Shengli Clinical Medical College of Fujian Medical University, Fuzhou, China.
Department of Hepatobiliary Surgery, Fujian Provincial Hospital, Fujian Medical University, Fuzhou, China.
World J Surg Oncol. 2022 May 10;20(1):151. doi: 10.1186/s12957-022-02622-1.
Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant tumor syndrome with a high degree of heterogeneity in clinical phenotypes, generally involving the parathyroid, anterior pituitary, and enteropancreas. In recent years, several new insights into the clinical features of MEN1 have been reported in the literature. However, it is not clear whether MEN1-associated primary tumors can occur in the liver.
We report the case of a 52-year-old man with multiple endocrine neoplasia type 1 diagnosed by genetic sequencing. After uniportal thoracoscopic right middle lobectomy, laparoscopic radical resection of the liver tumors, and radiofrequency ablation of the parathyroid space, the parathyroid hormone level decreased from 177 pg/ml to a normal level (20 pg/ml). No local tumor recurrence was observed during a follow-up of 5 months.
We report the first case of MEN1 with simultaneous liver and lung involvement in which the patient underwent radical resection of the tumors, and we propose the possibility that the liver and other nonendocrine organs may also develop diseases associated with MEN1; although, this view needs further verification. Gene detection has crucial clinical significance for guiding diagnosis and treatment.
多发性内分泌腺瘤病 1 型(MEN1)是一种罕见的常染色体显性遗传肿瘤综合征,其临床表型具有高度异质性,通常涉及甲状旁腺、垂体前叶和胰肠。近年来,文献中报道了 MEN1 的一些新的临床特征的见解。然而,目前尚不清楚 MEN1 相关的原发性肿瘤是否可能发生在肝脏。
我们报告了一例 52 岁男性患者,通过基因测序诊断为多发性内分泌腺瘤病 1 型。行单孔胸腔镜右中叶切除术、腹腔镜肝肿瘤根治性切除术和甲状旁腺间隙射频消融术后,甲状旁腺激素水平从 177 pg/ml 降至正常水平(20 pg/ml)。5 个月的随访期间未观察到局部肿瘤复发。
我们报告了首例同时累及肝和肺的 MEN1 病例,患者行肿瘤根治性切除术,我们提出了肝脏和其他非内分泌器官也可能发生与 MEN1 相关疾病的可能性;尽管这一观点需要进一步验证。基因检测对指导诊断和治疗具有重要的临床意义。