Abstract Library

#4659 Current role of systemic lanreotide therapy of patients with advanced, unresectable, non-metastatic paraganglioma / pheochromocytoma (PPGL) sporadic and hereditary

Introduction: Retrospective, performed in prospective manner single-arm, open-label, case series study to assess the efficacy of lanreotide in patients with unresectable, non-metastatic paraganglioma / pheochromocytoma (PPGL) spontaneous or germline mutations.

Conference:

Presenting Author:

Authors: Kolasińska-Ćwikla A, Pęczkowska M, Michałowska I, Pałucki J, Roszkowska-Purska K,

Keywords: Paraganglioma / pheochromocytoma (PPGL) spontaneous or germline mutations, Lanreotide therapy, fractionated metoxycatecholamines,

#4604 Germline predisposition to neuroendocrine tumours of the pancreas (pNEN) based on mutations in DNA repair genes – BRCA1, BRCA2, PALB2, CHEK2, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, STK11

Introduction: Neuroendocrine tumours of the pancreas (pNEN) rank as the second most common epithelial neoplasms after pancreatic adenocarcinoma, with increasing prevalence and a mortality rate of 60%. Identifying germline mutations in DNA repair genes such as CHEK2, BRCA1/2, and MUTYH within pNEN cases may pave the way for personalised diagnostics and therapies.

Conference:

Presenting Author:

Authors: Jurecka Lubieniecka B, Ros-Mazurczyuk M, Oczko-Wojciechowska M, Cortez A, Handkiewicz-Junak D,

Keywords: pNEN, DNA repair genes,

#4550 The relationship between MEN1 germline mutations and SSTR2 expression in neuroendocrine tumours

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary disease characterised by the development of multiglandular parathyroid disease, pituitary tumours, and duodenopancreatic neuroendocrine tumours (NETs). Germline mutations in the tumour suppressor gene MEN1 are the underlying cause. Somatostatin receptor 2 (SSTR2) is commonly expressed by NETs. However, the expression of SSTR2 in patients with MEN1 remains unclear.

Conference:

Presenting Author: Chi Y

Authors: Sun Y, Tan H, Wang H, Shi S, Dong L,

Keywords: multiple endocrine neoplasia type 1, somatostatin receptor 2, neuroendocrine tumour,

#4246 Prevalence of germline mutations in pancreatic neuroendocrine tumors

Introduction: Approximately 10% of pancreatic neuroendocrine tumors (PanNETs) develop due to inherited syndromes. However, generally genetic counseling and testing is not performed routinely and little accumulated on the prevalence of PanNETs associated with the presence of germline mutations.

Conference:

Presenting Author:

Authors: Salimgereeva D, Feidorov I, Konyakhina A,

Keywords: PanNET, GENOME, NGS, CHEK2, MEN1,

#3953 Olaparib use in a patient diagnosed with BRCA2 mutated adrenocortical carcinoma: A case report

Introduction: Adrenocortical carcinoma (ACC) is a highly lethal endocrine malignancy with an estimated annual incidence of 1.5–2 cases per million. Only a small percentage of ACC cases are associated with hereditary cancer syndromes while, equally only a few cases, have been reported with BRCA mutation. Targeted therapy of ACC with germline mutations is an area of research which renders the treatment approach challenging.

Conference:

Presenting Author:

Authors: Kontana E, Tikas I, Boudina M, Chrysoulidou A, Andreadou A,

Keywords: adrenocortical carcinoma, brca2 mutation, olaparib,