_full_unstemmed | MEN1 gene mutation with parathyroid carcinoma: first report of a familial case |
title_short | MEN1 gene mutation with parathyroid carcinoma: first report of a familial case |
title_sort | men1 gene mutation with parathyroid carcinoma: first report of a familial case |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704445/ https://www.ncbi.nlm.nih.gov/pubmed/29097378 http://dx.doi.org/10.1530/EC-17-0207 |
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