Guedes Helena, Leão Inês, Soares Adriana, Basto Raquel, Joaquim Ana
Oncology Department, Centro Hospitalar Vila Nova de Gaia/Espinho, Vila Nova de Gaia, PRT.
Cureus. 2023 Jun 7;15(6):e40107. doi: 10.7759/cureus.40107. eCollection 2023 Jun.
Medullary thyroid carcinoma (MTC) is a rare type of neuroendocrine tumor, accounting for 3%-4% of all thyroid cancers. Seventy-five percent are sporadic, of which 60% have pathogenic REarranged during Transfection (RET) somatic mutations. The sporadic RET-mutated MTC poses novel challenges for targeted treatment. The authors present a case of a 60-year-old male diagnosed in 2018 with MTC who underwent total thyroidectomy with sternotomy and bilateral cervical lymph node dissection - pT3N1b R1 L1 V1 Pn0 cM1 (hepatic and lung metastasis). According to the decisions made by the multidisciplinary tumor board, the patient received multiple palliative systemic treatments. Despite an initial response, vandetanib was accompanied by grade 3 high blood pressure and progression after 14 months of treatment. The patient also received cabozantinib, which led to an initial response, but with grade 3 hypertension and skin toxicity. The patient progressed, including symptomatic bone metastasis, after 15 months of treatment. Following the next sequencing genome result, which showed a somatic mutation in the RET M918T gene, the patient was treated with selpercatinib, a highly selective and potent RET inhibitor. The treatment led to clinical and radiological responses without significant toxicities. The objective of this case report is to highlight the impact of innovative treatment and precision medicine on the management of cancer patients, which not only has a direct effect on their survival but also on their quality of life.
甲状腺髓样癌（MTC）是一种罕见的神经内分泌肿瘤，占所有甲状腺癌的3%-4%。75%为散发性，其中60%具有转染重排（RET）体细胞致病性突变。散发性RET突变型MTC对靶向治疗提出了新的挑战。作者报告了一例2018年诊断为MTC的60岁男性患者，该患者接受了胸骨切开术甲状腺全切及双侧颈淋巴结清扫术——pT3N1b R1 L1 V1 Pn0 cM1（肝肺转移）。根据多学科肿瘤委员会的决定，该患者接受了多种姑息性全身治疗。尽管凡德他尼最初有反应，但治疗14个月后出现3级高血压并病情进展。该患者还接受了卡博替尼治疗，最初有反应，但出现了3级高血压和皮肤毒性。治疗15个月后患者病情进展，包括出现有症状的骨转移。根据下一次测序基因组结果显示RET M918T基因存在体细胞突变，该患者接受了塞尔帕替尼治疗，这是一种高度选择性和强效的RET抑制剂。治疗带来了临床和影像学反应，且无明显毒性。本病例报告的目的是强调创新治疗和精准医学对癌症患者管理的影响，这不仅对他们的生存有直接影响，而且对他们的生活质量也有影响。
