Terrones-Lozano Alejandro, Hernández-Hernández Alan, Nathal Vera Edgar, Guinto-Nishimura Gerardo Yoshiaki, Balderrama-Bañares Jorge Luis, Ramírez-Rentería Claudia, de la Serna-Soto Judith, Reza-Albarran Alfredo Adolfo, Portocarrero-Ortiz Lesly
Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez (INNN) Neuroendocrinology, Mexico City, Mexico.
Neurosurgery (INNN), Mexico City, Mexico.
Case Rep Endocrinol. 2020 Jan 30;2020:6827109. doi: 10.1155/2020/6827109. eCollection 2020.
. Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla and from the extra-adrenal autonomic paraganglia, respectively. Only 1-3% of head and neck PGL (HNPGL) show elevated catecholamines, and at least 30% of Pheo and PGL (PCPG) are associated with genetic syndromes caused by germline mutations in tumor suppressor genes and proto-oncogenes. . A 33-year-old man with a past medical history of resection of an abdominal PGL at the age of eleven underwent a CT scan after a mild traumatic brain injury revealing an incidental brain tumor. The diagnosis of a functioning PGL was made, and further testing was undertaken with a PET-CT with 68Ga-DOTATATE, SPECT-CT 131-MIBG, and genetic testing. . The usual clinical presentation of functioning PCPG includes paroxistic hypertension, headache, and diaphoresis, sometimes with a suggestive family history in 30-40% of cases. Only 20% of PGL are located in head and neck, of which only 1-3% will show elevated catecholamines. Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation. However, different phenotypes can be observed depending on such germline mutations. Genetic testing is important in patients with PCPG since 31% will present a germline mutation. In this particular patient, an gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG. gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG.
嗜铬细胞瘤（Pheo）和副神经节瘤（PGL）是分别起源于肾上腺髓质嗜铬细胞和肾上腺外自主神经副神经节的罕见神经内分泌肿瘤。仅1%-3%的头颈部副神经节瘤（HNPGL）显示儿茶酚胺升高，并且至少30%的嗜铬细胞瘤和副神经节瘤（PCPG）与由肿瘤抑制基因和原癌基因的种系突变引起的遗传综合征相关。一名33岁男性，有11岁时腹部副神经节瘤切除病史，在轻度颅脑外伤后接受CT扫描，发现意外脑肿瘤。诊断为功能性副神经节瘤，并使用68Ga-DOTATATE进行PET-CT、131-MIBG进行SPECT-CT以及基因检测等进一步检查。功能性PCPG的常见临床表现包括阵发性高血压、头痛和多汗，有时在30%-40%的病例中有提示性家族史。仅20%的副神经节瘤位于头颈部，其中仅1%-3%会显示儿茶酚胺升高。高达50%的病例存在转移性疾病，通常与遗传性种系突变相关。然而，根据此类种系突变可观察到不同的表型。基因检测对PCPG患者很重要，因为31%的患者会出现种系突变。在该特定患者中，发现了一种基因突变，这可能会极大地影响后续计划和提供的遗传咨询。对于每一位患有PCPG的患者，多学科方法是必不可少的。发现了一种基因突变，这可能会极大地影响后续计划和提供的遗传咨询。对于每一位患有PCPG的患者，多学科方法是必不可少的。
