ECE2018 Guided Posters Adrenal medulla and NETs (11 abstracts)
Pituitary adenoma and pheochromocytoma/paraganglioma: a multicausal association of tumors
Fernando Guerrero 1 , Carmen Fajardo 2 , Elena Torres Vela 3 , Olga Giménez-Palop 4 , Arturo Lisbona Gil 5 , Tomas Martín 6 , Natividad González 6 , Juan José Díez 7 , Pedro Iglesias 7 & Carles Villabona 1
1Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Spain; 2Hospital Universitario de la Ribera, Valencia, Spain; 3Hospital Universitario San Cecilio, Granada, Spain; 4Hospital Universitari Parc Taulí, Sabadell, Spain; 5Hospital Universitario Central de la Defensa, Madrid, Spain; 6Hospital Universitario Virgen Macarena, Sevilla, Spain; 7Hospital Universitario Ramón y Cajal, Madrid, Spain.
Background: Pituitary adenomas (PA) and pheochromocytomas/paragangliomas (PCC/PGL) are the main components of MEN1 and MEN2, respectively. Although the presence of both tumors (3P association, 3PAs) in the same patient could be as a result of coincidence, at least in some cases, a common pathogenic mechanism has been involved. Recently has been confirmed that germline mutations in genes coding succinate dehydrogenase (SDH) play a role in pituitary tumorigenesis. Furthermore, MEN1 germline mutations have also been identified in patients with 3PAs.
Aim: To report the clinical data, management outcome and genetic mutations found in a multicenter retrospective study of 10 patients with 3PAs.
Results: Six patients were female and 4 male. Mean age at diagnosis of the first tumor was 51.6 years (range 36–73). PA was firstly detected in 6 patients and PCC/PGL in 4 cases. Acromegaly was present in 6 cases (3 microadenomas). The remaining PA were prolactinoma (3 patients) and non-functioning PA (NFPA) in 1 patient. Regarding PCC/PGL, 7 patients had a single tumor (4 PCC and 3 PGL) and in 3 cases multiple or bilateral disease was diagnosed (2 PGL and 1 PCC). Patients with acromegaly and the patient with NFPA underwent surgery. Patients with prolactinomas received medical treatment with dopamine agonist and one case required surgery because of drug intolerance. Unilateral adrenalectomy was undergone in all single 4 PCC and a bilateral procedure was performed in the patient with a bilateral tumor. Single tumor was resected in two cases with PGL. In one of the patients with multiple PGL, the largest cervical mass was removed and in other patient the mediastinal tumor was unresectable because of close proximity to vascular structures. In all cases, genetic tests were implemented. In 4/10 patients genetic investigation was positive. We found SHDB (1p36) mutation in one patient, SDHB exon 1 delection in one patient, SDHD (P81L exon 3) mutation in one patient and 1 MEN1 mutation in a further patient. In the remaining 6 patients genetic tests performed were negative.
Conclusion: The 3PAs is a very uncommon event and recent data provides strong evidence that PA can develop in patients with germline SDH mutations. MEN1 germline mutations have also been related to these patients. Genetic testing should be considered in all patients with this tumor association.
Volume 56
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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