Cargando…
Phaeochromocytoma recurrence in a patient with multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2A (MEN2A) is a hereditary syndrome associated with tumours of the endocrine system. Principally, it is characterized by medullary thyroid carcinoma (MTC) with some individuals also developing phaeochromocytoma and hyperparathyroidism. Patients with fewer than two c...
Autor principal: | |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7568962/ https://www.ncbi.nlm.nih.gov/pubmed/33101640 http://dx.doi.org/10.1093/jscr/rjaa387 |
_version_ | 1783596630893658112 |
---|---|
author | Gupta, Rishabh |
author_facet | Gupta, Rishabh |
author_sort | Gupta, Rishabh |
collection | PubMed |
description | Multiple endocrine neoplasia type 2A (MEN2A) is a hereditary syndrome associated with tumours of the endocrine system. Principally, it is characterized by medullary thyroid carcinoma (MTC) with some individuals also developing phaeochromocytoma and hyperparathyroidism. Patients with fewer than two clinical features require either an identification of a germline rearranged in transfection mutation, or MEN2A characteristics in first-degree relatives, to establish a diagnosis of MEN2A. We present the case of a 54-year-old female with MEN2A, diagnosed by genetic screening, due to a substantial history of the disease in her ancestry. This case outlines the successful treatment of recurrent phaeochromocytoma, through the medium of radioactive iobenguane as an adjunct to surgical management. The report focuses particularly on the significance of innovative treatment strategies and forthcoming approaches to improve patient care in treating phaeochromocytoma in MEN2A. |
format | Online Article Text |
id | pubmed-7568962 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-75689622020-10-22 Phaeochromocytoma recurrence in a patient with multiple endocrine neoplasia type 2A Gupta, Rishabh J Surg Case Rep Case Report Multiple endocrine neoplasia type 2A (MEN2A) is a hereditary syndrome associated with tumours of the endocrine system. Principally, it is characterized by medullary thyroid carcinoma (MTC) with some individuals also developing phaeochromocytoma and hyperparathyroidism. Patients with fewer than two clinical features require either an identification of a germline rearranged in transfection mutation, or MEN2A characteristics in first-degree relatives, to establish a diagnosis of MEN2A. We present the case of a 54-year-old female with MEN2A, diagnosed by genetic screening, due to a substantial history of the disease in her ancestry. This case outlines the successful treatment of recurrent phaeochromocytoma, through the medium of radioactive iobenguane as an adjunct to surgical management. The report focuses particularly on the significance of innovative treatment strategies and forthcoming approaches to improve patient care in treating phaeochromocytoma in MEN2A. Oxford University Press 2020-10-17 /pmc/articles/PMC7568962/ /pubmed/33101640 http://dx.doi.org/10.1093/jscr/rjaa387 Text en Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author(s) 2020. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Case Report Gupta, Rishabh Phaeochromocytoma recurrence in a patient with multiple endocrine neoplasia type 2A |
title | Phaeochromocytoma recurrence in a patient with multiple endocrine neoplasia type 2A |
title_full | Phaeochromocytoma recurrence in a patient with multiple endocrine neoplasia type 2A |
title_fullStr | Phaeochromocytoma recurrence in a patient with multiple endocrine neoplasia type 2A |
title_full_unstemmed | Phaeochromocytoma recurrence in a patient with multiple endocrine neoplasia type 2A |
title_short | Phaeochromocytoma recurrence in a patient with multiple endocrine neoplasia type 2A |
title_sort | phaeochromocytoma recurrence in a patient with multiple endocrine neoplasia type 2a |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7568962/ https://www.ncbi.nlm.nih.gov/pubmed/33101640 http://dx.doi.org/10.1093/jscr/rjaa387 |
work_keys_str_mv | AT guptarishabh phaeochromocytomarecurrenceinapatientwithmultipleendocrineneoplasiatype2a |