Chen Lan, Zhang Jing-Xin, Liu Dong-Ge, Liu Hong-Gang
Pathology Department, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China.
Pathology Department, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Head and Neck Molecular Diagnostic Pathology, Beijing 100730, China.
Diagnostics (Basel). 2023 Mar 2;13(5):955. doi: 10.3390/diagnostics13050955.
This paper illustrates a rare syndrome of multiple endocrine neoplasia type 2A (MEN2A) in a family of three generations. In our case, the father, son and one daughter developed phaeochromocytoma (PHEO) and medullary thyroid carcinoma (MTC) over a period of 35 years. Because of the metachronous onset of the disease and lack of digital medical records in the past, the syndrome was not found until a recent fine needle aspiration of an MTC-metastasized lymph node from the son. All resected tumors from the family members were then reviewed and supplemented with immunohistochemical studies, previously wrong diagnoses were then corrected. Further molecular study of targeted sequencing also revealed a RET germline mutation (C634G) in the family tree including the three members with onset of the disease and one granddaughter who had no disease at the time of testing. Despite the syndrome being well-known, it may still be misdiagnosed because of its rarity and long disease onset. A few lessons can be learned from this unique case. Successful diagnosis requires high suspicion and surveillance and a tri-level methodology including a careful review of family history, pathology and genetic counselling.
本文阐述了一个三代家族中的罕见的2A型多发性内分泌腺瘤病（MEN2A）综合征病例。在我们的病例中，父亲、儿子和一个女儿在35年的时间里先后患上了嗜铬细胞瘤（PHEO）和甲状腺髓样癌（MTC）。由于疾病的异时性发病以及过去缺乏数字化医疗记录，该综合征直到最近对儿子的一个MTC转移淋巴结进行细针穿刺活检才被发现。随后对家族成员所有切除的肿瘤进行了复查，并补充了免疫组化研究，纠正了之前的错误诊断。针对测序的进一步分子研究还揭示了该家族谱系中存在RET基因种系突变（C634G），包括三名发病成员和一名检测时未患病的孙女。尽管该综合征广为人知，但由于其罕见性和发病时间长，仍可能被误诊。从这个独特的病例中可以吸取一些经验教训。成功的诊断需要高度的怀疑和监测，以及包括仔细回顾家族病史、病理学和遗传咨询在内的三级方法。
