BRAF is a star gene in the field of thyroid cancer.
gene detection is indispensable.
has detected the mutation of and .
What is the significance of the mutation found? Does the
mutation affect the treatment of the protocol ?
Today we will talk about the
BRAF gene
BRAF gene and cell proliferation and differentiation Melanoma, bowel cancer, thyroid cancer
But these changes exist only in tumor cells
are not passed on to the next generation
BRAF genes associated with thyroid cancer are V600E and K601E mutations It is present in 60-70% of papillary carcinomas
and 40% of poorly differentiated and undifferentiated carcinomas
If the BRAFV600E mutation is found
diagnosis of thyroid cancer ,How can assessment and treatment help?
BRAF mutation role
Used to diagnose
Everyone may know
If thyroid nodule biopsy (cytology)cannot diagnose good and evil
But genetic testing finds BRAF mutation Additional diagnostic value is limited
361 cytologically undiagnosed nodules in the above table
BRAF mutations were found in only 43 cases
BRAF mutations generally exist in papillary carcinomas with nuclear features typical of the classic type or high cell subtype
cells Diagnosis is not difficult
Cytological diagnosis is difficult in RAS-mutated follicular tumors
Used to evaluate
Some early studies have shown that
BRAF-positive papillary carcinoma has a slightly higher recurrence rate and mortality rate
slightly higher than negative papillary carcinomas papillary carcinomas
Papillary carcinomas with mutations may be more aggressive
but more evidence now suggests that
BRAF mutations have a very weak effect on prognosis
only when combined with more dangerous mutations such as TERT or TP53
has a prognostic effect Only has a more obvious impact
BRAF mutation predicts likelihood of benefit from iodine therapy
By type of genetic alteration
Papillary carcinoma includes BRAF mutation, RAS mutation,Three types of RTK fusions
RAS-mutated tumors retain a good iodine uptake ability
RTK (RET/NTRK/ALK) fusion tumors have the second highest impact on iodine uptake
BRAF gene has the greatest effect on iodine uptake
Therefore, BRAF-mutated tumors have no effect on iodine treatment Good
3 For routine treatment
Some people suggest that BRAF-mutated thyroid cancer should be treated more aggressively
For example, micro-cancers with mutations are not suitable for observation The positive rate among cancers
For tiny cancers that almost never lead to death
If such harsh observation conditions are given,
will definitely lead to overtreatment of
In addition, even if the BRAF gene has no mutation Department found that large-scale metastasis
or tumor metastasis to distant
full resection is still the most appropriate way The treatment plan
is still based on pathology, Tumor marker and low-dose iodine scan
Of course, you drink iodine once and it will not work.
If you know that the BRAF gene has a mutation
, you will understand the reason why the metastases do not take iodine.
Iodine treatment ends here.
4 Used for Drug treatment
Very few thyroid cancers develop to an uncontrolled stage
Need to be controlled by targeted drugs
If a BRAF mutation is found in the tumor gene
A BRAF inhibitor can be used
Both papillary or undifferentiated cancer
Use a BRAF inhibitor alone The effect is not good
The effect is doubled when combined with the drug
This also reminds us that some thyroid cancers are refractory
BRAF mutation is just a trigger There must be no mutation in
There is no mutation in the diagnosis and treatment plan.
is by no means detected a BRAF gene.
We immediately enter the era of precision medicine