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Carney Complex
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Specifically, as the regulatory subunit of the protein kinase A, PRKAR1A interacts with two catalytic subunits to form the PKA heterotetramer. PRKAR1A defects cause PRKAR1A haploinsufficiency and compromise its regulatory function, leading to unrestrained catalytic subunit activity, increased cell proliferation in cAMP-responsive tissues, and tumor formation [7].
Endocrinology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Mehul Dattani, Catherine Peters
Cushing syndrome can be iatrogenic, due to a corticotrophin releasing hormone (CRH)-or ACTHsecreting tumour (either in the pituitary gland or due to ectopic secretion of the stimulating hormone), ACTH-independent Cushing syndrome due to adrenal neoplasms or nodular adrenal hyperplasia. This may be familial, as in the Carney complex (bilateral micronodular adrenal hyperplasia, pigmented lentigines, atrial myxomas and other tumours). Up to 50% of cases of the Carney complex are caused by mutations in the PRKAR1A gene. McCune–Albright syndrome (see page 393) can also lead to primary adrenal Cushing syndrome.
Nodular Thyroid Disease with Aging
Published in Shamim I. Ahmad, Aging: Exploring a Complex Phenomenon, 2017
Enke Baldini, Salvatore Sorrenti, Antonio Catania, Francesco Tartaglia, Daniele Pironi, Massimo Vergine, Massimo Monti, Angelo Filippini, Salvatore Ulisse
DTC is generally sporadic. Familial forms are responsible for 3%–6% of cases, and are observed in familial syndromes including: (i) familial adenomatous polyposis, characterized by mutations in the APC (adenomatosis polyposis coli) gene; (ii) Cowden disease, characterized by mutations in the PTEN (phosphatase and tensin homolog) gene; (iii) Werner syndrome, associated with mutations in the WRN (Werner syndrome, RecQ helicase-like) gene; (iv) Carney complex, showing mutations in the PRKAR1A (protein kinase, cAMP-dependent, regulatory subunit type I alpha) gene. In addition, susceptibility gene loci have been identified in other familial syndromes in which PTC is associated with papillary renal carcinomas (1q21), clear-cell renal-cell carcinoma (p14.2;q24.1) [3,10], and multinodular goiter (19p13.2) [10,22,23].
Carney complex syndrome manifesting as cardioembolic stroke: a case report and review of the literature
Published in International Journal of Neuroscience, 2022
S. Chatzikonstantinou, D. Kazis, P. Giannakopoulou, P. Poulios, O. Pikou, T. Geroukis, C. Lyssikatos, C. A Stratakis, S. Bostanjopoulou
Carney complex (CNC) is a rare multiple neoplasia syndrome primarily caused by mutations in the gene encoding the regulatory subunit type I alpha of protein kinase A (PRKAR1A) [1,2]. The PRKAR1A gene is a tumor suppressor gene and more than 120 different mutations have been reported throughout the coding region (http://PRKAR1A.nichd.nih.gov) [3,4]. Inactivating mutations of the PRKAR1A gene, subject to nonsense-mediated mRNA decay (NMD), leading to RIalpha haploinsufficiency and activated cAMP signaling, are identified as the most common cause of the disease [4–6]. PRKAR1A haploinsufficiency leads to an increase in total cAMP-stimulated kinase activity [7,8].
A case of a giant right ventricular myxoma in the multimodality imaging era
Published in Acta Cardiologica, 2018
Bruno Brochado, Patrícia Rodrigues, Sara Magalhães, Henrique Carvalho, Severo Torres
Cardiac magnetic resonance imaging confirmed these findings, excluded local invasion and tissue characterisation with gadolinium exhibited heterogeneous delayed contrast enhancement typical of myxoma. Computerised tomography excluded other cardiac masses or congenital anomalies. This test established the presence of a pedunculated tumour in a subpulmonary position without valve involvement (Figure 1). Genetic testing for Carney syndrome, namely PRKAR1A mutation, was negative. Surgical resection was performed without complications and histology confirmed the diagnosis of a myxoma. After twelve months of follow-up, there was no recurrence of the tumour.
Primary pigmented nodular adrenocortical disease (PPNAD) as an underlying cause of symptoms in a patient presenting with hirsutism and secondary amenorrhea: case report and literature review
Published in Gynecological Endocrinology, 2018
Ewa Cyranska-Chyrek, Dorota Filipowicz, Ewelina Szczepanek-Parulska, Marta Nowaczyk, Urszula Ambroziak, Sadegh Toutounchi, Łukasz Koperski, Tomasz Bednarczuk, Blazej Meczekalski, Marek Ruchała
In the literature, we found few descriptions of women with iPPNAD, similar to ours, whose most bothering complaints were gynecological problems. Korpaisarn et al. [37] described a 31-year-old woman with secondary amenorrhea for 5 months, weight gain, facial acne, cushingoid features, hypertension, who suffered from iPPNAD. In contrast to our patient, she did not demonstrate paradoxical rise of cortisol in UFC during Liddle’s test and additionally she had a right adrenal nodule suspected for adenoma. Following adrenalectomy, iPPNAD was confirmed and remission of symptoms was observed. Genetic testing of the family revealed heterozygosity in a novel PRKAR1A gene mutation, c.709–5T>G, in a patient and also her father, who was surprisingly asymptomatic. Hence, in contrast to almost full penetrance in case of inherited CC, the novel mutation presents low penetrance, that may be dependent on microenvironmental factors concerning gender and puberty [38]. Groussin et al. [8] have studied apparently unrelated patients with CS due to iPPNAD from all over the world. They elicited 12 kindreds with the same germline deletion of 6-bp polypyrimidine tract in exon 7 IVS del (-7-> -2) of PRKAR1A gene. Moreover, the genotype of these patients was expressed in homogenous mild phenotype, low expression and typical almost entirely for isolated form of PPNAD. Interestingly, the mutation was further detected in relatives of about half of the patients, whose DNA could be analyzed. Patients were mainly females within the age range 13–39 years old, presenting mild ACTH-independent CS with typical macro- and microscopic image of adrenals. It is believed to be the first correlation between genotype and phenotype in case of PRKAR1A gene. Similarly, the case of 17-year-old female with the same mutation as above and final iPPNAD diagnosis referred for acne, hirsutism, oligo-amenorrhea, weight gain and hypertension. After screening her 19-year-old obese and hypertensive sister was diagnosed with CS and in both cases iPPNAD was confirmed on histopathologic evaluation following adrenalectomy. Moreover, the same mutation was detected in her mother and maternal grandfather [39]. Our patient was within the similar age group and presented with equal complaints. Due to the clinical resemblance we suspected the woman to be a carrier of above PRKAR1A gene mutation. Alternatively, we presumed also PDE11A gene mutation located in 2q31.2, because according to Horvath et al. [34] it occurs frequently in patients with iPPNAD. However, no mutation in any of the described up to date genes in the literature for iPPNAD and CC was found [40].