BACKGROUND Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder arising from mutations of the MEN1 tumor suppressor gene on chromosome 11q13; MEN1 is characterized by the development of neuroendocrine tumors, including those of the parathyroid, gastrointestinal endocrine tissue and anterior pituitary. Additionally, thymic neuroendocrine tumors in MEN1 are also rarely reported. CASE PRESENTATION This case report observed a family that presented with MEN1 p.L105Vfs mutation, and two of the family members had been diagnosed with thymic neuroendocrine tumor combined with MEN1. To the best of our knowledge, this is the first time such a mutation in the MEN1 gene has been reported. The proband presented with thymic neuroendocrine tumor, parathyroid adenoma and rectum adenocarcinoma. The son of the proband presented with thymic neuroendocrine tumor, gastrinoma, hypophysoma and parathyroid adenoma. Genetic testing revealed the frameshift mutation p.L105Vfs, leading to the identification of one carrier in the pedigree (the patient's younger sister). The proband then underwent parathyroidectomy at the age of 26 years (in 1980) for a parathyroid adenoma. Subsequently, the patient underwent thymectomy, radiotherapy and chemotherapy. The patient is now 64 years old, still alive and still undergoing Lanreotide therapy. CONCLUSION Thymic neuroendocrine MEN1 is rare, but it accounts for almost 20% of MEN1-associated mortality. Consequently, we should focus on regular clinical screening of the thymus in MEN1 patients.

中文翻译：

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胸腺神经内分泌肿瘤合并MEN1的家庭p.L105Vfs突变：1例。

背景1型多发性内分泌肿瘤（MEN1）是一种罕见的常染色体显性遗传疾病，由11q13号染色体上的MEN1抑癌基因突变引起。MEN1的特征是神经内分泌肿瘤的发展，包括甲状旁腺，胃肠道内分泌组织和垂体前叶。此外，MEN1中的胸腺神经内分泌肿瘤也很少报道。病例表述该病例报告观察到一个家庭出现了MEN1 p.L105Vfs突变，并且其中两个家庭成员被诊断出合并MEN1的胸腺神经内分泌肿瘤。据我们所知，这是首次报道MEN1基因突变。先证者出现胸腺神经内分泌肿瘤，甲状旁腺腺瘤和直肠腺癌。先证者的儿子患有胸腺神经内分泌肿瘤，胃泌素瘤，垂体瘤和甲状旁腺腺瘤。基因检测发现了移码突变p.L105Vfs，导致谱系中鉴定出一种携带者（患者的妹妹）。该先证者随后在26岁时（1980年）接受了甲状旁腺腺瘤的甲状旁腺切除术。随后，患者接受了胸腺切除术，放疗和化疗。该患者现年64岁，仍然活着并且仍在接受Lanreotide治疗。结论胸腺神经内分泌MEN1罕见，但几乎占MEN1相关死亡率的20％。因此，我们应该集中精力对MEN1患者的胸腺进行常规临床检查。基因测试揭示了移码突变p.L105Vfs，从而鉴定出家系中的一种携带者（患者的妹妹）。然后，先证者在26岁时（1980年）接受了甲状旁腺腺瘤的甲状旁腺切除术。随后，患者接受了胸腺切除术，放疗和化疗。该患者现年64岁，仍然活着并且仍在接受Lanreotide治疗。结论胸腺神经内分泌MEN1罕见，但几乎占MEN1相关死亡率的20％。因此，我们应该集中精力对MEN1患者的胸腺进行常规临床检查。基因测试揭示了移码突变p.L105Vfs，从而鉴定出家系中的一种携带者（患者的妹妹）。然后，先证者在26岁时（1980年）接受了甲状旁腺腺瘤的甲状旁腺切除术。随后，患者接受了胸腺切除术，放疗和化疗。该患者现年64岁，仍然活着并且仍在接受Lanreotide治疗。结论胸腺神经内分泌MEN1罕见，但几乎占MEN1相关死亡率的20％。因此，我们应该集中精力对MEN1患者的胸腺进行常规临床检查。患者接受胸腺切除术，放疗和化疗。该患者现年64岁，仍然活着并且仍在接受Lanreotide治疗。结论胸腺神经内分泌MEN1罕见，但几乎占MEN1相关死亡率的20％。因此，我们应该集中精力对MEN1患者的胸腺进行常规临床检查。患者接受胸腺切除术，放疗和化疗。该患者现年64岁，仍然活着并且仍在接受Lanreotide治疗。结论胸腺神经内分泌MEN1罕见，但几乎占MEN1相关死亡率的20％。因此，我们应该集中精力对MEN1患者的胸腺进行常规临床检查。