The expression of the following oncogene is associated with a high incidence of Medullary carcinoma of thyroid –
Correct Answer: RET proto-oncogene
Description: RET protooncogene is a growth factor receptor (receptor tyrosine kinase)
The RET protein is a receptor for the glial cell lined derived neurotrophic factor and structurally related proteins that promote cell survival during neural development.
RET is normally expressed in the following cells
Parafollicular C cells of the thyroid
Adrenal medulla
Parathyroid cell precursors. Point mutation in the RET protooncogenes are associated with the following disorders.
(i) MEN type 2A -
There is point mutation in RET extracellular domain which causes constitutive dimerization and activation leading to:-
Medullary thyroid carcinoma
Adrenal and parathyroid tumours
(ii) MEN type 2B -
Point mutation in the RET cytoplasmic catalytic domain alter the substrate specificity of the tyrosine kinase and leads to:-
Thyroid tumours
Adrenal tumors
(iii) Sporadic Medullary thyroid carcinoma
Somatic rearrangement of the RET gene
(iv) Hirschsprung disease
This is caused by complete loss of RET function.
Category:
Pathology
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