Thyroid cancers: types, symptoms, diagnosis

Thyroid cancers represent the most frequent neoplasms of the endocrine system, and among these, medullary thyroid carcinoma (MTC) accounts for approximately 10% of thyroid diseases

The different forms of thyroid cancers:

75% of MCT forms are sporadic in nature, while the remaining 25% comprise three different types of inherited cancer syndromes, collectively termed Multiple Endocrine Neoplasms Type 2 (MEN2):

  • Multiple Endocrine Neoplasia Type 2A (MEN2A);
  • Multiple Endocrine Neoplasia Type 2B (MEN2B);
  • Familial Medullary Carcinoma of the Thyroid (FMCT).

Each of the three hereditary cancer syndromes is caused by the presence of a germline mutation at the proto-oncogene RET.

Advances in Molecular Biology in Thyroid Cancers

Molecular biology in this field has made great strides in the last decade and it is now possible to make a diagnosis in the pre-clinical phase with a simple blood sample.

In this way, for example, if we find, through analysis, a mutation in the RAS gene, we can say that a follicular thyroid carcinoma is present (always associated with this variant in the genetic code), whereas in papillary carcinoma, the RET oncogene is often activated.

Thus there is the possibility, unlike with the more common biochemical screening tests used to monitor patients with a family history of thyroid disease, of selecting those who are really at risk, obviating the need to subject all members of a family indiscriminately to repeated clinical investigations.

Moreover, Molecular Biology tests in this field have some undisputed advantages, such as high sensitivity and greater specificity, so that a diagnosis can be provided even for those samples in which it is difficult to discriminate benign from cancerous lesions, which is crucial for pre-operative diagnosis.

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