Baagar Khaled Ahmed, Alowainati Buthina Ibrahim
Endocrine Department, Hamad Medical Corporation, Doha, P.O. Box 3050, Qatar.
Case Rep Endocrinol. 2021 Oct 15;2021:3472000. doi: 10.1155/2021/3472000. eCollection 2021.
Familial nonmedullary thyroid cancer (FNMTC) represents 5-10% of NMTC cases. Many controversies are associated with the FNMTC, namely, the minimum required number of affected family members to define the condition, aggressiveness, prognosis, and treatment and screening recommendations. Moreover, the genetic basis of the FNMTC has not yet been identified. We report a family diagnosed with FNMTC and present a comprehensive literature review of the condition. The index case was a 26-year-old male who was diagnosed with locally advanced papillary thyroid cancer (PTC). Then, his family members became worried and asked for a neck ultrasound. Four of his six siblings, in addition to his father, were diagnosed with PTC. In addition, two of his cousins were diagnosed. The patient underwent total thyroidectomy with bilateral neck dissection, and he received 2 doses of radioactive iodine (100 mCi each). Furthermore, one of his siblings required a second surgery with repeated radioactive iodine therapy. The index case genetic screening and whole-exome sequencing did not show any abnormalities. Future genetic and clinical research should focus on kindred with 3 or more affected individuals for better identification of the FNMTC susceptibility genes and to better guide management and screening recommendations.
家族性非髓样甲状腺癌（FNMTC）占非髓样甲状腺癌（NMTC）病例的5%-10%。FNMTC存在许多争议，即定义该病所需的受影响家庭成员的最少数量、侵袭性、预后以及治疗和筛查建议。此外，FNMTC的遗传基础尚未确定。我们报告了一个被诊断为FNMTC的家族，并对该病进行了全面的文献综述。索引病例是一名26岁男性，被诊断为局部晚期乳头状甲状腺癌（PTC）。随后，他的家人感到担忧并要求进行颈部超声检查。他的六个兄弟姐妹中有四个，连同他的父亲，被诊断为PTC。此外，他的两个堂兄弟也被诊断出患有该病。该患者接受了全甲状腺切除术及双侧颈部清扫术，并接受了2剂放射性碘治疗（每次100 mCi）。此外，他的一个兄弟姐妹需要再次手术并重复进行放射性碘治疗。索引病例的基因筛查和全外显子测序未显示任何异常。未来的基因和临床研究应聚焦于有3个或更多受影响个体的家族，以更好地识别FNMTC易感基因，并更好地指导管理和筛查建议。
