SFEBES2023 Poster Presentations Endocrine Cancer and Late Effects (15 abstracts)
Pilot study of liquid biopsy in paragangliomas: a feasible alternative to tissue biopsy in inoperable and multifocal lesions?
Gemma White 1,2 , Mark Quinn 1,3 , Paul Carroll 3 , Anand Velusamy 3 , Sonu Thakali 3 , Rebecca J. Oakey 1 , Louise Izatt 2,1 & Fahim-UI Hassan 4
1Department of Medical and Molecular Genetics, King’s College London, London, United Kingdom. 2Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, London, United Kingdom. 3Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, United Kingdom. 4Department of Nuclear Medicine, Guy’s and St Thomas’ NHS Foundation Trust, London, United Kingdom
Background: Phaeochromocytoma and paraganglioma (PPGL) are highly heritable, with 30-40% due to a germline pathogenic variant. An additional 40% of tumours will harbour a somatic variant. Understanding the variant status of a tumour enables molecular classification. Liquid biopsy offers a novel approach to non-invasive diagnostics by harnessing the ability to detect small amounts of circulating-free DNA (cfDNA) and performing genomic sequencing. There are few studies examining the use of liquid biopsy in PPGLs.
Methods: This pilot study was undertaken in a patient with congenital cyanotic heart disease and multifocal in situ PPGLs, likely driven by lifelong hypoxia. 30ml of peripheral blood was collected in Streck BCT® tubes. Extraction of cfDNA was performed by CeGaT GmbH and was used for next generation sequencing with a panel of 750 genes, including BRAF, EPAS1, FH, HRAS, MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127 and VHL.
Results: A 52-year-old female with a history of congenital cyanotic heart disease presented with a 15mm bladder paraganglioma and lymph node metastasis. Following resection, functional imaging with Gallium-68 DOTATATE demonstrated three further paragangliomas, one in the mediastinum and two in the neck. Her plasma normetadrenaline levels were raised. Germline genetic testing did not detect variants in 14 PPGL susceptibility genes. Due to high anaesthetic risk, she has been managed with long-acting somatostatin analogues and regular surveillance. From 30ml of peripheral blood, 34ng of cfDNA with an average length of 170bp was obtained. Next generation sequencing using a custom panel was successfully performed. Analysis of sequencing data will be presented.
Discussion: We have demonstrated that liquid biopsy may be feasible in patients with inoperable PPGLs. If underlying genetic drivers of the tumour can be detected, particularly when germline testing is negative, this may improve access to emerging targeted therapies and guide decisions in surveillance strategies and prognostication.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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