Factores genéticos, clínicos y bioquímicos en pacientes con feocromocitoma

  1. Muñoz Ruiz, Mª Consuelo
Supervised by:
  1. Beatriz Febrero Sánchez Director
  2. José Manuel Rodríguez González Director

Defence university: Universidad de Murcia

Fecha de defensa: 28 October 2024

Committee:
  1. Pablo Ramírez Romero Chair
  2. Enrique Mercader Cidoncha Secretary
  3. Jesús María Villar del Moral Committee member

Type: Thesis

Sustainable development goals

Abstract

INTRODUCTION Pheochromocytoma is a tumour that has changed in recent years, both in its clinical presentation and in its genetic component. On the one hand, the increasing use of imaging tests and their greater accuracy has led to a rise in the diagnosis of pheochromocytoma following adrenal incidentaloma, with the majority being asymptomatic. In addition, family screening in cases with a genetic component has also contributed to the increase of initially asymptomatic cases. On the other hand, the rise of genetic testing has led to the detection of more familial cases. The aims of this thesis are: 1) to describe the demographic, clinical, diagnostic, and therapeutic characteristics of patients with pheochromocytoma, 2) to analyse patients with symptomatic pheochromocytoma and related variables, and 3) to determine patients with familial pheochromocytoma and related variables. MATERIAL AND METHODS Retrospective study of patients with pheochromocytoma treated and followed up in a tertiary hospital (Hospital Clínico Universitario Virgen de la Arrixaca) from 1984 to 2021, including both years. Demographic, localisation, clinical, diagnostic, therapeutic, histological and follow-up variables were analysed. Statistical analysis: SPSS 28.0 software. Univariate and multivariate logistic regression analyses were performed. Considering p<0.05 statistically significant. RESULTS A total of 173 patients were analysed. 53.18% (n=92) were female, with an average age at diagnosis of 44.36 ± 15.80 years. 64.71% (n=88) were familial pheochromocytomas. 32.39% (n=23) were index cases. The most frequent form of diagnosis was clinical (48.55%). 32.95% (n=57) were asymptomatic. In terms of biochemical diagnosis, mixed profile was the most frequent (43.93%), followed by adrenergic; and CT scan together with MIBG were the most frequently used imaging and Abstract functional tests. 60.6% (n=100) underwent laparoscopic surgery. Intraoperative complications occurred in 23.03% and postoperative complications in 15.76%. The mean tumour size was 4.07 ± 3.08 cm. The percentage of metastatic pheochromocytomas was 5.20%. Variables related to patients with symptomatic pheochromocytoma were: male sex (OR=0.33; p=0.023), mutation positive (OR=0.15; p=0.004), noradrenergic profile (OR=12.73; p=0.02) and occurrence of intraoperative complications (OR=5.34; p=0.021). Variables related to patients with familial pheochromocytoma were: age at diagnosis (OR=0.93; p=0.003), bilaterality (OR=30.22; p<0.001), having clinical manifestations related to blood pressure (OR=0.15; p=0.018) and size (OR=0.65; p=0.015). Variables specifically related to index cases were: age at diagnosis (OR=0.95; p=0.016) and bilaterality (OR=4.58; p=0.018). CONCLUSIONS The presentation of patients with pheochromocytoma has changed, with a considerable increase in asymptomatic and familial cases. Female sex, sporadic cases, and noradrenergic profile are associated with more symptomatic pheochromocytoma. In addition, symptomatic patients have more intraoperative complications. On the other hand, younger age, bilaterality, fewer blood pressure-related manifestations and smaller size are variables associated with familial pheochromocytoma. Index cases are associated with younger age and bilaterality.