V Gowtham K, Kajamohideen Suhaildeen, M Arthi, Joseph Leena D, Parthasarathy Ilango
Surgical Oncology, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Pathology, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Cureus. 2025 Jun 17;17(6):e86190. doi: 10.7759/cureus.86190. eCollection 2025 Jun.
Synchronous papillary and medullary thyroid carcinomas are exceptionally rare. This case report describes a 13-year-old girl with familial medullary thyroid cancer linked to germline rearranged during transfection (RET) proto-oncogene mutation, with a high risk of early onset and aggressive disease, who underwent total thyroidectomy with prophylactic neck dissection. Histopathology revealed distinct papillary and medullary thyroid cancers in separate thyroid lobes, which was a type IV synchronous tumor, with one lymph node showing metastatic deposits from both tumors. This case highlights the rare occurrence, diagnostic challenges of such dual malignancies, emphasizing the need for genetic testing and vigilant long-term follow-up.
同步性甲状腺乳头状癌和髓样癌极为罕见。本病例报告描述了一名13岁女孩,患有与种系转染重排(RET)原癌基因突变相关的家族性甲状腺髓样癌,具有早发和侵袭性疾病的高风险,她接受了甲状腺全切除术及预防性颈部淋巴结清扫术。组织病理学显示,在不同的甲状腺叶中存在明显的甲状腺乳头状癌和髓样癌,这是一种IV型同步性肿瘤,有一个淋巴结显示出来自两种肿瘤的转移灶。本病例突出了这种双重恶性肿瘤的罕见性、诊断挑战,强调了基因检测和长期密切随访的必要性。