Fagundes Gustavo F C, Almeida Madson Q
Unidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM/25, Disciplina de Endocrinologia e Metabologia, Departamento de Medicina Interna, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, 01246-903, São Paulo, SP, Brazil.
Unidade de Oncologia Endócrina, Instituto do Câncer do Estado de São Paulo (ICESP), Faculdade de Medicina da Universidade de São Paulo, 01246-903, São Paulo, SP, Brazil.
J Endocr Soc. 2024 May 8;8(6):bvae078. doi: 10.1210/jendso/bvae078. eCollection 2024 Apr 6.
Pheochromocytomas and paragangliomas (PPGLs), rare neuroendocrine tumors arising from chromaffin cells, present a significant diagnostic challenge due to their clinical rarity and polymorphic symptomatology. The clinical cases demonstrate the importance of an integrated approach that combines clinical assessment, biochemical testing, and imaging to distinguish PPGLs from mimicking conditions, such as obstructive sleep apnea and interfering medication effects, which can lead to false-positive biochemical results. Although a rare condition, false-negative metanephrine levels can occur in pheochromocytomas, but imaging findings can give some clues and increase suspicion for a pheochromocytoma diagnosis. This expert endocrine consult underscores the critical role of evaluating preanalytical conditions and pretest probability in the biochemical diagnosis of PPGLs. Moreover, a careful differentiation of PPGLs from similar conditions and careful selection and interpretation of diagnostic tests, with focus on understanding and reducing false positives to enhance diagnostic accuracy and patient outcomes, is crucial.
嗜铬细胞瘤和副神经节瘤(PPGLs)是起源于嗜铬细胞的罕见神经内分泌肿瘤,因其临床罕见性和多形性症状表现而带来重大诊断挑战。临床病例表明,采用综合方法,将临床评估、生化检测和影像学检查相结合,以区分PPGLs与类似病症(如阻塞性睡眠呼吸暂停和干扰药物作用,这些可导致生化结果出现假阳性)非常重要。尽管是罕见病症,但嗜铬细胞瘤中可能出现甲氧基肾上腺素水平假阴性情况,不过影像学检查结果可提供一些线索并增加对嗜铬细胞瘤诊断的怀疑。此次专家内分泌会诊强调了评估分析前条件和检测前概率在PPGLs生化诊断中的关键作用。此外,仔细区分PPGLs与类似病症,仔细选择和解读诊断检测,重点在于理解和减少假阳性以提高诊断准确性和患者治疗效果,这至关重要。