Key result
Carney complex, caused by inactivating mutations in the PRKAR1A gene, leads to the activation of protein kinase A and increases susceptibility to thyroid neoplasms such as follicular thyroid carcinoma.
Why the study?
To elucidate the intricate molecular mechanisms underlying thyroid tumorigenesis, specifically focusing on the deleterious consequences resulting from the deactivation of the PRKAR1A gene in Carney complex.
This review highlights the role of PRKAR1A gene mutations and the cAMP/PKA signaling pathway in the pathogenesis of thyroid cancer associated with Carney complex, emphasizing surgical intervention as the current preferred treatment.
Current evidence supports surgical management of Carney complex-associated thyroid cancer; leaves open targeted PKA pathway therapies for future development.
Thyroid cancer, being the prevailing form of endocrine malignancy, exhibits a notable surge in its incidence rates. Follicular thyroid carcinoma (FTC) and papillary thyroid carcinoma (PTC) represent the predominant well-differentiated subtypes and are recognized as the most prevalent forms of thyroid carcinomas. Over the course of several years, numerous molecular, genetic, and epigenetic modifications have been discerned in diverse forms of thyroid neoplasms. Common occurrences comprise point mutations in the BRAF and RAS genes, along with chromosomal rearrangements involving the RET/PTC and PAX8/PPARγ genes. Thyroid carcinoma, encompassing both FTC and PTC, has been documented in individuals diagnosed with Carney complex (CNC), a hereditary syndrome passed down in an autosomal dominant manner causing increased susceptibility to diverse neoplasms. CNC manifests as a result of inactivating mutations occurring within the tumor-suppressor gene known as PRKAR1A, which is responsible for encoding the regulatory subunit of protein kinase A (PKA) type 1α. Studies have shown that this mutation leads to activation of PKA, which, in turn, can induce FTC. In this comprehensive review, we aim to elucidate the intricate molecular mechanisms underlying thyroid tumorigenesis, specifically focusing on the deleterious consequences resulting from the deactivation of the PRKAR1A gene.
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Sachdev et al. (2023) conducted a review in Carney Complex and Thyroid Cancer. PRKAR1A mutation was evaluated. Carney complex, caused by inactivating mutations in the PRKAR1A gene, leads to the activation of protein kinase A and increases susceptibility to thyroid neoplasms such as follicular thyroid carcinoma.
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