Glucagonoma screening: Difference between revisions
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{{CMG}}; {{AE}} {{PSD}} {{MAD}} | {{CMG}}; {{AE}} {{PSD}} {{MAD}} | ||
==Overview== | ==Overview== | ||
Screening of multiple endocrine neoplasias 1 associated glucagonoma improves morbidity and survival rates of patients. Biochemical screening depends on measuring gastrointestinal hormones: gastrin, insulin, glucagon, VIP, and pancreatic polypeptide chromogranin A, prolactin, and IGF-I in all individuals. 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 patients should have a periodic clinical, biochemical, and radiological screening program. | |||
==Screening== | ==Screening== | ||
Screening of | * Screening of multiple endocrine neoplasias 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. So, early | |||
* Criteria of screening:<ref name="pmid21454234">{{cite journal| author=Newey PJ, Thakker RV| title=Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice. | journal=Endocr Pract | year= 2011 | volume= 17 Suppl 3 | issue= | pages= 8-17 | pmid=21454234 | doi=10.4158/EP10379.RA | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21454234 }}</ref> | |||
* A first-degree relative of family member with known MEN1 mutation | * A first-degree relative of family member with known MEN1 mutation | ||
* Asymptomatic first-degree relative | * Asymptomatic first-degree relative | ||
* First-degree relative with familial MEN1 (i.e. one MEN1-associated tumor) | * First-degree relative with familial MEN1 (i.e. one MEN1-associated tumor) | ||
* Suspicious multiple parathyroid adenomas before the age of 40 yr; recurrent hyperparathyroidism; gastrinoma or multiple pancreatic NET at any age) or atypical for MEN1 (i.e. development of two nonclassical MEN1-associated tumors, e.g. parathyroid and adrenal tumor) | * Suspicious multiple parathyroid adenomas before the age of 40 yr; recurrent hyperparathyroidism; gastrinoma or multiple pancreatic NET at any age) or atypical for MEN1 (i.e. development of two nonclassical MEN1-associated tumors, e.g. parathyroid and adrenal tumor) | ||
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. | * Patients should be screened as early as possible; before 5 yr of age for asymptomatic individuals. | ||
Screening for MEN1 tumors is difficult because clinical and biochemical manifestations in members of any one family are not uniformly | * 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. | ||
similar. | |||
Biochemical screening depended on measuring: | ==== Biochemical screening ==== | ||
Biochemical screening depended on measuring:<ref name="pmid19622622">{{cite journal| author=Newey PJ, Jeyabalan J, Walls GV, Christie PT, Gleeson FV, Gould S et al.| title=Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors. | journal=J Clin Endocrinol Metab | year= 2009 | volume= 94 | issue= 10 | pages= 3640-6 | pmid=19622622 | doi=10.1210/jc.2009-0564 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19622622 }}</ref> | |||
* Serum concentrations of calcium | * Serum concentrations of calcium | ||
* Gastrointestinal hormones: gastrin, insulin, glucagon, VIP, and pancreatic polypeptide chromogranin A, prolactin, and IGF-I in all individuals | * Gastrointestinal hormones: gastrin, insulin, glucagon, VIP, and pancreatic polypeptide chromogranin A, prolactin, and IGF-I in all individuals | ||
==References== | * Pancreatic involvement in asymptomatic individuals has been detected by measuring fasting plasma concentrations of gastrin, pancreatic polypeptide, glucagon, and chromogranin A and by abdominal imaging.<ref name="pmid20833329">{{cite journal| author=Thakker RV| title=Multiple endocrine neoplasia type 1 (MEN1). | journal=Best Pract Res Clin Endocrinol Metab | year= 2010 | volume= 24 | issue= 3 | pages= 355-70 | pmid=20833329 | doi=10.1016/j.beem.2010.07.003 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20833329 }}</ref> | ||
* 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-yr intervals and it should be repeated throughout life because the disease may not manifest in some individuals until the eighth decade. | |||
==== Radiological screening ==== | |||
* Radiological screening should include an MRI of the pancreas, adrenal glands, and pituitary and repeated every 2 years.<ref name="pmid1677362">{{cite journal| author=Skogseid B, Eriksson B, Lundqvist G, Lörelius LE, Rastad J, Wide L et al.| title=Multiple endocrine neoplasia type 1: a 10-year prospective screening study in four kindreds. | journal=J Clin Endocrinol Metab | year= 1991 | volume= 73 | issue= 2 | pages= 281-7 | pmid=1677362 | doi=10.1210/jcem-73-2-281 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1677362 }}</ref> | |||
==== Genetic counselling ==== | |||
* All high-risk patients should be offered genetic counseling and MEN1 mutation testing. If the genetic tests result patients should have a periodic clinical, biochemical, and radiological screening program. | |||
* This may include examination for mutations in genes associated with familial parathyroid syndromes including CDC73 associated with the HPT-JT and the calcium sensing receptor (CASR) associated with FBHH; or cyclin-dependent kinase 1B (CDKN1B) and AIP which are rarely identified in those with clinical MEN1. | |||
== References == | |||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 18:47, 4 August 2017
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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 neoplasias 1 associated glucagonoma improves morbidity and survival rates of patients. Biochemical screening depends on measuring gastrointestinal hormones: gastrin, insulin, glucagon, VIP, and pancreatic polypeptide chromogranin A, prolactin, and IGF-I in all individuals. 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 patients should have a periodic clinical, biochemical, and radiological screening program.
Screening
- Screening of multiple endocrine neoplasias 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. So, early
- Criteria of screening:[1]
- A first-degree relative of family member with known MEN1 mutation
- Asymptomatic first-degree relative
- First-degree relative with familial MEN1 (i.e. one MEN1-associated tumor)
- Suspicious multiple parathyroid adenomas before the age of 40 yr; recurrent hyperparathyroidism; gastrinoma or multiple pancreatic NET at any age) or atypical 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 yr of age for asymptomatic individuals.
- 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.
Biochemical screening
Biochemical screening depended on measuring:[2]
- Serum concentrations of calcium
- Gastrointestinal hormones: gastrin, insulin, glucagon, VIP, and pancreatic polypeptide chromogranin A, prolactin, and IGF-I in all individuals
- Pancreatic involvement in asymptomatic individuals has been detected by measuring fasting plasma concentrations of gastrin, pancreatic polypeptide, glucagon, and chromogranin A and by abdominal imaging.[3]
- 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-yr intervals and it should be repeated throughout life because the disease may not manifest in some individuals until the eighth decade.
Radiological screening
- Radiological screening should include an MRI of the pancreas, adrenal glands, and pituitary and repeated every 2 years.[4]
Genetic counselling
- All high-risk patients should be offered genetic counseling and MEN1 mutation testing. If the genetic tests result patients should have a periodic clinical, biochemical, and radiological screening program.
- This may include examination for mutations in genes associated with familial parathyroid syndromes including CDC73 associated with the HPT-JT and the calcium sensing receptor (CASR) associated with FBHH; or cyclin-dependent kinase 1B (CDKN1B) and AIP which are rarely identified in those with clinical MEN1.
References
- ↑ 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.