■结节性甲状腺癌(CMTC)被认为是甲状腺乳头状癌(PTC)的变体,但在2022年世界卫生组织分类中是一个单独的实体。CMTC与家族性腺瘤性息肉病(FAP)有关。我们的目标是报告一例随后被诊断为FAP的CMTC,强调这些相关实体和对管理的影响。
■一名15岁女性,有缺铁性贫血和α-gal综合征病史,伴有数年甲状腺肿和吞咽困难。她还注意到无意的减肥,腹痛,黑便和便血,和症状性贫血。体格检查对甲状腺多发结节具有重要意义。实验室结果显示甲状腺功能正常,缺铁。甲状腺超声显示多个结节,细针穿刺活检与PTC一致。进行甲状腺全切除术,并对多灶性CMTC进行了修订诊断,由于持续性疾病,给予辅助放射性碘。基因检测证实了FAP,她被转诊为上内窥镜检查,结肠镜检查,以及结肠切除术的评估.
■没有管理CMTC的最佳实践指南。CMTC的管理以FAP状态为指导;散发性病例可以通过半甲状腺切除术来管理,而FAP相关病例通过全甲状腺切除术得到更好的治疗。复发通常通过手术切除来管理。使用辅助放射性碘治疗的决定通常是从经典PTC的管理中推断出来的。
■在有广泛家族结直肠癌病史的背景下,甲状腺癌应该引起对CMTC的怀疑。患有CMTC的患者应接受结肠镜检查和FAP基因检测的转诊。
UNASSIGNED: Cribriform-morular thyroid carcinoma (CMTC) was considered a variant of papillary thyroid carcinoma (PTC) but is a separate entity in the 2022 World Health Organization classification. CMTC has an association with familial adenomatous polyposis (FAP). Our objective is to report a case of CMTC who was subsequently diagnosed with FAP, to highlight these associated entities and implications for management.
UNASSIGNED: A 15-year-old female with a history of iron-deficiency anemia and alpha-gal syndrome presented with several years of goiter and dysphagia. She also noted unintentional weight loss, abdominal pain, melena and hematochezia, and symptomatic anemia. Physical examination was significant for multiple thyroid nodules. Laboratory results revealed normal thyroid function and iron deficiency. Multiple nodules were visualized on thyroid ultrasound, and fine needle aspiration biopsy was consistent with PTC. Total thyroidectomy was performed with a revised diagnosis of multifocal CMTC, with administration of adjuvant radioactive iodine due to persistent disease. Genetic testing confirmed FAP and she was referred for upper endoscopy, colonoscopy, and an evaluation for colectomy.
UNASSIGNED: There are no best practice guidelines for management of CMTC. Management of CMTC is guided by FAP status; sporadic cases can be managed with hemithyroidectomy, while FAP-associated cases are better managed with total thyroidectomy. Recurrence is usually managed with surgical resection. The decision to treat with adjuvant radioactive iodine is often extrapolated from management of classic PTC.
UNASSIGNED: Thyroid carcinoma in the setting of extensive family history of colorectal carcinoma should arouse suspicion for CMTC. Patients with CMTC should receive a referral for colonoscopy and genetic testing for FAP.