RET gene mutation

DESCRIPTION – RET gene rearrangement is also known as RET/PTC rearrangement. It is the most common mutation in thyroid papillary carcinomas.

CLINICAL UTILITY – RET encodes for a tyrosine kinase receptor. Translocations involving RET were first described in papillary thyroid carcinoma were somatic rearrangements in the fusion of its TK catalytic domain with an N-terminal dimerization domain encoded by various fusion partner genes. RET rearrangements occur in approx. 1-2% of lung adenocarcinomas and 10-20% papillary thyroid carcinomas. Detection of RET rearrangements is useful for diagnostic classification of disease and for predicting tumor response for targeted therapy.

METHODOLOGY – polymerase chain reaction (PCR)

TURN AROUND TIME – 6 days

PATIENT PREPARATION –

COLLECT – tumor tissue

SPECIMEN PREPARATION – formalin fixed paraffin embedded tissue block. Protect the slides from excessive heat

STORAGE/TRANPORT TEMPERATURE - room temperature (8-25 degrees C)

STABILITY – ambient: indefinitely; refrigerated: indefinitely

UNACCEPTABLE CONDITIONS – alternate fixatives and decalcified specimens

MRP – 3500

SPECIAL INSTRUCTIONS – tissue block must contain 10% of tumor tissue. Clinical history is mandatory