Zafar Maha, Rajan Reshly M, Krishnakumar Manaswini, Reddy Aswanth
Department of Internal Medicine, Mercy Hospital, Fort Smith, AR, United States.
Arkansas College of Osteopathic Medicine, AR, United States.
J Community Hosp Intern Med Perspect. 2025 Jul 3;15(4):92-95. doi: 10.55729/2000-9666.1515. eCollection 2025.
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors arising from adrenal medulla and extra-adrenal paraganglia. Metastatic pheochromocytomas, pose diagnostic and therapeutic challenges due to their atypical presentations and potential for malignant transformation years after primary tumor resection. We report a case of 61-year-old woman who presented with intermittent cough, shortness of breath, and elevated blood pressure 6 years after resection of primary adrenal pheochromocytoma. Imaging revealed bilateral pulmonary nodules, a retroperitoneal mass, and L4 vertebral involvement, raising suspicion for metastatic pheochromocytoma. Elevated serum meta-nephrines and normetanephrines, alongside tissue biopsy and MIBG imaging, confirmed diagnosis. Germline genetic testing did not reveal any pathogenic mutations. The patient underwent CT-guided cryoablation for retroperitoneal lymph nodes and scheduled for radiofrequency ablation (RFA) of metastatic lesions. This case underscores evolving understanding of PPGLs, challenging "10 % rule" regarding metastasis and inheritance. While mutations in genes such as SDHB are associated with increased metastatic risk, sporadic cases like this highlight need for lifelong surveillance in all patients' post-resection of primary tumor. Ablative techniques, EBRT, and emerging systemic therapies are promising methods for managing metastatic disease. This case highlights importance of long-term follow-up and genetic testing in patients with PPGLs, even in absence of hereditary mutations, to detect and manage late-onset metastatic disease efficiently.
嗜铬细胞瘤和副神经节瘤(PPGLs)是起源于肾上腺髓质和肾上腺外副神经节的罕见神经内分泌肿瘤。转移性嗜铬细胞瘤因其非典型表现以及在原发性肿瘤切除数年之后发生恶性转化的可能性,给诊断和治疗带来了挑战。我们报告了一例61岁女性患者,她在原发性肾上腺嗜铬细胞瘤切除术后6年出现间歇性咳嗽、气短和血压升高。影像学检查发现双侧肺结节、腹膜后肿块以及L4椎体受累,这引发了对转移性嗜铬细胞瘤的怀疑。血清间甲肾上腺素和去甲间甲肾上腺素升高,同时结合组织活检和MIBG显像,确诊了该病。胚系基因检测未发现任何致病突变。该患者接受了CT引导下的腹膜后淋巴结冷冻消融术,并计划对转移性病灶进行射频消融(RFA)。该病例强调了对PPGLs不断演变的认识,对关于转移和遗传的“10%规则”提出了挑战。虽然SDHB等基因的突变与转移风险增加有关,但像这样的散发性病例凸显了对所有原发性肿瘤切除术后患者进行终身监测的必要性。消融技术、外照射放疗(EBRT)以及新兴的全身治疗方法是治疗转移性疾病的有前景的方法。该病例突出了对PPGLs患者进行长期随访和基因检测的重要性,即使没有遗传性突变,也能有效地检测和管理迟发性转移性疾病。