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Attempting to Solve the Pigmented Epithelioid Melanocytoma (PEM) Conundrum: PRKAR1A Inactivation Can Occur in Different Genetic Backgrounds (Common, Blue, and Spitz Subgroups) With Variation in Their Clinicopathologic Characteristics.
de la Fouchardiere A, Tirode F, Castillo C, Buisson A, Boivin F, Macagno N, Pissaloux D. de la Fouchardiere A, et al. Am J Surg Pathol. 2022 Aug 1;46(8):1106-1115. doi: 10.1097/PAS.0000000000001888. Epub 2022 Mar 22. Am J Surg Pathol. 2022. PMID: 35319526 Free article.
Here, we present a series of 21 cases of PRKAR1A -inactivated melanocytic tumors in which we could assess the associated genetic background. ...The genetic background of PRKAR1A -inactivated melanocytic tumors should be systematically explored to better understand t …
Here, we present a series of 21 cases of PRKAR1A -inactivated melanocytic tumors in which we could assess the associated genetic back …
Pituitary tumours: molecular and genetic aspects.
De Sousa SMC, Lenders NF, Lamb LS, Inder WJ, McCormack A. De Sousa SMC, et al. J Endocrinol. 2023 May 12;257(3):e220291. doi: 10.1530/JOE-22-0291. Print 2023 Jun 1. J Endocrinol. 2023. PMID: 36951812 Review.
This includes variants in established pituitary adenoma/hyperplasia predisposition genes (MEN1, PRKAR1A, AIP, CDKN1B, GPR101, SDHA, SDHB, SDHC, SDHD, SDHAF2) as well as emerging genetic associations. ...
This includes variants in established pituitary adenoma/hyperplasia predisposition genes (MEN1, PRKAR1A, AIP, CDKN1B, GPR101, SDHA, S …
The molecular genetics of adrenal cushing.
Vaduva P, Bertherat J. Vaduva P, et al. Hormones (Athens). 2024 Dec;23(4):601-610. doi: 10.1007/s42000-024-00608-0. Epub 2024 Oct 10. Hormones (Athens). 2024. PMID: 39388056 Review.
Rarely, ACC is described in other hereditary tumor syndromes due to germline pathogenic variants in MEN1 or APC and, in very rare cases, NF1, SDH, PRKAR1A, or BRCA2. Concerning ACC somatic alterations, TP53 and genetic or epigenetic alterations at the 11p15 locus are also …
Rarely, ACC is described in other hereditary tumor syndromes due to germline pathogenic variants in MEN1 or APC and, in very rare cases, NF1 …
Novel PRKAR1A mutation in Carney complex: a case report and literature review.
Zheng H, Kang H, Qiu Y, Xie L, Wu J, Lai P, Kang J. Zheng H, et al. Front Endocrinol (Lausanne). 2024 Jul 10;15:1384956. doi: 10.3389/fendo.2024.1384956. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39050568 Free PMC article. Review.
OBJECTIVE: Carney complex is a rare autosomal dominant syndrome that has been shown to be associated with inactivation due to PRKAR1A mutations. We revealed a novel PRKAR1A gene mutation in Chinese patient with Carney complex and review the literature to enhance und …
OBJECTIVE: Carney complex is a rare autosomal dominant syndrome that has been shown to be associated with inactivation due to PRKAR1A …
Identification of crucial genes involved in thyroid cancer development.
Kalarani IB, Sivamani G, Veerabathiran R. Kalarani IB, et al. J Egypt Natl Canc Inst. 2023 May 22;35(1):15. doi: 10.1186/s43046-023-00177-0. J Egypt Natl Canc Inst. 2023. PMID: 37211566 Review.
To perform an electronic literature search, genes derived from DisGeNET: a database of gene-disease associations, including PRKAR1A, BRAF, RET, NRAS, and KRAS, are used. CONCLUSION: Examining the genetics of thyroid cancer explicitly emphasizes the primary genes associated …
To perform an electronic literature search, genes derived from DisGeNET: a database of gene-disease associations, including PRKAR1A, …
Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma.
Mellid S, Gil E, Letón R, Caleiras E, Honrado E, Richter S, Palacios N, Lahera M, Galofré JC, López-Fernández A, Calatayud M, Herrera-Martínez AD, Galvez MA, Matias-Guiu X, Balbín M, Korpershoek E, Lim ES, Maletta F, Lider S, Fliedner SMJ, Bechmann N, Eisenhofer G, Canu L, Rapizzi E, Bancos I, Robledo M, Cascón A. Mellid S, et al. Front Endocrinol (Lausanne). 2023 Jan 25;13:1070074. doi: 10.3389/fendo.2022.1070074. eCollection 2022. Front Endocrinol (Lausanne). 2023. PMID: 36760809 Free PMC article.
RESULTS: Amongst 23 patients carrying germline NF1 mutations, targeted sequencing revealed additional pathogenic germline variants in DLST (n=1) and MDH2 (n=2), and two somatic mutations in H3-3A and PRKAR1A. Three additional patients, with somatic mutations in NF1 were fo …
RESULTS: Amongst 23 patients carrying germline NF1 mutations, targeted sequencing revealed additional pathogenic germline variants in DLST ( …
Identification of Key Genes and Imbalanced SNAREs Assembly in the Comorbidity of Polycystic Ovary Syndrome and Depression.
Cao Y, Wang W, Song X, Wen Q, Xie J, Zhang D. Cao Y, et al. Genes (Basel). 2024 Apr 15;15(4):494. doi: 10.3390/genes15040494. Genes (Basel). 2024. PMID: 38674428 Free PMC article.
RESULTS: In this study, three key genes, namely, SNAP23, VTI1A, and PRKAR1A, and their related SNARE interactions in the vesicular transport pathway were identified in the comorbidity of PCOS and depression. The rs112568544 at SNAP23, rs11077579 and rs4458066 at PRKAR1A …
RESULTS: In this study, three key genes, namely, SNAP23, VTI1A, and PRKAR1A, and their related SNARE interactions in the vesicular tr …
Targeted Mutational Analysis of Cortisol-Producing Adenomas.
Rege J, Hoxie J, Liu CJ, Cash MN, Luther JM, Gellert L, Turcu AF, Else T, Giordano TJ, Udager AM, Rainey WE, Nanba K. Rege J, et al. J Clin Endocrinol Metab. 2022 Jan 18;107(2):e594-e603. doi: 10.1210/clinem/dgab682. J Clin Endocrinol Metab. 2022. PMID: 34534321 Free PMC article.
CONTEXT: Somatic gene mutations have been identified in only about half of cortisol-producing adenomas (CPAs). Affected genes include PRKACA, GNAS, PRKAR1A, and CTNNB1. OBJECTIVE: This work aims to expand our understanding of the prevalence of somatic mutations in CPAs fro …
CONTEXT: Somatic gene mutations have been identified in only about half of cortisol-producing adenomas (CPAs). Affected genes include PRKACA …
Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review.
Wang H, Mao M, Liu D, Duan L. Wang H, et al. Front Endocrinol (Lausanne). 2022 Sep 23;13:951133. doi: 10.3389/fendo.2022.951133. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36213268 Free PMC article.
BACKGROUND AND OBJECTIVES: It is currently controversial whether subclinical hyperthyroidism is associated with PRKAR1A gene variants. We describe a man with subclinical hyperthyroidism and a PRKAR1A gene variant who was diagnosed with Carney complex (CNC), and we p …
BACKGROUND AND OBJECTIVES: It is currently controversial whether subclinical hyperthyroidism is associated with PRKAR1A gene variants …
The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.
Sun J, Ding L, He L, Fu H, Li R, Feng J, Dong J, Liao L. Sun J, et al. Front Endocrinol (Lausanne). 2024 Jun 26;15:1356870. doi: 10.3389/fendo.2024.1356870. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39006359 Free PMC article.

There was a significant correlation between PRKAR1A pathogenic variant and spotty skin pigmentation in CNC concurrent with PPNAD (p < 0.05). ...Patients with PPNAD with spotty skin pigmentation should consider the PRKAR1A pathogenic variant and pay attention to C

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There was a significant correlation between PRKAR1A pathogenic variant and spotty skin pigmentation in CNC concurrent with PPNAD (p & …
48 results