#4353
Familial inactivating glucagon receptor mutation resulting in pancreatic neuroendocrine tumours with metastatic potential, somatic MEN1 mutations, and a heterozygous phenotype
Introduction:
Homozygous pathogenic glucagon receptor (GCGR) mutations cause a syndrome with pancreatic glucagon cell hyperplasia and neoplasia (GCHN) associated with Mahvash disease. This is an exceptionally rare autosomal recessive hereditary pancreatic neuroendocrine tumour (panNET) syndrome, with approximately ten cases documented in the literature.
Conference:
Presenting Author:
Kuiper J
Authors:
Kuiper J,
de Herder W,
Brahim Y,
van Velthuysen M,
Brosens L,
Keywords:
glucagon receptor mutation,
mahvash disease,
glucagon cell hyperplasia and neoplasia,
pancreatic neuroendocrine tumour,
MEN1,
#3273
LIBRETTO-531: Selpercatinib vs standard of care in patients (pts) with multikinase inhibitor-naïve advanced or metastatic RET-mutant (mut) medullary thyroid cancer (MTC)
Introduction:
Multikinase inhibitors (MKI) are approved for MTC; however, their efficacy in RETmut MTC is limited due to incomplete RET inhibition and significant toxicity. Selpercatinib (LOXO-292), a highly selective and potent FDA approved inhibitor of RET alterations including M918T, MKI resistance-associated V804M, and others, showed robust, durable clinical activity with a tolerable profile in pts with RETmut MTC in the Phase 1/2 LIBRETTO-001 study.
Conference:
18th Annual ENETS Concerence (2021)
Presenting Author:
Authors:
Leboulleux S,
Robinson B,
Hoff A,
Brose M,
Wirth L,
Keywords:
RET alteration,
medullary thyroid cancer (MTC),
phase 3 trial,
selpercatinib,
