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Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma

Overview of attention for article published in Arquivos Brasileiros de Endocrinologia & Metabologia, November 2012
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Title
Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma
Published in
Arquivos Brasileiros de Endocrinologia & Metabologia, November 2012
DOI 10.1590/s0004-27302012000800008
Pubmed ID
Authors

César Luiz Boguszewski, Tayane Muniz Fighera, Andressa Bornschein, Fabricio Machado Marques, Judit Dénes, Eleanor Rattenbery, Eamonn R. Maher, Karen Stals, Sian Ellard, Marta Korbonits

Abstract

We report on an adult woman with rare coexistence of acromegaly, pheochromocytoma (PHEO), gastrointestinal stromal tumor (GIST), intestinal polyposis, and thyroid follicular adenoma. At the age of 56, she was diagnosed with acromegaly caused by a pituitary macroadenoma, treated by transsphenoidal surgery, radiotherapy, and octreotide. During routine colonoscopy, multiple polyps were identified as tubular adenomas with high-grade dysplasia on histology. Years later, an abdominal mass of 8.0 x 6.2 cm was detected by routine ultrasound. Surgical exploration revealed an adrenal mass and another tumor adhered to the lesser gastric curvature, which were removed. Pathology confirmed the diagnosis of PHEO and GIST. PHEO immunohistochemistry was negative for GHRH. During follow-up, nodular goiter was found with normal levels of calcitonin and inconclusive cytology. Near-total thyroidectomy was performed, revealing a follicular adenoma. Her family history was negative for all of these tumor types. Genetic analysis for PHEO/paraganglioma genes (SDH A-D, SDHAF2, RET, VHL, TMEM127, and MAX), and pituitary-related genes (AIP, MEN1, and p27) were negative. Though the finding of PHEO and acromegaly with multiple other tumors could be a fortuitous coexistence, we suggest that this case may represent a new variant of MEN syndrome with a de novo germline mutation in a not yet identified gene.

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Mendeley readers

The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 25 100%

Demographic breakdown

Readers by professional status Count As %
Professor > Associate Professor 1 4%
Researcher 1 4%
Unknown 23 92%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 1 4%
Unknown 24 96%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 09 January 2013.
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#3,293,339
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Outputs from Arquivos Brasileiros de Endocrinologia & Metabologia
#1
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Outputs of similar age
#188,475
of 284,159 outputs
Outputs of similar age from Arquivos Brasileiros de Endocrinologia & Metabologia
#1
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