Glucagonoma screening
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Parminder Dhingra, M.D. [2], Mohammed Abdelwahed M.D[3]
Overview
Screening of multiple endocrine neoplasia type 1 associated glucagonoma improves morbidity and survival rates of patients. Biochemical screening depends on measuring gastrointestinal hormones such as gastrin, insulin, glucagon, VIP, pancreatic polypeptide, chromogranin A, prolactin, and IGF-1 in all patients. Radiological screening should include an MRI of the pancreas, adrenal glands, and pituitary and repeated every 2 years. All high-risk patients should be offered genetic counseling and MEN1 mutation testing. If the genetic tests result is positive, patients should have a periodic clinical, biochemical, and radiological screening program.
Screening
- Screening of multiple endocrine neoplasia type 1 associated glucagonoma improves morbidity and survival rates of patients.
- The survival rate of early diagnosed and treated glucagonoma is 85% while this rate falls to 60% in patients with malignant disease.
- Sporadic cases present in their fifth decade whereas patients with MEN I present at the younger age of 33 years. So, familiar cases of glucagonoma should be diagnosed and treated as soon as possible.[1][2]
Criteria of screening
- A first-degree relative of family member with known MEN1 mutation.
- Asymptomatic first-degree relative.
- First-degree relative with familial MEN1, for example, one MEN1-associated tumor.
- Suspicious multiple parathyroid adenomas before the age of 40 years, recurrent hyperparathyroidism, gastrinoma or multiple pancreatic NET at any age.
- Atypical features for MEN1 (i.e. development of two nonclassical MEN1-associated tumors, e.g. parathyroid and adrenal tumor).
- Patients should be screened as early as possible, before 5 years of age for asymptomatic patients.
- Biochemical screening for the development of MEN1 tumors in asymptomatic members of families with MEN1 is likely to be of benefit in as much as earlier diagnosis and treatment of these tumors may help reduce morbidity and mortality. Screening for MEN1 tumors is difficult because clinical and biochemical manifestations in members of any one family are not uniformly similar.[3]
Biochemical screening
- Biochemical screening depends on measurement of:[4]
- Serum concentrations of calcium in all patients as the earliest manifestation for MEN1 is hyperparathyroidism.
- Gastrointestinal hormones: Gastrin, insulin, glucagon, pancreatic polypeptide, chromogranin A, prolactin, and IGF-1 in all patients.
- Pancreatic involvement in asymptomatic patients has been detected by measuring fasting plasma concentrations of gastrin, pancreatic polypeptide, glucagon, and chromogranin A and by abdominal imaging.[5]
- Screening should be done at least once annually and also have baseline pituitary and abdominal imaging which should then be repeated at 1- to 3-year intervals and it should be repeated throughout life because the disease may not manifest in some patients until the eighth decade.
Radiological screening
- Radiological screening should include an MRI of the pancreas, adrenal glands, and pituitary and repeated every 2 years.[6]
Genetic counselling
- All high-risk patients should be offered genetic counseling and MEN1 mutation testing. If the genetic tests result are positive, patients should have a periodic clinical, biochemical, and radiological screening program.[3]
- This may include examination for mutations in genes associated with familial hyperparathyroidism including CDC73 associated with the HPT-JT and the calcium sensing receptor (CASR), or cyclin-dependent kinase 1B (CDKN1B) and AIP which are rarely identified in those with clinical MEN1.
References
- ↑ Wermers RA, Fatourechi V, Wynne AG, Kvols LK, Lloyd RV (1996). "The glucagonoma syndrome. Clinical and pathologic features in 21 patients". Medicine (Baltimore). 75 (2): 53–63. PMID 8606627.
- ↑ Wermers RA, Fatourechi V, Wynne AG, Kvols LK, Lloyd RV (1996). "The glucagonoma syndrome. Clinical and pathologic features in 21 patients". Medicine (Baltimore). 75 (2): 53–63. PMID 8606627.
- ↑ 3.0 3.1 Newey PJ, Thakker RV (2011). "Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice". Endocr Pract. 17 Suppl 3: 8–17. doi:10.4158/EP10379.RA. PMID 21454234.
- ↑ Newey PJ, Jeyabalan J, Walls GV, Christie PT, Gleeson FV, Gould S; et al. (2009). "Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors". J Clin Endocrinol Metab. 94 (10): 3640–6. doi:10.1210/jc.2009-0564. PMID 19622622.
- ↑ Thakker RV (2010). "Multiple endocrine neoplasia type 1 (MEN1)". Best Pract Res Clin Endocrinol Metab. 24 (3): 355–70. doi:10.1016/j.beem.2010.07.003. PMID 20833329.
- ↑ Skogseid B, Eriksson B, Lundqvist G, Lörelius LE, Rastad J, Wide L; et al. (1991). "Multiple endocrine neoplasia type 1: a 10-year prospective screening study in four kindreds". J Clin Endocrinol Metab. 73 (2): 281–7. doi:10.1210/jcem-73-2-281. PMID 1677362.