Division of Metabolism and Endocrinology, Department of Internal Medicine, St. Marianna University Yokohama Seibu Hospital, Yokohama, Japan.
Division of Metabolism and Endocrinology, Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan.
Front Endocrinol (Lausanne). 2023 Jan 10;13:1054468. doi: 10.3389/fendo.2022.1054468. eCollection 2022.
Pheochromocytomas and paragangliomas (PGLs) are rare non-epithelial neuroendocrine neoplasms of the adrenal medulla and extra-adrenal paraganglia respectively. Duodenal PGL is quite rare and there are only two previous reports. Herein, we report a case of multiple catecholamines (CAs)-producing PGLs in the middle ear, retroperitoneum, and duodenum, and review the literature of duodenal PGLs. A 40-year-old man complained right-ear hearing loss, and an intracranial tumor was suspected. Magnetic resonance imaging of the head revealed a 3-cm mass at the right transvenous foramen, which was surgically resected following preoperative embolization. The pathological diagnosis was a sympathetic PGL of the right middle ear. Six years later, family history of PGL with germline mutation of succinate dehydrogenase complex iron sulfur subunit B, SDHB: c.268C>T (p.Arg90Ter) was clarified. The patient had elevated levels of plasma and urine CAs again. Abdominal computed tomography scanning revealed two retroperitoneal tumors measuring 30-mm at the anterior left renal vein and 13-mm at near the ligament of Treitz. The larger tumor was laparoscopically resected, but the smaller tumor was not identified by laparoscopy. After the operation, the patient remained hypertensive, and additional imaging tests suggested a tumor localized in the duodenum. The surgically resected tumor was confirmed to be a duodenal PGL. After that, the patient remained hypertension free, and urinary levels of noradrenaline and normetanephrine decreased to normal values. No recurrence or metastasis has been found at 1 year after the second operation. CAs secretion from PGLs in unexpected location, like the duodenum of our patient, may be overlooked and leads to a hypertensive crisis. In such cases, comprehensive evaluation including genetic testing, fluorodeoxyglucose-positron emission tomography scanning, and measurement of CAs will be useful for detecting PGLs. Most previous reports on duodenal PGL were gangliocytic PGL which has been renamed composite gangliocytoma/neuroma and neuroendocrine tumor, and defined the different tumor from duodenal PGL. We reviewed and discussed duodenal PGLs in addition to multiple PGLs associated with SDHB mutation.
嗜铬细胞瘤和副神经节瘤(PGLs)分别是肾上腺髓质和肾上腺外副神经节的罕见非上皮神经内分泌肿瘤。十二指肠 PGL 非常罕见,仅有两例既往报道。本文报道了 1 例中耳、腹膜后和十二指肠中多种儿茶酚胺(CA)产生的 PGL,并复习了十二指肠 PGL 的文献。1 例 40 岁男性因右耳听力下降就诊,疑颅内肿瘤。头部磁共振成像显示右侧乙状窦后孔 3cm 肿块,术前栓塞后行手术切除。病理诊断为右侧中耳交感 PGL。6 年后,患者明确存在 PGL 家族史,存在琥珀酸脱氢酶复合物铁硫亚基 B 种系突变,SDHB:c.268C>T(p.Arg90Ter)。患者再次出现血浆和尿液 CA 水平升高。腹部计算机断层扫描显示左肾前静脉前 30mm 和靠近Treitz 韧带处 13mm 处有两个腹膜后肿瘤。较大的肿瘤通过腹腔镜切除,但腹腔镜未识别较小的肿瘤。术后,患者仍有高血压,进一步影像学检查提示十二指肠局部肿瘤。手术切除的肿瘤被证实为十二指肠 PGL。术后,患者血压正常,去甲肾上腺素和变肾上腺素尿水平降至正常。第二次手术后 1 年,未发现复发或转移。像我们患者的十二指肠一样,来自于意外位置的 PGL (如本例患者的十二指肠)可能会分泌 CA 而被忽视,并导致高血压危象。在这种情况下,包括基因检测、氟脱氧葡萄糖正电子发射断层扫描和 CA 测量在内的全面评估将有助于发现 PGL。大多数以前关于十二指肠 PGL 的报道都是神经节细胞性 PGL,现已更名为复合神经节细胞瘤/神经瘤和神经内分泌肿瘤,并将其与十二指肠 PGL 区分开来。我们除了复习和讨论与 SDHB 突变相关的多发性 PGL 外,还对十二指肠 PGL 进行了复习和讨论。