ECE2017 Eposter Presentations: Adrenal and Neuroendocrine Tumours Adrenal medulla (21 abstracts)
Lung adenocarcinoma in a 34-year-old female SDHB asynptomatic mutation carrier – case report
Maria João Matos , Claudia Costa , Ana Paula Santos , Manuel Teixeira , Carlos Franco , João Bento , Isabel Azevedo , Susana Dias , Inês Lucena Sampaio , Ana Luísa Cunha & Isabel Torres
Portuguese Oncology Institute of Porto, Porto, Portugal.
Introduction: Patients with germline mutations in one of the succinate dehydrogenase (SDH) genes are at substantially increased risk of developing paragangliomas (PGL) and pheochromocytomas (PCC). Mutations in SDHB are the most commonly found gene mutations in PC/PGL and are associated with younger ages at presentation, higher rates of metastases and poorer prognosis. Although familial PGL syndromes were initially thought to predispose only for PCC and PGL, other tumor types such as gastrointestinal stromal tumors (GISTs), renal cell carcinomas (RCCs), and pituitary adenomas (PAs) have expanded the SDHx-associated tumor spectrum.
Case Report: A 34-year-old female patient, with a history of mild asthma, non-smoker, was referred to the Endocrinology Department as an asymptomatic carrier of a pathogenic heterozygous germline SDHB mutation (c.1-?_72+?del). Her paternal-uncle died from metastatic bladder paraganglioma by the age of …She had also family history of breast cancer (paternal-aunt) and prostate cancer (paternal-grandparent). Twenty-four-hour urinary excretion of fractionated catecholamines and metanephrines were in the normal range. Screening computed tomography (CT) scan showed a 3 cm mass in the lower lobe of the right lung. CT guided transthoracic lung biopsy revealed adenocarcinoma of probable primary lung origin. Staging positron emission tomography with 2-deoxy-2-[fluorine-18]fluoro-D-glucose (18F-FDG PET/CT) showed, besides malignant right lung involvement, moderate left paratracheal FDG uptake. She underwent inferior right lobectomy with mediastinal lymph node ressection and histologic examine confirmed lung adenocarcinoma pT2a N0 M0 R0, stage I B. The patient is under surveillance.
Discussion: Questions still remain unresolved concerning non PCC/PGL tumors in patients with germline pathogenic SDHx mutations with regard to their pathogenesis, clinicopathological phenotype, and possible causal relation to the aforementioned mutations.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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