|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
With the consideration that the catalytic α subunit of protein kinase A (PKA; PRKACA) somatic mutations are the most common finding in adrenal adenomas associated with ACTH-independent Cushing syndrome, our aim was to analyze PRKACA mutations in adrenals of patients with persistent/long-standing CD.
|
31276155 |
2019 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Four APAs showed a predominant (≥50%) zona fasciculata-like cell pattern: one tumor had CYP11B1 H-score = 150, no detectable CYP11B2 expression, and harbored a PRKACA p.Leu206Arg mutation (that we have reported previously elsewhere), one had no CYP11B1 expression, CYP11B2 H-score = 40, and no mutations; the remaining two adenomas had high CYP11B1 H-score (160 and 240, respectively) and low CYP11B2 H-score (30 and 15, respectively), with the latter harboring a CTNNB1 p.Ser45Phe activating mutation.
|
28405879 |
2017 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
PRKACA Somatic Mutations Are Rare Findings in Aldosterone-Producing Adenomas.
|
27270477 |
2016 |
|
Adenoma
|
0.100 |
Biomarker
|
group |
BEFREE |
We sequenced PRKACA, GNAS and CTNNB1 genes in 108 patients, including 60 patients with CPAs (57 with unilateral and three with bilateral adenomas), 13 with nonfunctional adenomas, 12 with adrenocortical carcinomas (ACCs), 15 with primary bilateral macronodular hyperplasia (PBMAH) and eight with aldosterone and cortisol cosecreting adenomas.
|
27296931 |
2016 |
|
Adenoma
|
0.100 |
Biomarker
|
group |
BEFREE |
All of the adenomas were negative for PRKACA rearrangements by Fluorescence in situ Hybridization (FISH) analysis.
|
27015136 |
2016 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Targeting PRKACA mutations is promising in treating CS caused by adrenal adenomas.
|
27454103 |
2016 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recent genetic studies have identified a somatic PRKACA(L206R) mutation as a cause of cortisol-producing adenomas.
|
25750087 |
2015 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
During the last year, a report by our group and three additional independent groups showed that somatic mutations of PRKACA, the gene coding for the catalytic subunit α of PKA, are a common genetic alteration in patients with Cushing's syndrome due to adrenal adenomas, occurring in 35-65% of the patients.
|
26139209 |
2015 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Somatic mutations of β-catenin and PRKACA are observed in non secreting or cortisol producing adenomas, respectively.
|
26038203 |
2015 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Exome sequencing revealed somatic mutations in PRKACA, which encodes the catalytic subunit of cyclic AMP-dependent protein kinase (protein kinase A [PKA]), in 8 of 10 adenomas (c.617A→C in 7 and c.595_596insCAC in 1).
|
24571724 |
2014 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patients with somatic PRKACA mutations showed higher levels of cortisol after dexamethasone test and a smaller adenoma size, compared with nonmutated subjects.
|
25057884 |
2014 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Somatic mutations of the catalytic subunit of cyclic AMP-dependent protein kinase (PRKACA) gene in Japanese patients with several adrenal adenomas secreting cortisol [Rapid Communication].
|
25069672 |
2014 |