RETmutasjoner

RET mutations refer to alterations in the RET proto-oncogene, a gene that plays a crucial role in cell growth and development. These mutations can lead to a condition known as Multiple Endocrine Neoplasia type 2 (MEN2), which is characterized by the development of tumors in endocrine glands. RET mutations are broadly categorized into three subtypes: MEN2A, MEN2B, and Familial Medullary Thyroid Carcinoma (FMTC).

MEN2A is the most common form and is typically caused by specific point mutations in the RET gene. Individuals with MEN2A have an increased risk of developing medullary thyroid carcinoma, pheochromocytoma (a tumor of the adrenal gland), and parathyroid hyperplasia (enlargement of the parathyroid glands). MEN2B is rarer and more aggressive, often arising from different RET mutations. It is associated with medullary thyroid carcinoma, pheochromocytoma, ganglioneuromas (tumors of nerve tissue), and a Marfanoid habitus (physical characteristics resembling Marfan syndrome). FMTC is characterized solely by the development of medullary thyroid carcinoma and is also linked to specific RET mutations.

The inheritance pattern for MEN2 is autosomal dominant, meaning that a person only needs to inherit one copy of the mutated gene from a parent to be affected. Genetic testing is available to identify individuals who carry RET mutations, allowing for early screening and preventative measures, such as prophylactic thyroidectomy, to reduce the risk of developing cancer. Understanding RET mutations is vital for diagnosis, risk assessment, and the management of MEN2 syndromes.