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- Novel Mutation in
PRKAR1A in Carney Complex - Ko Un Park, Hyun-Sook Kim, Seung Kwan Lee, Woon-Won Jung, Yong-Koo Park
- Korean J Pathol. 2012;46(6):595-600. Published online December 26, 2012
- DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.6.595
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Abstract
PDF A case of Carney complex in a Korean patient is presented. The patient had the characteristics of Carney complex including skin lesions, positive family history, and multiple myxomas including a superficial angiomyxoma in the perianal area. An extensive genetic analysis revealed a novel mutation in the protein kinase A type I-a regulatory subunit (
PRKAR1A ) gene, but not in the phosphodiesterase type 11A (PDE11A ) gene. This is the first case wherein extensive genetic studies were performed in a patient with Carney complex in Korea.-
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- Structures of the PKA RIα Holoenzyme with the FLHCC Driver J-PKAcα or Wild-Type PKAcα
Baohua Cao, Tsan-Wen Lu, Juliana A. Martinez Fiesco, Michael Tomasini, Lixin Fan, Sanford M. Simon, Susan S. Taylor, Ping Zhang
Structure.2019; 27(5): 816. CrossRef - Carney Complex with Multiple Cardiac Myxomas, Pigmented Nodular Adrenocortical Hyperplasia, Epithelioid Blue Nevus, and Multiple Calcified Lesions of the Testis: A Case Report
Hyunchul Kim, Hyun-Yee Cho, Jeong Nam Lee, Kook-Yang Park
Journal of Pathology and Translational Medicine.2016; 50(4): 312. CrossRef
- Structures of the PKA RIα Holoenzyme with the FLHCC Driver J-PKAcα or Wild-Type PKAcα
- Superficial Angiomyxoma: A case report.
- Ji Hwa Kim, Joo Ryung Huh, Je Geun Chi
- Korean J Pathol. 1994;28(5):544-546.
- 1,409 View
- 21 Download
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Abstract
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- Superficial angiomyxoma is a comparatively rare dermal and subcutaneous tumor. We report a case of superficial angiomyxoma of the thumb in view of its rarity and typical light and electronmicroscopic features. The patient was a 46-year-old male. who presented with an asymptomatic, slowly enlarging mass that developed in the left thumb over the 5 years. He had a history of trauma and electric burn in the same area 20~30 years ago. Simple X-ray and magnetic resonance imaging revealed 35x30mm, mass with destruction of distal phalangeal bone. On operation, the lesion was moderately well circumscribed and soft with lobulated nodules that elevated the overlying skin and destroyed the underlying bone. The cut surface of the mass was glistening and slimy. The mass was whitish gray and lobulated. Bony involvement was not present. Microscopically, the tumor was composed of stellated and spindle shaped stromal cells which were scattered throughout myxoid ground substance. Neither nuclear hyperchromasia nor plemorphisam was present. Small to medium sized thin walled blood vessels were scattered. There was a scanty infiltrate of inflammatory cells. The S-100 protein immunostaining was negative in tumor cells. On electron microscopy, the cytoplasm of the stromal cells contained well developed rough ednoplasmic reticulums and other features that indicated differentiation toward fibroblasts.
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