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Abstract：
BACKGROUND: Pheochromocytoma (PHEO) is a rare neuroendocrine tumour with a strong genetic link, which therefore may modify its clinical behaviour and prognosis. The aim of the study is to evaluate the epidemiological and clinical differences between patients with sporadic and familial PHEO, as well as the specific differences in the index cases.
METHODS: A retrospective analysis of 136 patients in a tertiary hospital (1984-2021). Epidemiological, clinical, and histological variables were analysed.
METHODS: SPSS 28.0 software was used. Univariate and multivariate logistic regression analyses were performed. p < 0.05 was considered statistically significant.
RESULTS: 64.71% of the cases (n = 88) presented a genetic mutation (familial cases). Additionally, 32.39% (n = 23) corresponded to index cases and the rest to screening cases. The main differences between patients with familial and sporadic PHEO were age (OR = 0.93 (0.89-0.97)), blood pressure-related symptoms (OR = 0.22 (0.06-0.89)), bilaterality (OR = 15.49 (3.76-63.84)), and size (OR = 0.70 (0.54-0.92)). Among patients with sporadic PHEO and index cases, only bilaterality was significant (OR = 13.53 (1.24-144.34)).
CONCLUSIONS: Patients with familial PHEO diagnosed by screening differ from sporadic cases in terms of age, clinical features, and size. However, patients with sporadic PHEO only differ from index cases by a lower presence of bilaterality, which reaffirms the importance of genetic screening of patients with PHEO and their relatives.
METHODS: A retrospective analysis of 136 patients in a tertiary hospital (1984-2021). Epidemiological, clinical, and histological variables were analysed.
METHODS: SPSS 28.0 software was used. Univariate and multivariate logistic regression analyses were performed. p < 0.05 was considered statistically significant.
RESULTS: 64.71% of the cases (n = 88) presented a genetic mutation (familial cases). Additionally, 32.39% (n = 23) corresponded to index cases and the rest to screening cases. The main differences between patients with familial and sporadic PHEO were age (OR = 0.93 (0.89-0.97)), blood pressure-related symptoms (OR = 0.22 (0.06-0.89)), bilaterality (OR = 15.49 (3.76-63.84)), and size (OR = 0.70 (0.54-0.92)). Among patients with sporadic PHEO and index cases, only bilaterality was significant (OR = 13.53 (1.24-144.34)).
CONCLUSIONS: Patients with familial PHEO diagnosed by screening differ from sporadic cases in terms of age, clinical features, and size. However, patients with sporadic PHEO only differ from index cases by a lower presence of bilaterality, which reaffirms the importance of genetic screening of patients with PHEO and their relatives.
摘要：
背景：嗜铬细胞瘤（PHEO）是一种罕见的神经内分泌肿瘤，具有很强的遗传联系，因此，这可能会改变其临床行为和预后。该研究的目的是评估散发性和家族性PHEO患者之间的流行病学和临床差异，以及指数案例的具体差异。
方法：对三级医院（1984-2021年）的136例患者进行回顾性分析。流行病学,临床,和组织学变量进行了分析。
方法：采用SPSS28.0软件。进行单变量和多变量逻辑回归分析。p<0.05被认为是统计学上显著的。
结果：64.71％的病例（n=88）存在基因突变（家族性病例）。此外,32.39％（n=23）对应于索引病例，其余对应于筛查病例。家族性和散发性PHEO患者之间的主要差异是年龄（OR=0.93（0.89-0.97）），血压相关症状（OR=0.22（0.06-0.89）），双边性(OR=15.49(3.76-63.84))，和大小(OR=0.70(0.54-0.92))。在散发性PHEO和索引病例的患者中，只有双侧性显著(OR=13.53(1.24-144.34))。
结论：通过筛查诊断为家族性PHEO的患者在年龄方面与散发性病例不同，临床特征,和大小。然而,散发性PHEO患者与指标病例的区别仅在于双侧性较低，这重申了对PHEO患者及其亲属进行基因筛查的重要性。
方法：对三级医院（1984-2021年）的136例患者进行回顾性分析。流行病学,临床,和组织学变量进行了分析。
方法：采用SPSS28.0软件。进行单变量和多变量逻辑回归分析。p<0.05被认为是统计学上显著的。
结果：64.71％的病例（n=88）存在基因突变（家族性病例）。此外,32.39％（n=23）对应于索引病例，其余对应于筛查病例。家族性和散发性PHEO患者之间的主要差异是年龄（OR=0.93（0.89-0.97）），血压相关症状（OR=0.22（0.06-0.89）），双边性(OR=15.49(3.76-63.84))，和大小(OR=0.70(0.54-0.92))。在散发性PHEO和索引病例的患者中，只有双侧性显著(OR=13.53(1.24-144.34))。
结论：通过筛查诊断为家族性PHEO的患者在年龄方面与散发性病例不同，临床特征,和大小。然而,散发性PHEO患者与指标病例的区别仅在于双侧性较低，这重申了对PHEO患者及其亲属进行基因筛查的重要性。
