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Pancreatic Neoplasms: HELP
Articles by Lyndal Tacon
Based on 1 article published since 2010
(Why 1 article?)

Between 2010 and 2020, Lyndal Tacon wrote the following article about Pancreatic Neoplasms.
+ Citations + Abstracts
1 Article Hypercalcemia in Glucagon Cell Hyperplasia and Neoplasia (Mahvash Syndrome): A New Association. 2018

Gild, Matti L / Tsang, Venessa / Samra, Jaswinder / Clifton-Bligh, Roderick J / Tacon, Lyndal / Gill, Anthony J. ·Department of Endocrinology and Diabetes, Royal North Shore Hospital, St Leonards, New South Wales, Australia. · University of Sydney, Sydney, New South Wales, Australia. · Department of Surgery, Royal North Shore Hospital, St. Leonards, New South Wales, Australia. · Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research, Royal North Shore Hospital, St. Leonards, New South Wales, Australia. ·J Clin Endocrinol Metab · Pubmed #30032256.

ABSTRACT: Context: Hyperglucagonemia in the absence of glucagonomas is rare. Biallelic-inactivating mutations in the glucagon receptor gene (GCGR) cause glucagon cell hyperplasia and neoplasia (GCHN), also termed Mahvash syndrome. Here, we report the first case to our knowledge of GCHN presenting with hypercalcemia and demonstrate a unique relationship between calcium and α-cell hyperplasia. Case Description: A 47-year-old man presented with severe PTH-independent hypercalcemia, 13.95 mg/dL (3.48 mmol/L). Imaging and extensive pathology tests yielded no conclusive cause. Glucagon levels >300 times the upper limit of normal were discovered. Subtotal pancreatectomy identified α-cell hyperplasia and neoplasia with metastatic disease in lymph nodes. Genomic analysis confirmed a homozygous missense variant in GCGR (Asp63Asn). This is a previously described pathologic variant and has a known association with GCHN. Conclusions: Inactivating mutations of the glucagon receptor gene lead to nonfunctional hyperglucagonemia and are associated with GCHN. Homozygous or compound heterozygous GCGR mutations are associated with α-cell hyperplasia, a known precursor to pancreatic neuroendocrine tumors that can metastasize. Hypercalcemia is an unreported consequence of GCHN with an unclear mechanism.