Miani Cesare, Locatello Luca Giovanni, Rugiu Maria Gabriella, Antonio Jamile Karina, Di Loreto Carla, Pegolo Enrico
Department of Otorhinolaryngology, Academic Hospital "Santa Maria della Misericordia", Azienda Sanitaria Universitaria Friuli Centrale, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy; University of Udine, Department of Medicine (DAME), Via Colugna 50, 33100 Udine, Italy.
Department of Otorhinolaryngology, Academic Hospital "Santa Maria della Misericordia", Azienda Sanitaria Universitaria Friuli Centrale, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy.
Pathol Res Pract. 2023 Apr;244:154388. doi: 10.1016/j.prp.2023.154388. Epub 2023 Feb 24.
Val804Met RET is one of the most common genetic alterations in Multiple Endocrine Neoplasia 2 and is considered to confer only a moderate risk for familial medullary thyroid carcinoma (MTC). The associated phenotype can however be much more complex in some cases.
A clinical, genetic, and pathological analysis was conducted on a family cluster of thyroid neoplasms associated with Val804Met RET mutation.
All the kindreds who are carriers of the mutated RET received total thyroidectomy + /- VI level dissection. The proband presented with a pT1bN0 MTC, her 29-yo brother showed a concomitant papillary thyroid carcinoma (PTC) and MTC, their father had a pT1a PTC plus a follicular adenoma, while the uncle of the proband showed C-cell hyperplasia. None had clinical or biochemical evidence of parathyroid disorders or pheochromocytoma.
In the presence of Val804Met RET several types of thyroid premalignant and malignant should be screened for, and without limiting to MTC.
Val804Met RET是多发性内分泌腺瘤2型中最常见的基因改变之一，被认为仅赋予家族性甲状腺髓样癌（MTC）中度风险。然而，在某些情况下，相关表型可能更为复杂。
对一组与Val804Met RET突变相关的甲状腺肿瘤家族进行了临床、基因和病理分析。
所有携带RET突变的亲属均接受了甲状腺全切术+/-Ⅵ区清扫术。先证者患有pT1bN0 MTC，她29岁的哥哥同时患有甲状腺乳头状癌（PTC）和MTC，他们的父亲患有pT1a PTC加滤泡性腺瘤，而先证者的叔叔表现为C细胞增生。没有人有甲状旁腺疾病或嗜铬细胞瘤的临床或生化证据。
在存在Val804Met RET的情况下，应筛查多种类型的甲状腺癌前病变和恶性病变，而不仅限于MTC。
