ECEESPE2025 ePoster Presentations Adrenal and Cardiovascular Endocrinology (170 abstracts)
A case of concurrent RET and FH GENE mutations in a patient with metastatic pheochromocytoma
Vasiliki Siampanopoulou 1 , Florentia Fostira 2 , Petros Papalexis 1 , Alexandros-Aristeidis Lafioniatis 1 , Georgia Tsirou 1 , Varvara Chalmatzi 1 , Constantine Stratakis 3 & Anna Angelousi 1
1Endocrinology Unit, First Internal Medicine Department, Laiko General Hospital of Athens, National and Kapodistrian University of Athens, Athens, Greece; 2Human Molecular Genetics Laboratory INRASTES (Institute of Nuclear and Radiological Sciences and Technology, Energy and Safety), National Centre for Scientific Research Demokritos, Athens, Greece; 3Human Genetics & Precision Medicine, DIGENIA & EDIMO, Institute of Molecular Biology and Biotechnology of the Foundation for Research and Technology Hellas (IMMB-FORTH), Heraklion, Greece
JOINT13
Introduction: Pheochromocytomas are rare tumours arising from the adrenal medulla. Numerous genetic defects have been identified either as a part of inherited syndromes or in sporadic forms.
Objective: We present the case of a 64-year-old female patient diagnosed with bilateral pheochromocytomas in 2009 treated surgically with bilateral adrenalectomy (R0, ki67<1%). She presented 14 years later with hypertension and important weight loss. Imaging showed multiple lesions in the retroperitoneal area, pulmonary and liver metastasis. Hormonal workup revealed plasma metanephrines and normetanephrines >400 times the upper normal limit. Fine needle biopsy (FNB) of the hepatic lesion was compatible with metastatic pheochromocytoma (ki67<2%.)
Methods: Germline testing was pursued through a 67-cancer gene panel following genetic counselling.
Results: Genetic testing revealed a RET pathogenic variant, i.e.c.2370G>T p.(Leu790Phe) which is strong predisposing factor for pheochromocytoma diagnosis. A concurrently present variant in the fumarate hydratase (FH) gene was also identified; our patient was heterozygous for the c.1127A>C p.(Gin376Pro) (cluster 1b), 1127A>C, p.(Gin376Pro) which is classified as pathogenic and is associated with hereditary leiomyomatosis and renal clear cell carcinoma (HLRCC). Further familial genetic testing is expected to provide crucial information about the penetrance of the aforementioned predisposing variants.
Conclusions: Genetic analysis plays a critical role in the diagnosis and management of patients with pheochromocytomas. We presented an individual who had not just one but two clinically important germline variants, accounting perhaps for the aggressiveness of her tumour. The presence of clinically relevant variants may contribute to define not only genotype-phenotype correlations but are also important for cascade testing of asymptomatic individuals within the family.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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