Weldon Patrick T, McNally Megan
General Surgery, University of Missouri Kansas City, Kansas City, USA.
Surgical Oncology, Saint Luke's Hospital, Kansas City, USA.
Cureus. 2024 Apr 29;16(4):e59295. doi: 10.7759/cureus.59295. eCollection 2024 Apr.
Pheochromocytomas (PCCs) and paragangliomas (PGLs) represent tumors arising from chromaffin cells of the adrenal medulla and extra-adrenal sympathetic paraganglia, respectively. PCCs commonly produce one or more catecholamines (epinephrine, norepinephrine, and dopamine), but rarely are they biochemically silent. PGLs on the other hand, generally do not produce catecholamines. They have the highest heritability of all adrenal tumors and are known to be associated with genetic mutations. Patients with hereditary tumors typically present at a younger age and with multifocal disease when compared to sporadic disease. Specific genetic mutations have been well established with hereditary syndromes involving PCC/PGLs. Further research has aimed to identify other mutations and delineate specific phenotypes associated with these mutations. A 34-year-old woman presented for evaluation following a laparoscopic appendectomy that identified a 4-cm well-differentiated neuroendocrine tumor on final pathology. Further work-up included a repeat CT scan followed by a Dotatate PET CT scan which revealed a large (7.3 x 5.8 cm) periaortic mass related to the left adrenal gland. Functional adrenal work-up was negative and her Chromogranin A level was 679 ng/mL. She did report intermittent chest tightness and palpitations but was otherwise asymptomatic. The patient subsequently underwent an exploratory laparotomy with left adrenalectomy and adjacent tumor resection as well as completion of right hemicolectomy with ileocolonic anastomosis. Surgical pathology revealed two distinct masses consistent with multifocal PCC. No residual tumor was found in the colectomy specimen and 24 lymph nodes were negative. She had an uneventful recovery and genetic testing showed a variant of uncertain significance for the POLE and VHL genes. She has received genetic counseling and will be enrolled in an appropriate surveillance protocol.
嗜铬细胞瘤（PCCs）和副神经节瘤（PGLs）分别是起源于肾上腺髓质嗜铬细胞和肾上腺外交感神经副神经节的肿瘤。PCCs通常会产生一种或多种儿茶酚胺（肾上腺素、去甲肾上腺素和多巴胺），但在生化方面很少无异常表现。另一方面，PGLs一般不产生儿茶酚胺。它们在所有肾上腺肿瘤中具有最高的遗传度，并且已知与基因突变有关。与散发性疾病相比，遗传性肿瘤患者通常发病年龄较轻且患有多灶性疾病。特定的基因突变已与涉及PCC/PGLs的遗传综合征明确相关。进一步的研究旨在识别其他突变并描绘与这些突变相关的特定表型。一名34岁女性在腹腔镜阑尾切除术后前来评估，最终病理检查发现一个4厘米的高分化神经内分泌肿瘤。进一步的检查包括重复CT扫描，随后进行镓[68Ga] DOTATATE PET CT扫描，结果显示左肾上腺旁有一个大的（7.3×5.8厘米）主动脉旁肿块。肾上腺功能检查结果为阴性，她的嗜铬粒蛋白A水平为679 ng/mL。她确实报告有间歇性胸闷和心悸，但除此之外没有症状。该患者随后接受了剖腹探查术，进行了左肾上腺切除术和邻近肿瘤切除术，并完成了右半结肠切除术和回结肠吻合术。手术病理显示有两个不同的肿块，符合多灶性PCC。在结肠切除标本中未发现残留肿瘤，24个淋巴结均为阴性。她恢复顺利，基因检测显示POLE和VHL基因有意义未明的变异。她已接受遗传咨询，并将参加适当的监测方案。
