BACKGROUND Atrial myxomas are generally considered benign neoplasms. The majority of tumors are sporadic and less than 10% are associated with an autosomal dominant condition known as the Carney complex, which is most often caused by germline mutation in the gene PRKAR1A. Whether this gene plays a role in the development of sporadic myxomas has been an area of debate, although recent studies have suggested that some fraction of sporadic tumors also carry mutations in PRKARIA. Extra-cardiac complications of atrial myxoma include dissemination of tumor to the brain; however, the dissemination of viable invasive tumor cells is exceedingly rare. CASE PRESENTATION We present here a 48-year-old white woman who developed multiple intracranial hemorrhagic lesions secondary to tumor embolism that progressed to 'false' aneurysm formation and invasion through the vascular wall into brain parenchyma 7 months after resection of an atrial myxoma. Whole exome sequencing of her tumor revealed multiple mutations in PRKAR1A not found in her germline deoxyribonucleic acid (DNA), suggesting that the myxoma in this patient was sporadic. CONCLUSIONS Our patient illustrates that mutations in PRKAR1A may be found in sporadic lesions. Whether the presence of this mutation affects the clinical behavior of sporadic tumors and increases risk for metastasis is not clear. Regardless, the protein kinase A pathway which is regulated by PRKAR1A represents a possible target for treatment in patients with metastatic cardiac myxomas harboring mutations in the PRKARIA gene.

中文翻译：

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散发性房性粘液瘤伴脑实质转移的体细胞PRKAR1A突变：病例报告。

背景技术心房粘液瘤通常被认为是良性肿瘤。大多数肿瘤是散发性的，少于10％的肿瘤与常染色体显性疾病卡尼复合体有关，这通常是由PRKAR1A基因的种系突变引起的。该基因是否在散发性粘液瘤的发生中起作用一直是一个争论的领域，尽管最近的研究表明，散发性肿瘤的某些部分也携带PRKARIA的突变。心房粘液瘤的心脏外并发症包括肿瘤向大脑的扩散；然而，活的侵袭性肿瘤细胞的传播极为罕见。病例介绍我们在这里介绍了一位48岁的白人妇女，该妇女因肿瘤栓塞继发发展为“假”的多发颅内出血性病变 房性粘液瘤切除后7个月，动脉瘤形成并通过血管壁侵入脑实质。她的肿瘤的整个外显子组测序显示在其种系脱氧核糖核酸（DNA）中未发现PRKAR1A的多个突变，表明该患者的粘液瘤是散发性的。结论我们的病人说明散发性病变中可能发现PRKAR1A突变。目前尚不清楚这种突变的存在是否会影响散发性肿瘤的临床行为并增加转移的风险。无论如何，由PRKAR1A调节的蛋白激酶A途径代表了在具有PRKARIA基因突变的转移性心脏粘液瘤患者中可能治疗的靶标。她的肿瘤的整个外显子组测序显示在其种系脱氧核糖核酸（DNA）中未发现PRKAR1A的多个突变，表明该患者的粘液瘤是散发性的。结论我们的病人说明散发性病变中可能发现PRKAR1A突变。目前尚不清楚这种突变的存在是否会影响散发性肿瘤的临床行为并增加转移的风险。无论如何，由PRKAR1A调节的蛋白激酶A途径代表了在具有PRKARIA基因突变的转移性心脏粘液瘤患者中治疗的可能靶标。她的肿瘤的整个外显子组测序显示在其种系脱氧核糖核酸（DNA）中未发现PRKAR1A的多个突变，表明该患者的粘液瘤是散发性的。结论我们的病人说明散发性病变中可能发现PRKAR1A突变。目前尚不清楚这种突变的存在是否会影响散发性肿瘤的临床行为并增加转移的风险。无论如何，由PRKAR1A调节的蛋白激酶A途径代表了在具有PRKARIA基因突变的转移性心脏粘液瘤患者中治疗的可能靶标。结论我们的病人说明散发性病变中可能发现PRKAR1A突变。目前尚不清楚这种突变的存在是否会影响散发性肿瘤的临床行为并增加转移的风险。无论如何，由PRKAR1A调节的蛋白激酶A途径代表了在具有PRKARIA基因突变的转移性心脏粘液瘤患者中治疗的可能靶标。结论我们的病人说明散发性病变中可能发现PRKAR1A突变。目前尚不清楚这种突变的存在是否会影响散发性肿瘤的临床行为并增加转移的风险。无论如何，由PRKAR1A调节的蛋白激酶A途径代表了在具有PRKARIA基因突变的转移性心脏粘液瘤患者中治疗的可能靶标。