A case report and literature review of Carney complex with atrial adenomyxoma
Abstract Background Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome characterized by mucocutaneous lentigines/ blue nevi, cardiac myxoma and endocrine overactivity. Here, we report a CNC case with PRKAR1A gene mutation characterized by left atrial adenomyxoma to explore the diag...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-02-01
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| Series: | BMC Endocrine Disorders |
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| Online Access: | https://doi.org/10.1186/s12902-023-01285-7 |
| _version_ | 1811165869435256832 |
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| author | Jing Xu Meng Ye Po Li Shujing Xu Miao Zhang Lixin Shi Juan He |
| author_facet | Jing Xu Meng Ye Po Li Shujing Xu Miao Zhang Lixin Shi Juan He |
| author_sort | Jing Xu |
| collection | DOAJ |
| description | Abstract Background Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome characterized by mucocutaneous lentigines/ blue nevi, cardiac myxoma and endocrine overactivity. Here, we report a CNC case with PRKAR1A gene mutation characterized by left atrial adenomyxoma to explore the diagnosis and treatment of CNC. Case presentation A 42-year-old woman with a history of cardiac tumour surgery presented with typical features of Cushing syndrome, including central obesity, buffalo hump, mild facial plethora, purple striae on the lower abdomen, and spotty skin pigmentation. Left atrial adenomyxoma and thyroid papillary carcinoma were identified by postoperative histologic assays. Genetic screening revealed a pathogenic germline heterozygous mutation of c.682C > T (p.R228X) in exon 7 of the PRKAR1A gene. The clinical features and normal ACTH levels suggest this patient suffered the ACTH-independent primary pigmented nodular adrenocortical disease (PPNAD) with cyclic hypercortisolism or ACTH-dependent Cushing syndrome. Conclusion CNC is uncommon, however, if a patient develops clinical features involving multiple endocrine and non-endocrine tumors, especially Cushing syndrome and cardiac myxoma, CNC should be considered. Genetic analysis is recommended in patients with suspected CNC. |
| first_indexed | 2024-04-10T15:44:27Z |
| format | Article |
| id | doaj.art-a90c1a4c9a0c465e85eb715a2838d21f |
| institution | Directory Open Access Journal |
| issn | 1472-6823 |
| language | English |
| last_indexed | 2024-04-10T15:44:27Z |
| publishDate | 2023-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Endocrine Disorders |
| spelling | doaj.art-a90c1a4c9a0c465e85eb715a2838d21f2023-02-12T12:14:30ZengBMCBMC Endocrine Disorders1472-68232023-02-012311810.1186/s12902-023-01285-7A case report and literature review of Carney complex with atrial adenomyxomaJing Xu0Meng Ye1Po Li2Shujing Xu3Miao Zhang4Lixin Shi5Juan He6Department of Endocrinology and Metabolism, the Affiliated Hospital of Guizhou Medical UniversityDepartment of Endocrinology and Metabolism, the Affiliated Hospital of Guizhou Medical UniversityDepartment of Pathology, the Affiliated Hospital of Guizhou Medical UniversityDepartment of Endocrinology and Metabolism, the Affiliated Hospital of Guizhou Medical UniversityDepartment of Endocrinology and Metabolism, the Affiliated Hospital of Guizhou Medical UniversityDepartment of Endocrinology and Metabolism, Guiqian International General HospitalDepartment of Endocrinology and Metabolism, the Affiliated Hospital of Guizhou Medical UniversityAbstract Background Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome characterized by mucocutaneous lentigines/ blue nevi, cardiac myxoma and endocrine overactivity. Here, we report a CNC case with PRKAR1A gene mutation characterized by left atrial adenomyxoma to explore the diagnosis and treatment of CNC. Case presentation A 42-year-old woman with a history of cardiac tumour surgery presented with typical features of Cushing syndrome, including central obesity, buffalo hump, mild facial plethora, purple striae on the lower abdomen, and spotty skin pigmentation. Left atrial adenomyxoma and thyroid papillary carcinoma were identified by postoperative histologic assays. Genetic screening revealed a pathogenic germline heterozygous mutation of c.682C > T (p.R228X) in exon 7 of the PRKAR1A gene. The clinical features and normal ACTH levels suggest this patient suffered the ACTH-independent primary pigmented nodular adrenocortical disease (PPNAD) with cyclic hypercortisolism or ACTH-dependent Cushing syndrome. Conclusion CNC is uncommon, however, if a patient develops clinical features involving multiple endocrine and non-endocrine tumors, especially Cushing syndrome and cardiac myxoma, CNC should be considered. Genetic analysis is recommended in patients with suspected CNC.https://doi.org/10.1186/s12902-023-01285-7Carney complexAdenomyxomaCushing syndromePRKAR1A geneCase report |
| spellingShingle | Jing Xu Meng Ye Po Li Shujing Xu Miao Zhang Lixin Shi Juan He A case report and literature review of Carney complex with atrial adenomyxoma BMC Endocrine Disorders Carney complex Adenomyxoma Cushing syndrome PRKAR1A gene Case report |
| title | A case report and literature review of Carney complex with atrial adenomyxoma |
| title_full | A case report and literature review of Carney complex with atrial adenomyxoma |
| title_fullStr | A case report and literature review of Carney complex with atrial adenomyxoma |
| title_full_unstemmed | A case report and literature review of Carney complex with atrial adenomyxoma |
| title_short | A case report and literature review of Carney complex with atrial adenomyxoma |
| title_sort | case report and literature review of carney complex with atrial adenomyxoma |
| topic | Carney complex Adenomyxoma Cushing syndrome PRKAR1A gene Case report |
| url | https://doi.org/10.1186/s12902-023-01285-7 |
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