ECE2018 Poster Presentations: Adrenal and Neuroendocrine Tumours Endocrine tumours and neoplasia (34 abstracts)
Genetic background as a predictive factor of pheochromocytoma and paraganglioma presentation
Adriana De Sousa Lages 1, , Isabel Paiva 1 , Luís Cardoso 1, , Patrícia Oliveira 1 , Dírcea Rodrigues 1, , Carolina Moreno 1, , Diana Martins 1, , Diana Oliveira 1, , Mara Ventura 1, , Nelson Cunha 1 , Bernardo Marques 3 , Diana Catarino 1 , Lúcia Fadiga 1 & Francisco Carrilho 1
1Coimbra Hospital and University Center, Coimbra, Portugal; 2Faculty of Medicine, Coimbra University, Coimbra, Portugal; 3Portuguese Institute of Oncology of Coimbra FG, Coimbra, Portugal.
Introduction: Pheochromocytoma (Pheo) and paragangliomas (PGL) are rare catecholamine-producing tumors.Near 35% of patients have disease-causing germline mutations.10% are malignant although the malignancy rate differs accordingly to the genetic background.
Purpose: This study aims to characterize the sample of patients followed on a tertiary Portuguese Center and associate the presence of genetic mutation with clinical presentation.
Materials and Methods: Were included patients followed until November 2017 with proven histological diagnose.Statistical analysis was performed with SPSS v.25 –Fischer test: nominal variables and U de Mann-Whitney test: ordinal variables. Results with P<0.05 were considered statistically significant.
Materials and Methods: Results:We included 67 subjects (65 with disease; 2 asymptomatic carriers of exon 2 mutation of TMEM127 gene). From the 65 patients, 60 had Pheo, 3 head-and-neck PGL and 2 abdominal PGL. In 12.3% of the patients (8/65) evidence of metastatic disease was reported, of which 87.5% (7/8) identified at diagnose. The most frequent local of metastatic disease was bone (71.4%).7 patients died during follow-up (10.8%), 2 with previously known metastatic disease (1 Pheo;1 parapharyngeal PGL).Our sample was divided in 3 groups: negative genetic test (GT) (n=30; 28 Pheo); positive GT (n=17; 14 Pheo) – cluster 1 genes: 4 patients (VHL−3; SDH gene-1) and cluster 2 genes: 13 patients (RET-7; TMEM127−4; NF-2); unavailable GT (n=20; 10 Pheo). Compared with patients with negative GT, patients with positive GT were significantly associated to larger tumors (66.62±35.8 mm vs. 44.57±20.0 mm; P=0.031), bilateral disease (6 (40%) vs. 1 (3.3%); P=0.003), earlier age at diagnose (< 40 years: 9 (60%) vs. 6 (20%); P 0.017) and positive familiar history (8 (53.3%) vs. 1 (3.3%); P<0.001). Regarding to recurrence, the mean time (months) elapsed was lower in the positive GT group (4.40±15.5 vs. 7.53±23.5) without reaching a statistically significant difference (P>0.05). There were no significant differences on clinical presentation, suggestive imagiological characteristics on anatomical (CT or MRI scan) or functional techniques (123I-mIBG scan) (P>0.05).
Conclusions: In our sample, 1/3 of patients with history of Pheo/PGL presented a positive GT and near 12% showed metastatic disease, similarly to the data published in the literature. From the positive GT group, 93.3% were Pheo cases accordingly to the most frequent gene mutations identified – cluster 1: 3 patients with VHL mutations and cluster 2:13 patients. In this group, we also found a stronger association to bilateral disease, manifestation <40 years of age, positive familiar history and larger tumors.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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