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Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case

We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplasia type 2A with RET mutation S891A. Bilateral pheochromocytomas were identified in a 54-year-old woman. Screening for RET revealed a rare S891A mutation located in the intracellular tyrosine kinase do...

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Autores principales: Hibi, Yatsuka, Ohye, Tamae, Ogawa, Kimio, Shimizu, Yoshimi, Shibata, Masahiro, Kagawa, Chikara, Mizuno, Yutaka, Uchino, Shinya, Kosugi, Shinji, Kurahashi, Hiroki, Iwase, Katsumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Japan 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4194010/
https://www.ncbi.nlm.nih.gov/pubmed/24449023
http://dx.doi.org/10.1007/s00595-013-0826-8
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author Hibi, Yatsuka
Ohye, Tamae
Ogawa, Kimio
Shimizu, Yoshimi
Shibata, Masahiro
Kagawa, Chikara
Mizuno, Yutaka
Uchino, Shinya
Kosugi, Shinji
Kurahashi, Hiroki
Iwase, Katsumi
author_facet Hibi, Yatsuka
Ohye, Tamae
Ogawa, Kimio
Shimizu, Yoshimi
Shibata, Masahiro
Kagawa, Chikara
Mizuno, Yutaka
Uchino, Shinya
Kosugi, Shinji
Kurahashi, Hiroki
Iwase, Katsumi
author_sort Hibi, Yatsuka
collection PubMed
description We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplasia type 2A with RET mutation S891A. Bilateral pheochromocytomas were identified in a 54-year-old woman. Screening for RET revealed a rare S891A mutation located in the intracellular tyrosine kinase domain. This mutation was previously recognized as one of the mutations only in cases manifesting solely medullary thyroid carcinomas (MTCs). Since calcitonin stimulation test indicated positive result, total thyroidectomy was performed 1 year after the bilateral adrenalectomy, and C-cell hyperplasia was diagnosed by histopathological examination. Our report suggests that cases with S891A mutation, akin to those with other RET mutations, require screening for pheochromocytoma. In addition, it is indicated that calcitonin stimulation test should be performed even in the unaffected elder cases with S891A mutation although the mutation is classified as lowest risk group on MTC in guidelines.
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spelling pubmed-41940102014-10-15 Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case Hibi, Yatsuka Ohye, Tamae Ogawa, Kimio Shimizu, Yoshimi Shibata, Masahiro Kagawa, Chikara Mizuno, Yutaka Uchino, Shinya Kosugi, Shinji Kurahashi, Hiroki Iwase, Katsumi Surg Today Case Report We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplasia type 2A with RET mutation S891A. Bilateral pheochromocytomas were identified in a 54-year-old woman. Screening for RET revealed a rare S891A mutation located in the intracellular tyrosine kinase domain. This mutation was previously recognized as one of the mutations only in cases manifesting solely medullary thyroid carcinomas (MTCs). Since calcitonin stimulation test indicated positive result, total thyroidectomy was performed 1 year after the bilateral adrenalectomy, and C-cell hyperplasia was diagnosed by histopathological examination. Our report suggests that cases with S891A mutation, akin to those with other RET mutations, require screening for pheochromocytoma. In addition, it is indicated that calcitonin stimulation test should be performed even in the unaffected elder cases with S891A mutation although the mutation is classified as lowest risk group on MTC in guidelines. Springer Japan 2014-01-22 2014 /pmc/articles/PMC4194010/ /pubmed/24449023 http://dx.doi.org/10.1007/s00595-013-0826-8 Text en © The Author(s) 2014 https://creativecommons.org/licenses/by/2.0/ Open AccessThis article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.
spellingShingle Case Report
Hibi, Yatsuka
Ohye, Tamae
Ogawa, Kimio
Shimizu, Yoshimi
Shibata, Masahiro
Kagawa, Chikara
Mizuno, Yutaka
Uchino, Shinya
Kosugi, Shinji
Kurahashi, Hiroki
Iwase, Katsumi
Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case
title Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case
title_full Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case
title_fullStr Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case
title_full_unstemmed Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case
title_short Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case
title_sort pheochromocytoma as the first manifestation of men2a with ret mutation s891a: report of a case
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4194010/
https://www.ncbi.nlm.nih.gov/pubmed/24449023
http://dx.doi.org/10.1007/s00595-013-0826-8
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