Department of Pathobiology, Ontario Veterinary College, University of Guelph, Guelph, Ontario, Canada.
Vet Pathol. 2010 Mar;47(2):354-7. doi: 10.1177/0300985809358427. Epub 2010 Jan 28.
A 9-year-old female Golden Retriever was presented with an acute onset of progressive respiratory distress. Echocardiography revealed a left atrial mass that limited blood flow from the pulmonary veins. The pathological evaluation revealed a left atrial ossifying myxosarcoma, bilateral adrenocortical adenomas, multifocal pituitary hyperplasia with expression of adrenocorticotrophic hormone, and multiple pituitary Rathke's cleft cysts. These pathologic findings are similar to those described in Carney complex, a familial human syndrome characterized by cardiac myxoma and extracardiac tumors associated with mutations in the protein kinase A regulator gene PRKAR1A. Mutations were not detected in PRKAR1A exons in the present case.
一只 9 岁雌性金毛猎犬突发进行性呼吸窘迫。超声心动图显示左心房有一肿块,限制了肺静脉的血流。病理评估显示左心房骨化粘液肉瘤、双侧肾上腺腺瘤、促肾上腺皮质激素表达的多发性垂体增生和多个垂体 Rathke 氏裂囊肿。这些病理发现与 Carney 综合征相似,Carney 综合征是一种家族性人类综合征,其特征是心脏粘液瘤和心脏外肿瘤,并与蛋白激酶 A 调节基因 PRKAR1A 的突变有关。在本病例中未检测到 PRKAR1A 外显子的突变。