APPARENTLY
SPORADIC MEDULLARY THYROID CANCER (MTC)
WHAT’S THE
PROPORTION OF PATIENTS WITH UNSUSPECTED GERMLINE MUTATIONS IN THE RET PROTOONCOGENE? CLINICAL IMPLICATIONS
This is an
important consideration, since these patients -despite being initially
diagnosed with apparently sporadic
MTC – will have heritable disease. It is estimated that approximately 6 – 7 % (range
2 – 25 %) of these patients have germline RET
mutations. Interestingly, a very high percentage (75 %) of patients with
familial MTC have no prior family history. This has obvious clinical
implications, since detection of unsuspected germline mutations in the RET protooncogene necessitates genetic
counseling and testing of other family members.
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