Mula-Abed Waad-Allah S, Ahmed Riyaz, Ramadhan Fatima A, Al-Kindi Manal K, Al-Busaidi Noor B, Al-Muslahi Hilal N, Al-Lamki Mohammad A
Department of Chemical Pathology, Royal Hospital, Muscat, Oman.
Department of Endocrine Surgery, Royal Hospital, Muscat, Oman.
Oman Med J. 2015 Sep;30(5):382-90. doi: 10.5001/omj.2015.76.
A 50-year-old Omani woman presented to the Outpatient Clinic, Royal Hospital, Oman with right upper abdominal pain and backache that had lasted 10 days. She had no palpitation, sweating, or hypertension (blood pressure 122/78mmHg). The patient's history revealed that she had a similar incidence of abdominal pain two months prior, which was a "dull ache" in nature and somewhat associated with headache. The pain was relieved using a mild analgesic drug. Abdominal ultrasonography showed a right adrenal mass, and both computed tomography and magnetic resonance imaging of the adrenal glands confirmed a right adrenal mass consistent with adrenal pheochromocytoma. However, clinical biochemistry tests revealed normal levels of plasma catecholamines (dopamine, norepinephrine, and epinephrine) and metanephrine, which are unusual findings in adrenal pheochromocytoma. Meanwhile, the patient had markedly raised plasma normetanephrine (10-fold) which, together with the normal metanephrine, constitutes a metabolic profile that is compatible with extra-adrenal pheochromocytoma. The patient also had markedly raised chromogranin A (16-fold), consistent with the presence of a neuroendocrine tumor. Laparoscopic right adrenalectomy was done and the adrenal tumor was excised and retrieved in total. Histopathology and immunohistochemistry confirmed the diagnosis of adrenal pheochromocytoma; the tumor cells being positive for chromogranin, synaptophysin, and S-100 protein. Following surgery, the patient did well and showed full recovery at follow-up after three months. Molecular genetic testing showed no pathogenic mutation in pheochromocytoma genes: MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, VHL, and PRKAR1A. A review of the literature was conducted to identify the pathophysiology and any previous reports of such case. To our knowledge, this is the first report in Oman of the extremely rare entity of pheochromocytoma with an unusual clinical and biochemical scenario.
一名50岁的阿曼女性前往阿曼皇家医院门诊，主诉右上腹疼痛和背痛，症状持续了10天。她没有心悸、出汗或高血压（血压122/78mmHg）。患者病史显示，两个月前她曾有过类似的腹痛发作，性质为“隐痛”，且与头痛有一定关联。使用轻度镇痛药后疼痛缓解。腹部超声显示右侧肾上腺有肿块，肾上腺计算机断层扫描和磁共振成像均证实右侧肾上腺有一肿块，符合肾上腺嗜铬细胞瘤表现。然而，临床生化检查显示血浆儿茶酚胺（多巴胺、去甲肾上腺素和肾上腺素）及间甲肾上腺素水平正常，这在肾上腺嗜铬细胞瘤中是不常见的发现。同时，患者血浆去甲间甲肾上腺素显著升高（升高10倍），结合间甲肾上腺素正常，构成了与肾上腺外嗜铬细胞瘤相符的代谢特征。患者嗜铬粒蛋白A也显著升高（升高16倍），符合神经内分泌肿瘤的表现。遂行腹腔镜下右侧肾上腺切除术，完整切除并取出肾上腺肿瘤。组织病理学和免疫组织化学检查确诊为肾上腺嗜铬细胞瘤；肿瘤细胞嗜铬粒蛋白、突触素和S - 100蛋白呈阳性。术后患者恢复良好，三个月随访时显示完全康复。分子基因检测显示嗜铬细胞瘤相关基因MAX、SDHA、SDHAF2、SDHB、SDHC、SDHD、VHL和PRKAR1A未发现致病突变。我们查阅了文献以确定其病理生理学及此前是否有此类病例报告。据我们所知，这是阿曼首例关于肾上腺嗜铬细胞瘤这种极其罕见实体且伴有不寻常临床和生化情况的报告。
