Multiple endocrine neoplasia type 1 other diagnostic studies
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
Overview
Ultrasound
- Used for monitoring slow growing tumours and/or follow up of metastases.
- Ultrsound can also be used to guide biopsies.
- Endoscopic or endoluminal US can be used to identify and characterised GI NETS as well as obtaining samples for cytology or histology
Nuclear Medicine
- Common radiopharmaceutical is 111-indium-pentetreotide, which is a ligand for somatostatin receptor on the cell membrane of many NETS. Multiple tumour sites and/or metastasis can be identified using a gamma-camera to detect the emitted radiation
- Can be used in combination with cross-sectional imaging modalities to aid staging e.g. SPECT or PET-CT or PET-MRI 6
- Can be used to predict response to nuclear medicine based therapies, and, in some cases, to assess response to treatment.
- Care should be taken with interpretation of images as drugs can interfere with somatostain receptor expression, e.g. interferon.
- NETS can differentiate into tumours that do not express somatostatin receptors can become ‘image negative’ making reoccurrence or metastases more challenging to detect
other radiopharmaceuticals are also used, based on certain physiological characteristics e.g. cell surface receptors or uptake of molecules.
- Gallium-68 labelled somatostatin analogues (PET/CT) – thought to be more sensitive in detecting NETS expect pulmonary and hepatic metastases
for aggressive, rapidly growing tumours (i.e. high metabolism) Fluoro-di-glucose-PET/CT can be used (FDG-PET)
- F18 DOPA and C11 Hydroxytryptophan may be used in future but are not routinely available
Genetic Testing
- Identifying an MEN1 gene mutation in the proband early in the disease process can allow for early detection and treatment of tumors and earlier identification of at-risk family members.
- Many studies have been performed to determine the prevalence of MEN1 gene mutations among patients with apparently sporadic MEN1-related tumors.
- Genetic testing for mutations in MEN1 is recommended if one of the following conditions is present
- Gastrinoma at any age
- Multifocal duodenopancreatic NETs at any age
- Parathyroid hyperplasia/adenomas before age 30 or 40 years
- Multiglandular parathyroid adenomas/hyperplasia or recurrent primary hyperparathyroidism.
- Presence of one of the three main MEN1 tumors plus one of the less common tumors/findings
- Presence of two or more features (e.g., adrenal adenomas and carcinoid tumor)
- Individuals with isolated parathyroid and/or pituitary tumors are less likely to have an identifiable mutation than those with pancreatic tumors
- DNA sequencing is the primary method of genetic testing
- Haplotype analysis can be performed using specific locus markers flanking the MEN1 region and reaches a degree of confidence when a substantial number of affected members have been analysed.[1]
- Molecular genetic testing is used for predictive testing and prenatal diagnosis.
- Sequence analysis detects sequence alterations upto 70-90% familial mutation and 65% simplex mutation.
- Deletion testing detects MEN duplication or deletion upto 1-3% of the mutation.
Invasive imaging techniques e.g. biopsy, venous sampling
- Venous sampling can be used in small functional NETS where cross sec-tional imaging is equivocal.
- Multiple endocrine neoplasia type 1 can present with multiple lesions. Functional NETS can be identified from these, using calcium stimulation with venous sampling.
- Angiography and endovascular procedures, such as trans-arterial chemo-embolization (TACE), can be used to treat hepatic metastases.
Genetic Counselling
- It is an autosomal dominant disorder.
- Child of an individual to MEN1 syndrome has 50% chance of inheritance.
- Siblings of an individual affected by MEN1 syndrome have 50% chance of inheritance.
- If the germline mutation has been identified in an affected family member, molecular genetic testing can be used to screen the at risk relatives.
- Prenatal diagnosis during pregnancies of individuals with increased risk is available.
Reference
- ↑ Marini F, Falchetti A, Del Monte F, Carbonell Sala S, Gozzini A, Luzi E; et al. (2006). "Multiple endocrine neoplasia type 1". Orphanet J Rare Dis. 1: 38. doi:10.1186/1750-1172-1-38. PMC 1594566. PMID 17014705.