Rizwan Azra, Saad Malik, Fatima Saira, Ameen Abdullah, Akhter Shabbir
Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan.
Aga Khan University Hospital, Karachi, Pakistan.
AACE Clin Case Rep. 2024 Sep 2;10(6):249-252. doi: 10.1016/j.aace.2024.08.008. eCollection 2024 Nov-Dec.
BACKGROUND/OBJECTIVE: Medullary thyroid carcinoma (MTC) is an uncommon thyroid cancer (TC), rarely found in hyperfunctioning goiter.
We present a case of a woman treated for breast carcinoma (BCA) found to have a benign hyperfunctioning nodular goiter, its likely transformation to MTC, and its treatment. Family history revealed papillary thyroid cancer in her nephew.
Most TCs in hyperfunctioning nodules are differentiated carcinomas. Familial MTC or MTC in association with multiple endocrine neoplasia 2 is the expected genetic association in this case.
The association of BCA and MTC may have been coincidental, given the high prevalence of BCA in females. It could have been the result of a common genetic precursor of both tumors and/or treatment modality such as external beam radiation therapy used to treat BCA. This case highlights the importance of considering MTC as a potential diagnosis even in cases of hyperfunctioning nodular goiter. We call for consideration of calcitonin level measurement in the workup of thyroid nodules in select cases. Close follow-up of thyroid nodules, particularly in patients with another primary malignancy, is important because of possible common genotype triggers.
背景/目的:甲状腺髓样癌(MTC)是一种罕见的甲状腺癌(TC),在功能亢进性甲状腺肿中很少见。
我们报告一例接受乳腺癌(BCA)治疗的女性病例,该患者被发现患有良性功能亢进性结节性甲状腺肿、其可能向MTC的转变及其治疗情况。家族史显示她的侄子患有乳头状甲状腺癌。
功能亢进性结节中的大多数TC为分化型癌。家族性MTC或与多发性内分泌腺瘤病2相关的MTC是该病例预期的遗传关联。
鉴于女性中BCA的高患病率,BCA与MTC的关联可能是巧合。这可能是两种肿瘤共同的遗传前体和/或治疗方式(如用于治疗BCA的外照射放疗)的结果。该病例强调了即使在功能亢进性结节性甲状腺肿病例中也应考虑将MTC作为潜在诊断的重要性。我们呼吁在某些病例的甲状腺结节检查中考虑测定降钙素水平。由于可能存在共同的基因型触发因素,对甲状腺结节进行密切随访很重要,尤其是对患有另一种原发性恶性肿瘤的患者。