RETmutaatioiden

RETmutaatioiden refers to mutations in the RET proto-oncogene. The RET gene, located on chromosome 10, encodes a receptor tyrosine kinase involved in cell growth, differentiation, and survival. Aberrant RET signaling, often due to mutations, can lead to the development of various cancers.

There are two main categories of RET mutations: activating mutations and gene fusions. Activating mutations are typically point mutations that constitutively activate the RET kinase, promoting uncontrolled cell proliferation. These are commonly found in sporadic medullary thyroid carcinoma (MTC) and some cases of Hirschsprung disease. Germline activating mutations in RET are the primary cause of Multiple Endocrine Neoplasia type 2 (MEN2), a hereditary cancer syndrome encompassing MTC, pheochromocytoma, and parathyroid hyperplasia.

RET gene fusions occur when the RET gene rearranges and fuses with another gene, creating a novel fusion protein with oncogenic activity. These fusions are frequently observed in non-small cell lung cancer (NSCLC), particularly adenocarcinomas. The resulting RET fusion proteins are constitutively active and drive tumor growth.

The identification of RET alterations has significant therapeutic implications. Targeted therapies, such as tyrosine kinase inhibitors (TKIs) that specifically block RET activity, have been developed and are effective in treating cancers harboring RET mutations or fusions. These targeted treatments have improved outcomes for patients with RET-driven malignancies.