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...

Descripción completa

Detalles Bibliográficos
Autor principal: Gupta, Rishabh
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