Similar MDS Translocation?

[LizR]

My husband Bob was dx 11/2012 with RAEB II 12% blasts. Rare t(1;3)(p36.3q21) with a mutation in his RUNX1 and ETV6 genes. Is there anyone here with something similar? Unlike most MDS patients he has no platelet issues and is on Vidaza, Aranesp and Desferal. He’s transfusion dependent every 3 weeks. Last week his Dr. talked about going ahead with transplant after 7 months of leaning against it. We can’t seem to find anyone close enough in diagnosis to ask about different treatments and/or transplant as the Dr. says this type of MDS reacts differently from most others. They can’t tell yet if the Vidaza is working until the next BMB in late July.

Any info is appreciated!

[tytd]

Hi Liz,
I hope that your husband is responding to the Vidaza. Testing for point mutations such as RUNX1 and ETV6 is on the cutting edge so you must be going to an uptodate center. An article published about 2 years ago in the New England Journal of Medicine described certain mutations that would seem to indicate a poorer prognosis in MDS. RUNX1 and ETV6 were 2 of these as I am sure that your husband's doctor has told you. That is probably why he has indicated that transplant might be the best route. Of course, the blast percentage and abnormal karyotype also puts him in the higher risk IPSS category. Whether he is in good health other than the MDS , that is, whether he has any other comorbidities or other illnesses will make a difference as to his ability to survive a transplant . How is he tolerating the Vidaza and may I ask what his blood counts at diagnosis were? Good luck to both of you. Tytd

[LizR]

Thanks for responding. The test he had was called the Next-Gen MDS Sequencing that is new from Genoptix and he was the first patient from Las Vegas to have it done.

Bob is in good health other than his MDS. The Vidaza treatment started off well - then had a bump in the middle and had to reduce the amount due to his ANC - and is now at full dose and tolerating it well with 5 cycles done.

His counts at dx were: WBC 5.9, RBC 2.8, HGB 8.3, PLT 272, ANC 2.5
2 weeks later they were: WBC 4.5, RBC 1.8, HGB 7.3, PLT 309, ANC 1.6

Do you need any other counts?

He doesn't want to consider transplant until his next BMB in hope that it shows the Vidaza is working. They did find him 2 MUDs so we've taken that step but we have no center near us so the living in another state is a problem. He says being unique was never a problem until now!