Germline TeT2 mutation

[Roderick McCune]

Hi,I have been on watch and wait for4 years. I recently had a BMB at Cleveland Clinic. Results indicated cytopenias of unknown origin. In the small print, my oncologist suspects not yet diagnosed MDS with Germline TeT2 mutation. I remain on every three months CBC. Has anyone experienced this diagnosis?

[Ashley Moncrief]

Hi Roderick,

Clonal cytopenia of unknown significance or CCUS is not MDS but does progress to MDS in a large number of cases (upwards of 80% of cases in a 10-year period). A germline mutation is one that is inherited, while somatic mutations are acquired overtime. TET2 mutations are one of the most frequent mutations found in MDS pre-cursor conditions such as CCUS. The risk of progression to MDS depends on a number of factors such as how frequently the mutation is seen (known as a variant allele frequency) and whether or not other mutations are present. The key takeaway is that monitoring is needed to catch progression early should it happen. I’m glad to hear your oncologist has you on a schedule to get lab work done. I hope this helps!

Ashley

[Roderick McCune]

Thanks Ashley for your reply to my questions regarding TeT2 mutations. You stated this is an inherited gene. None of my parents or grandparents had mds so not sure how I obtained this. Could you explain the inherited part. Thanks

[Ashley Moncrief]

Hi,

Sorry for the delay! Having the mutation (TET2) puts a person at risk for the disease (MDS). Not everyone who has the mutation will develop MDS; it just means the risk is higher. It could be possible that they had the mutation and never knew since it never led to MDS in their cases.

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