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[Medullary thyroid carcinoma--familial or sporadic disease?]
J Høie1, O G Jørgensen, J M Nesland
1Avdeling for kirurgisk onkologi, Det Norske Radiumhospital, Oslo.
Summary
Medullary thyroid cancer can be inherited. Screening relatives of patients with elevated calcitonin levels can detect familial disease, even in subclinical stages.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Medullary thyroid cancer (MTC) is often autosomal dominantly inherited.
- Calcitonin is a highly sensitive tumor marker for MTC.
- Screening first-degree relatives of MTC patients is crucial for detecting familial and subclinical disease.
Observation:
- In 55 MTC patients without a family history, nine relatives from four families showed elevated calcitonin.
- Eight of these nine relatives underwent thyroidectomy.
- Post-surgery, five were diagnosed with MTC, one with C-cell hyperplasia, and two with equivocal C-cell hyperplasia.
Findings:
- Elevated basal serum calcitonin levels were observed in two relatives, with no further increase after pentagastrin stimulation.
- Thyroidectomy did not alter these calcitonin level findings.
- DNA analysis may be required to definitively assess the hereditary status of these individuals.
Implications:
- Early detection of familial medullary thyroid cancer through calcitonin screening is vital.
- Further genetic analysis might be necessary for definitive diagnosis in ambiguous cases.
- This highlights the importance of comprehensive screening protocols for hereditary endocrine cancers.