Myelodysplastic Syndrome with Fibrosis
Supplemental Studies
Cytogenetic studies should be performed in all cases of myelodysplasia or suspected myelodysplasia
- FISH for MDS associated abnormalities is not indicated for screening but is helpful if <20 metaphases were examined on karyotyping
- In the setting of persistent cytopenia in the absence of definitive morphologic features of MDS:
- The following abnormalities are considered presumptive evidence of MDS
- Deletions
- -5, del(5q)
- -7, del(7q)
- del(9q)
- del(11q)
- del(12p)
- t(12p)
- -13, del(13q)
- i(17q), t(17p)
- idic(X)(q13)
- Translocations
- t(1;3)(p36.3;q21.2)
- t(2;11)(p21;q23)
- t(3;21)(q26.2;q22.1)
- inv(3)(q21q26.2) and t(6;9)(p23;q24)
- Most frequently present as AML and need to be closely monitored for overt transformation
- t(11;16)(q23;p13.3)
- The following are commonly found in MDS but are not by themselves considered definitional for MDS
