Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors
نویسندگان
چکیده
منابع مشابه
The activating TERT promoter mutation C228T is recurrent in subsets of adrenal tumors
The telomerase reverse transcriptase gene (TERT) encodes the reverse transcriptase component of the telomerase complex, which is essential for telomere stabilization and cell immortalization. Recent studies have demonstrated a transcriptional activation role for the TERT promoter mutations C228T and C250T in many human cancers, as well as a role in aggressive disease with potential clinical app...
متن کاملA case of asymptomatic cortisol producing adrenal adenoma.
We describe a man without the clinical findings of Cushing's syndrome, but who harbored an incidentally found cortisol-producing adrenal adenoma. On adrenal 131I-adsterol imaging, there was good uptake to the nodule, but no visualization of the contralateral adrenal. No abnormalities were found in the basal plasma cortisol, ACTH, urinary free cortisol and 17OHCS. However, dynamic hormone assess...
متن کاملDiagnosing a Unilateral Cortisol-Producing Adrenal Adenoma in a Patient on Exogenous Glucocorticoids
Cushing syndrome due to the administration of pharmacologic doses of glucocorticoids is common, whereas hypercortisolism from an adrenal mass is quite rare. Adrenal masses are incidentally detected with a prevalence ranging from 8.7–12.4%, and most of these lesions are hormonally inactive. In this article, we describe a unique patient with a glucocorticoid-producing adrenal mass who was diagnos...
متن کاملCT and MR imaging of the adrenal glands in cortisol-secreting tumors.
Cushing's syndrome (CS), first described by the neurosurgeon Harvey Cushing in the 1930s, is the result of chronic glucocorticoid excess. In patients with adreno-corticotropic hormone (ACTH)-dependent CS, bilateral hyperplasia of the adrenal cortex occurs, while in those with ACTH-independent primary CS, either adrenocortical tumors or primary adrenal hyperplasia can be observed. Cortisol-secre...
متن کاملImmunoperoxidase stains cortisol in adrenal and pituitary.
The unlabeled peroxidase-anti-peroxidase (PAP) method of Sternberger was used to localize cortisol within paraffin embedded sections of cat adrenal and pituitary tissue. Incubation of the cortisol antiserum used in this method with increasing concentrations of cortisol led to progressive extinction of cortisol staining of the adrenal fasciculata cells, (as measured with a scanning integrating m...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2014
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.2956