Asare Belinda, Panigrahi Babita
Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins Medicine, 601 N. Caroline St, Baltimore, MD 21287, USA.
Radiol Case Rep. 2023 Mar 13;18(5):1918-1923. doi: 10.1016/j.radcr.2023.02.023. eCollection 2023 May.
Cowden syndrome is a rare autosomal dominant genetic disorder characterized by a germline mutation in the phosphatase and tensin homolog gene, leading to multiple hamartomas, neurodevelopmental disorders, and an increased lifetime risk of multiple cancers. Malignancy is the most common cause of mortality in Cowden syndrome, with breast cancer being the most common malignancy encountered in females with the disorder. Screening guidelines for this population should address this risk at an early age. We present a case of metachronous thyroid cancer followed by synchronous breast cancer and melanoma in a young female with Cowden syndrome, highlighting diagnostic imaging, management, and screening considerations.
考登综合征是一种罕见的常染色体显性遗传病,其特征是磷酸酶和张力蛋白同源基因发生种系突变,导致多发性错构瘤、神经发育障碍以及多种癌症的终生风险增加。恶性肿瘤是考登综合征最常见的死亡原因,乳腺癌是患有该疾病的女性中最常见的恶性肿瘤。针对这一人群的筛查指南应在早期就关注这种风险。我们报告一例患有考登综合征的年轻女性先后发生异时性甲状腺癌,随后又发生同步性乳腺癌和黑色素瘤的病例,强调了诊断性影像学检查、管理及筛查方面的注意事项。