A novel &amp;lt;i&amp;gt;PRKAR1A&amp;lt;/i&amp;gt; mutation resulting in a splicing variant in a case of Carney complex

Jang, Yi Sun; Moon, Sung Dae; Kim, Ju Hee; Lee, Ihn Suk; Lee, Jong Min; Kim, Hye Soo

doi:10.3904/kjim.2015.30.5.730

Cited by 3 publications

(3 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…First described in 1985 by J. Aidan Carney as the combination of myxomas, spotty pigmentation and endocrine overactivity, it has since been further characterized by osteochrondomyxomas, recurrent cardiac myxomas (the lethal component of CNC), cutaneous and bilateral breast myxomas, multiple endocrine neoplasms, psammomatous melanotic schwannomas, pigmented mucosal and skin lesions, large-cell calcifying Sertoli cell tumors, growth hormone–secreting pituitary adenomas , and breast ductal adenomas [2], [6], [7], [8], [9], [10]. Diagnosis is based on the presence of at least two of these clinical criteria, confirmed by histology or one criterion and either a first-degree family history of CNC or a PRKAR1A mutation (HGNC:9388) [3], [6].…”

Section: Introductionmentioning

confidence: 99%

Osteochondromyxoma: Review of a rare carney complex criterion

Golden

Siordia

2016

Journal of Bone Oncology

View full text Add to dashboard Cite

Osteochondromyxoma is an extremely rare bone tumor associated with 1% of Carney complex patients and constitutes one of its 11 diagnostic criteria. This narrative review of osteochondromyxoma is based on a search of all references to the topic in PubMed, Web Of Science, SCOPUS, ScienceDirect, and JSTOR databases. Special attention was focused on case reports, leading to a review encompassing the case reports to date, as well as related animal model studies. This review covers the current understanding of osteochondromyxoma, highlighting its variability while providing consensus on the most common clinical presentation, pathological findings, and genetic features of this rare bone tumor.

show abstract

Section: Introductionmentioning

confidence: 99%

Osteochondromyxoma: Review of a rare carney complex criterion

Golden

Siordia

2016

Journal of Bone Oncology

View full text Add to dashboard Cite

show abstract

“…Less common than conventional FAs, MFAs are known to develop sporadically; however, these lesions have also been associated with Carney complex . Carney complex is an inheritable, autosomal dominant condition caused by inactivating germline mutations of PRKAR1A in approximately two‐thirds of cases . This syndrome is characterized by spotty skin pigmentation, endocrine overactivity, and an increased risk of tumour development.…”

Section: Introductionmentioning

confidence: 99%

“…2,3 Carney complex is an inheritable, autosomal dominant condition caused by inactivating germline mutations of PRKAR1A in approximately two-thirds of cases. [3][4][5][6] This syndrome is characterized by spotty skin pigmentation, endocrine overactivity, and an increased risk of tumour development. The spectrum of tumours associated with Carney complex consists mainly of myxomas, ranging from cutaneous myxomas to cardiac myxomas; psammomatous melanotic schwannomas and pituitary adenomas are also common in this condition.…”

Section: Introductionmentioning

confidence: 99%

Myxoid fibroadenomas differ from conventional fibroadenomas: a hypothesis‐generating study

et al. 2017

View full text Add to dashboard Cite

Aims Breast myxoid fibroadenomas (MFAs) are characterized by a distinctive hypocellular myxoid stroma, and occur sporadically or in the context of Carney Complex, an inheritable condition caused by PRKAR1A inactivating germline mutations. Conventional fibroadenomas (FAs) are underpinned by recurrent MED12 mutations in the stromal components of the lesions. We sought to investigate the genomic landscape of MFAs and compare it to that of conventional FAs. Methods and Results Eleven MFAs from patients without clinical and/or genetic evidence of Carney Complex were retrieved. DNA samples of tumor and matching normal tissue were subjected to massively parallel sequencing using MSK-IMPACT, an assay targeting 410 cancer genes. Genetic alterations detected by MSK-IMPACT were tested in samples where the stromal and epithelial components were separately laser capture microdissected. Sequencing revealed no germline PRKAR1A mutations and non-synonymous mutations detected in six MFAs. Interestingly, in three of the MFAs where stromal and epithelial components were separately microdissected, the mutations were found to be restricted to the epithelial rather than the stromal component. The sole exception was a lesion harboring a somatic truncating PRKAR1A mutation. Upon histologic re-review, this case was reclassified as a breast myxoma, consistent with the spectrum of tumors observed in Carney Complex patients. In this case, the PRKAR1A somatic mutation was restricted to the stromal component. Conclusion MFAs lack MED12 mutations and their stromal component seems not to harbor mutations in the 410 cancer genes tested. Whole-exome and/or whole-genome analyses of MFAs are required to elucidate their genetic drivers.

show abstract

Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review

et al. 2022

View full text Add to dashboard Cite

Background and ObjectivesIt 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 performed a systematic review of published studies to assess the association between PRKAR1A gene variants and the risk of subclinical hyperthyroidism.Design and MethodsThe PubMed, EMBASE, OVID, Science Direct, and gray literature electronic databases were searched for articles published from January 2002 to May 2021 using predefined keywords and inclusion and exclusion criteria. Data on thyroid function from selected studies were extracted and analyzed.ResultsWe identified a CNC patient with a subclinical hyperthyroidism phenotype combined with multiple components and genetic sequenced data. In a subsequent systematic review, twenty selected studies (14 case studies and 6 series studies) enrolling 23 individuals were included in the final analysis. The patient’s thyroid function data were qualitative in 11 cases and quantitative in 12 cases. The prevalence of subclinical hyperthyroidism in the CNC patients with a PRKAR1A gene variant, including our patient, was markedly higher than that in the normal population (12.5% vs. 2%)ConclusionsThe findings of this systematic review provide helpful evidence that PRKAR1A gene variants and subclinical hyperthyroidism are related and suggest that subclinical hyperthyroidism may be a neglected phenotype of PRKAR1A gene variants and a novel component of CNC patients.Systematic Review Registrationhttps://www.crd.york.ac.uk/PROSPERO, identifier CRD42021197655.

show abstract

A novel <i>PRKAR1A</i> mutation resulting in a splicing variant in a case of Carney complex

Cited by 3 publications

References 6 publications

Osteochondromyxoma: Review of a rare carney complex criterion

Osteochondromyxoma: Review of a rare carney complex criterion

Myxoid fibroadenomas differ from conventional fibroadenomas: a hypothesis‐generating study

Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review

Contact Info

Product

Resources

About