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The choice of tests ordered by a doctor may vary depending on how the problem first comes to be recognised. They may include:
- Calcium levels
Calcium levels will often be raised in someone who has cancer in their parathyroid. Deranged levels of parathyroid hormone cause this increase.
- Parathyroid hormone levels
A cancerous parathyroid gland will often produce an increased amount of parathyroid hormone.
- Renal (kidney) function tests
An increase in blood levels of calcium may lead to deposition of calcium in the kidney and subsequent damage. At the time of diagnosis, it may be important to rule out any kidney damage or stones.
- Insulin and C-peptide
Measuring levels of insulin and C-peptide can test for a cancer that arises in the pancreas. Prolactin and growth hormone levels. Some cancers in MEN-1 may arise in a small gland just below the brain – the pituitary gland. This can be detected by measuring prolactin and growth hormone levels.
- MEN1 gene mutation testing
Multiple endocrine neoplasia type 1 usually has an autosomal dominant pattern of inheritance.The MEN1 gene codes for a protein called menin. Menin acts as a tumour suppressor. If both copies of the MEN1 gene are faulty not enough protein is produced and cells in some endocrine organs divide and proliferate uncontrollably leading to tumour development. More than 1000 different mutations have been found in the MEN1 gene in patients with MEN-1. DNA testing, which can detect most of these mutations, is available in Australia, however this testing is not covered by Medicare.
- Fine needle
When someone has a lump in the neck, a sample is taken in a procedure that uses a fine needle and is guided by ultrasound. The small amount of tissue can give an indication of whether or not the lump is cancer.
- Urine and plasma metanephrine
If someone develops a cancer within their adrenal gland they will often produce elevated levels of chemicals such as metanephrine. High urine and plasma levels of these chemicals are used to diagnose phaeochromocytoma.
- Serum calcitonin levels
Calcitonin is produced by the c-cells in the thyroid gland. In cases of medullary thyroid cancer it will often be raised. Calcitonin levels, as well as a calcitonin stimulation test may be ordered to confirm MTC.
- Thyroid function tests
These are one of the first tests ordered when a doctor suspects a problem with your thyroid. It includes TSH, FT4 and FT3 and provides information about how your thyroid in functioning.
- RET gene mutation testing
Multiple endocrine neoplasia type is also inherited in an autosomal dominant pattern. In these cases, one copy of the mutated gene is sufficient to cause the disorder. The RET proto-oncogene codes for a signalling protein called RET that spans the cell membrane in various types of cells. There are more than 25 known mutations that cause this protein to become overactive and send signals into the cell promoting uncontrolled cell growth even when it has no signalling molecule bound to its outside region. DNA testing to detect these known mutations is available in Australia and is covered by Medicare in patients with a suspected diagnosis of multiple endocrine neoplasia type 2.
Imaging of the abdomen may be used to look for other cancers at the time of diagnosis.
People with MEN-2 often develop a lump in the neck and this can be investigated with the use of ultrasound. This imaging technique allows doctors to assess the location and characteristics of the lump and to help guide them in taking a sample for the lab to assess.
It is important to note that due to the complex nature of these syndromes, the tests ordered by your doctor may vary from those listed above.
Last Review Date: September 7, 2019