Dr. S and Dr. H both gave talks on BMT topics. Dr. H had handouts and I don’t think Dr. S did—she did get her hematology 101 or hematology basics handouts to us….. these are my notes from her talks…. If she had hand outs and I missed them….could someone send me a copy?
Here are my notes from her talk on BMT:
One of the questions she had up on the board was: when should transplant be considered?
First choice: HLA matched sibling who does not have SDS.
Be sure to check CBC for siblings. This is particularly difficult in patients without SBDS mutations. This is important! Must look for even subtle changes in CBC or marrow in sibling donors.
Basic principles of HSCT
immunosuppression (prevent graft rejection)
myeloablation (make room for new stem cells)
anti leukemic effect (kill minimal residual disease)
Conditioning—this is done by using chemotherapy with or without radiation (TBI) (TBI= total body irradiation)
Acute complications of allogeneic SCT
Endocrine issues are particularly important for children
Increased risk of solid tumors
Reduced Intensity Regimens
Advantage: reduced toxicity of conditioning regimen
Potential problems: not myeloablative (at least not in non-SDS patients)so there is a theoretical risk that premalignant host marrow cells might persist. It might actually be sufficient, but marrow might have SDS marrow left so SDS cells left could cause problems (Dr. Harris addressed this in his talk—not on his handouts--)
Timing of transplant
Factors increasing transplant associated risks
active or occult infections
leukemia (need to identify patients at high risk for leukemia)
Age: as patients get older, more side effects/transplant related risks increase
Risk of “preemptive transplant”
Cannot predict whether any individual patient will eventually need a transplant
HLA matching—get plans in place—it can take up to 6 months to find a donor.
If you have a rare HLA type—start early
Suggested Clinical Monitoring of Bone Marrow Failure
If blood counts are stable (in the normal/mildly low range)and clonal cytogenetics are absent: blood counts every 3-4 months and Bone marrow with cytogenetics every year
Clinical management if new cytogenetic clone is detected or blood counts are falling or rising: counts every 1-2 months, BMB with cytogenetics, then every one-six months, have plans for possible transplant in place. If everything then remains stable, may be able to back off of such frequent monitoring, but the clinical course will determine this.
Dr. S felt that it is important to use a study protocol so that they can learn from the experience. There in Seattle, they are using a new protocol called protocol 2256 using Treosulfan. Treosulfan has been used in SDS patients in Europe. The contact for the Seattle (she flashed this fast) is : firstname.lastname@example.org
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America