Novel Mutation in PRKAR1A in Carney Complex

Abstract

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.

Keywords: Carney complex; PDE11A; PRKAR1A; Superficial angiomyxoma.

Fig. 1

Pigmented skin manifestations. Generalized scattered brownish macules on the face and abdomen (A, B). A solitary bean-sized pedunculated papule with a blue-grayish hue in the left axilla (C). Grouped brownish papules with a lobulated contour on both nipples (D, E). A solitary coin-sized, dark-brownish patch on the left upper arm (F).

Fig. 2

Echocardiogram (the parasternal long axis view) demonstrated a 3×2.5×2 cm left atrial myxoma.

Fig. 3

(A-C) Magnetic resonance imaging demonstrated a 6.7×5.8×4.0 cm multilocular cystic mass with multiple septa in the perianal area. The mass shows a bright high signal intensity on both T2-weighted imaging (T2WI) and fat suppression T2WI.

Fig. 4

Grossly, the mass is well circumscribed and has a gray to white, gelatinous cut surface with multiple thin fibrous septa (A). Histologically, the tumor shows a multilobular appearance with an infiltrative border (B). The fibrous septa traverse the tumor into multiple lobules (C). Spindled to stellate-shaped tumor cells are loosely deposited in a myxoid stroma. Prominent vasculature is identified in this area (D).

Fig. 5

Genetic analysis finds a novel deletion mutation (c.537delA) in the PRKAR1A gene in exon 6. This results in a frameshift mutation, and introduced a premature stop codon downstream in exon 7.