PDF(Pubmed)
Abstract：
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.
摘要：
嗜铬细胞瘤（PCCs）和副神经节瘤（PGLs）代表由肾上腺髓质和肾上腺交感神经副神经节的嗜铬细胞引起的肿瘤。分别。PCCs通常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），但它们很少在生物化学上沉默。另一方面，PGL，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性，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年龄较小，并且患有多灶性疾病。特定的基因突变已经与涉及PCC/PGL的遗传性综合征很好地确定。进一步的研究旨在鉴定其他突变并描绘与这些突变相关的特定表型。一名34岁的妇女在腹腔镜阑尾切除术后接受评估，该切除术在最终病理上鉴定出4厘米高分化的神经内分泌肿瘤。进一步的检查包括重复CT扫描，然后进行DotatatePETCT扫描，该扫描显示与左肾上腺相关的大的（7.3x5.8cm）主动脉周围肿块。肾上腺功能检查为阴性，她的嗜铬粒蛋白A水平为679ng/mL。她确实报告了间歇性胸闷和心悸，但无症状。患者随后进行了剖腹探查术，左肾上腺切除术和邻近的肿瘤切除术，并完成了右半结肠切除术和回结肠吻合术。手术病理显示两个与多灶性PCC一致的不同肿块。结肠切除标本中未发现残留肿瘤，24枚淋巴结阴性。她恢复顺利，基因检测显示POLE和VHL基因具有不确定意义。她已经接受了遗传咨询，并将参加适当的监测方案。
