Novel Genetic Mutation in the Background of Carney Complex

Halászlaki, Csaba; Takács, István; Butz, Henriett; Patócs, Attila; Lakatos, Péter L.

doi:10.1007/s12253-012-9502-3

Cited by 9 publications

(5 citation statements)

References 11 publications

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“…The incidence of TC is about 15% [245]. The patients usually develop welldifferentiated carcinomas, both FTC and PTC, sometimes after a long history of multiple adenomas [241,244,256,257]. Hürthle cell adenoma has been reported in a boy with CNC [258].…”

Section: Pathological Featuresmentioning

confidence: 99%

Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates

et al. 2021

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Cancer derived from thyroid follicular epithelial cells is common; it represents the most common endocrine malignancy. The molecular features of sporadic tumors have been clarified in the past decade. However the incidence of familial disease has not been emphasized and is often overlooked in routine practice. A careful clinical documentation of family history or familial syndromes that can be associated with thyroid disease can help identify germline susceptibility-driven thyroid neoplasia. In this review, we summarize a large body of information about both syndromic and non-syndromic familial thyroid carcinomas. A significant number of patients with inherited non-medullary thyroid carcinomas manifest disease that appears to be sporadic disease even in some syndromic cases. The cytomorphology of the tumor(s), molecular immunohistochemistry, the findings in the non-tumorous thyroid parenchyma and other associated lesions may provide insight into the underlying syndromic disorder. However, the increasing evidence of familial predisposition to non-syndromic thyroid cancers is raising questions about the importance of genetics and epigenetics. What appears to be “sporadic” is becoming less often truly so and more often an opportunity to identify and understand novel genetic variants that underlie tumorigenesis. Pathologists must be aware of the unusual morphologic features that should prompt germline screening. Therefore, recognition of harbingers of specific germline susceptibility syndromes can assist in providing information to facilitate early detection to prevent aggressive disease.

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Section: Pathological Featuresmentioning

confidence: 99%

Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates

et al. 2021

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“…DNA was isolated from peripheral blood, and polymerase chain reaction (PCR) followed by bidirectional DNA sequencing was used to test the PRKAR1A gene as previously described 14 .…”

Section: Methodsmentioning

confidence: 99%

Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma

Pálla,

Tőke,

Bozsik

et al. 2023

Sci Rep

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Carney complex (CNC) is an ultrarare disorder causing cutaneous and cardiac myxomas, primary pigmented nodular adrenocortical disease, hypophyseal adenoma, and gonadal tumours. Genetic alterations are often missed under routine genetic testing. Pathogenic variants in PRKAR1A are identified in most cases, while large exonic or chromosomal deletions have only been reported in a few cases. Our aim was to identify the causal genetic alteration in our kindred with a clinical diagnosis of CNC and prove its pathogenic role by functional investigation. Targeted testing of PRKAR1A gene, whole exome and whole genome sequencing (WGS) were performed in the proband, one clinically affected and one unaffected relative. WGS identified a novel, large, 10,662 bp (10.6 kbp; LRG_514t1:c.-10403_-7 + 265del; hg19, chr17:g.66498293_66508954del) deletion in the promoter of PRKAR1A in heterozygous form in the affected family members. The exact breakpoints and the increased enzyme activity in deletion carriers compared to wild type carrier were proved. Segregation analysis and functional evaluation of PKA activity confirmed the pathogenic role of this alteration. A novel deletion upstream of the PRKAR1A gene was proved to be the cause of CNC. Our study underlines the need for WGS in molecular genetic testing of patients with monogenic disorders where conventional genetic analysis fails.

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“…Approximately 20% of the families affected with Carney complex have 2p16 mutations. To date, there are at least 117 pathogenic variants in PRKAR1A that have been identified [4-7]. In this study, we identified a PRKAR1A mutation, c.491_492delTG, in both patients.…”

Section: Discussionmentioning

confidence: 80%

“…It is less commonly caused by a variety of genetic changes on chromosome 2p16. Currently, 117 different PRKAR1A mutations have been identified [4-7]. Herein, we identify two Chinese Carney complex patients that are siblings with a 491_492delTG PRKAR1A gene mutation.…”

Section: Introductionmentioning

confidence: 99%

Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG

Guo

Xiong

et al. 2015

World J Surg Onc

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Carney complex is an autosomal dominant disease that is clinically characterized by cardiac myxomas, spotty skin pigmentation, and endocrine overactivity. Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q22-24. Currently, there are at least 117 pathogenic mutations in PRKAR1A that have been identified. Herein, we report on two cases of Carney complex in related Chinese patients with a c.491_492delTG mutation that presented with multiple and extensive cardiac myxomas and skin pigmentation.

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Novel Genetic Mutation in the Background of Carney Complex

Cited by 9 publications

References 11 publications

Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates

Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates

Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma

Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG

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