Myelodysplasias Flashcards
Big picture, what is a Myelodysplastic syndrome and what is the age of most patients?
Old like 70
Conditions when blood forming cells, so the precursors, become abnormal and we don’t get the matura blood cells, so we are looking at penias.
MDS can occur because exposure to what?
Chemo, benzene and radiation
What 2 specific family of chemo drugs leads to MDS?
Alkylating agents and topoisomerase inhibitors
What 3 mutations can lead to MDS?
GATA2, RUNx1, and telomerase repair gene mutations
Even though there are these associations with MDS, what is the typical setting it presents in?
It is a disease of aging, so cumulative causes of damage to the bone marrow
What is the big time risk we are worried about with MDS?
Progressing to leukemia
What is a gene mutation uniquely found in MDS and what is it associated with?
SF3B1
Sideroblastic anemia
Which gene mutation in MDS has good prognosis and which 4 have bad prognosis?
SF3B1
EZh2, tp53, runx1, and asxl1
What are the MDSs manifested by?
Anemia and maybe thrombocytopenia and leukopenia. Essentially, pancytopenia
What is therapy for MDS?
Basically, anything that is low, give it to them. RBCs, need transfusion or EPO. Platelets low, give platelets. Leukopenia, might need to give CSF or antibiotics for infections. Chemo to help slow the transformation to leukemia.
What is the only curative therapy for MDS?
Stem cell transplantation
What is the hope of the chemo drugs given for MDS?
Alter gene regulation to allow for differentiation and maturation of blood products
What are the two chemo drugs to use for MDS and what is the main toxicity we are worried about with them?
Azacitidine and decitabine but the ironic thing is their adverse effect is to worsen the myelosuppression.
What are 4 cytogenic abnormalities associated with MDS and which mutation is associated with anemic MDS?
Deletions of 5, 7, 20 and trisomy 8
5q deletion
What drug do we use for anemia in MDS patients that have the 5 q deletion?
Lenalidomide
