ECE2018 Poster Presentations: Adrenal and Neuroendocrine Tumours Neuroendocrinology (10 abstracts)
Head and neck paragangliomas: genetic mutation and location of the tumors
José-María Recio-Córdova 1 , Cecilia Higueruela 1 , Rocío Cáceres 1 , María García-Duque 1 , Rogelio González-Sarmiento 2 , José-Manuel Miralles 1 , Juan-José Corrales-Hernández 1 & Ángel Muñoz-Herrera 3
1Service of Endocrinology and Nutrition, University Healthcare Complex of Salamanca, Salamanca, Spain; 2Service of Genetics, University Healthcare Complex of Salamanca, Salamanca, Spain; 3Service of Otolaryngology, University Healthcare Complex of Salamanca, Salamanca, Spain.
Introduction: Tumors derived from the paraganglionic system are rare. 90% of them are located on the adrenal gland, and the remaining 10% are extra-adrenal. Within this last group, 85% are located in the abdomen, 12% in the thorax, and 3% in the head and neck region (HNPG). Its proximity to important structures represents a great difficulty for resection. This makes it necessary to refer these patients to reference centers with multidisciplinary teams and specific surgical training.
Objectives: To determine whether there is a correlation between the genetic mutation of the head and neck paragangliomas, their location and the presence of metastasis.
Methods: Retrospective study. Inclusion criteria: patients with head and neck paragangliomas (HNPG) treated in our hospital between the years 2000 and 2016. In total, 97 patients were included, 65 women (66%) and 32 men (33%), with an age range of 14–84 years (mean age: 49 years). All of them were surgically removed. The SDHB, C and D genes were studied.
Results: Ninety-eight percent of the tumors were nonfunctional (normal metanephrines in urine after 24 h). Out of the 97 patients, 24 (23%) showed genetic mutations. Within this group, 9 patients had the SDHB mutation (41%); 8 patients had the SDHC mutation (37%); and 5 patients had the SDHD mutation (20%). There was no correlation between the genetic mutation and the location of the tumor. In the patients with SDHB mutation, 11% had a metastasis on diagnosis, compared with 3% in the group with sporadic tumors. Vagal HNPG represented 11% (10 patients) and had a higher malignacy rate: 15% of the cases.
Conclusions: In the HNPC in our series, the most frequently found mutation was SDHB, which was not associated with the location and which showed shorter survival in cases with metastasis.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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