Andrea Frilling is a Professor of Surgery and Chair in Endocrine Surgery at Imperial College London. She is a practising consultant surgeon with an interest in the translation of basic medical research findings into the clinical setting. She has authored over 500 peer-reviewed publications, many in high impact journals. She received her primary medical education in Germany and achieved a PhD degree for her work on the X-linked dominant inheritance of phosphorylase kinase deficiency in mice. Her postdoctoral thesis on pre-symptomatic screening for medullary thyroid carcinoma in families of patients with multiple endocrine neoplasia syndrome type 2 was awarded with the von Langenbeck Prize, the most prestigious Award of the German Surgical Society. She trained in visceral surgery and has focused on endocrine and hepato-pancreato-biliary surgery.
Her research work on inhibition of oncogenic RET signalling by adenovector-mediated expression of a dominant negative RET mutant in medullary thyroid carcinoma has been awarded with substantive funds by the German Research Society. The German Cancer Foundation provided major grants for her work on pre-symptomatic genetic screening in patients with familial medullary thyroid carcinoma. She was a founding member of the international consortium that identified specific mutations of the RET protooncogene as the underlying genetic cause of the hereditary variant of medullary thyroid carcinoma (MTC) and set up studies on genotype-phenotype correlation in multiple endocrine neoplasia type 2 and familial medullary carcinoma (published in Nature Genetics). She introduced a genetic screening program for MTC into clinical practice in Germany and established the first national laboratory which offered DNA based RET mutational analysis for identification of gene carriers. This work has led to the recommendation of prophylactic thyroidectomy in asymptomatic RET protooncogene carriers with a consequence of clear prevention of cancer development. Her further research in thyroid tumours aimed to determine the molecular aetiology of follicular thyroid neoplasms and to improve the accuracy of diagnosis, clinical management and therapy of these distinct entities. Together with her US-based collaborators she identified a microarray-based genetic signature that can differentiate between benign and malignant follicular neoplasia of the thyroid.
Current research interests include discovery of novel biomarkers in neuroendocrine gastro-entero-pancreatic tumours and their validation during the patient journey. Utilising ‘omics’ technology she has shown that neuroendocrine tumours exhibit metabonomic patterns, miRNA profiles and gene transcripts signatures which can be used for early diagnosis, treatment selection, prediction of recurrence and assessment of response to therapy. She is a member of an international consortium which introduced and validated a new precision oncology framework for the systematic prioritisation of drugs targeting mechanistic tumor dependencies in individual neuroendocrine tumour patients (published in Nature Genetics). Her research is supported by CRUK, NIHR, EU FP7, and the Dr Heinz-Horst Deichmann Foundation.
Beside her basic science research work she has conducted comprehensive clinical research on the multimodal management of advanced neuroendocrine tumours. She demonstrated for the first time that neuroendocrine liver metastases appear in three morphologically different growth types which are predictive of outcome. Based on this information she has developed a new algorithm for their treatment. In 2012 she organised an International Consensus Conference on the management of neuroendocrine liver metastases resulting in novel guidelines for their treatment (published in Lancet Oncology). At Imperial she has created an interdisciplinary Centre of Excellence for management of neuroendocrine tumours accredited by the European Neuroendocrine Tumours Society (ENETS) with an emphasis on early diagnosis, multimodal treatment and translational research. This effort should contribute to precision treatment and overall improvement in patient survival. She is involved in development of ENETS and ESMO guidelines for management of neuroendocrine tumours. Together with ENETS and UEMS she is currently working on developing a curriculum for a NET Specialist.
et al., 2018, A precision oncology approach to the pharmacological targeting of mechanistic dependencies in neuroendocrine tumors., Nat Genet
Clift AK, Frilling A, 2018, Liver transplantation and multivisceral transplantation in the management of patients with advanced neuroendocrine tumours, World Journal of Gastroenterology, Vol:24, ISSN:1007-9327, Pages:2152-2162
et al., 2018, Correction: Assessing tumor molecular profiling to guide treatments for patients with advanced female genital tract malignancy., Oncotarget, Vol:9
et al., 2018, Goblet cell carcinomas of the appendix: rare but aggressive neoplasms with challenging management, Endocrine Connections, Vol:7, ISSN:2049-3614, Pages:268-277
et al., 2018, MAFA missense mutation causes familial insulinomatosis and diabetes mellitus, Proceedings of the National Academy of Sciences of the United States of America, Vol:115, ISSN:0027-8424, Pages:1027-1032