PDF(Pubmed)
Abstract：
Cribriform-morular thyroid carcinoma is a rare type of thyroid cancer. It has a strong association with familial adenomatous polyposis (FAP), a hereditary genetic disorder that predisposes individuals to the development of numerous polyps in the colon and rectum. We describe the case of a young female patient who presented with an enlarging goiter, notably without detectable thyroid nodules or masses on ultrasound, who after total thyroidectomy was found to have cribriform-morular thyroid carcinoma. This diagnosis led to genetic testing and diagnosis of FAP syndrome. We demonstrate that this rare thyroid carcinoma may present with nonsuspicious findings on sonographic evaluation while being a valuable harbinger in the diagnosis of FAP syndrome.
摘要：
结节性甲状腺癌是一种罕见的甲状腺癌。它与家族性腺瘤性息肉病（FAP）有很强的相关性，一种遗传性遗传疾病，使个体容易在结肠和直肠中发展许多息肉。我们描述了一个年轻的女性患者，她出现了甲状腺肿扩大的情况，特别是在超声检查中没有检测到甲状腺结节或肿块，甲状腺全切除术后被发现患有筛状-乳头状甲状腺癌。这种诊断导致了基因检测和FAP综合征的诊断。我们证明，这种罕见的甲状腺癌可能在超声检查中表现出不可疑的发现，同时在FAP综合征的诊断中是有价值的先兆。
