
Myelodysplastic Syndromes (MDS) are a group of bone marrow disorders characterized by impaired blood cell production, which can prevent healthy blood cells from maturing properly. This may lead to complications such as anemia, increased susceptibility to infections, and bleeding. Chromosomal abnormalities and genetic changes may contribute to the development of MDS. These changes are important for disease classification, risk assessment, and evaluating the risk of progression to acute myeloid leukemia (AML).
MDS treatment is planned according to the disease risk category, genetic characteristics, the patient’s age, and overall health. Treatment options may include supportive care, blood transfusions, growth factors, hypomethylating agents, and allogeneic stem cell transplantation in eligible patients. Genetic and chromosomal analyses help characterize the disease and support clinical decision-making in treatment planning.
| Genetic Alterations | Method | Sample Type |
| Monosomy 5 ve 5q deletion | FISH | Bone Marrow / Heparinized Blood |
| Monosomy 7 ve 7q deletion | FISH | Bone Marrow / Heparinized Blood |
| Trisomy 8 | FISH | Bone Marrow / Heparinized Blood |
| Monosomy 20 ve 20q deletion | FISH | Bone Marrow / Heparinized Blood |
| MLL (11q23.1-q23.3) rearrangement | FISH | Bone Marrow / Heparinized Blood |
| Monosomy 17 ve TP53 deletion (17p13.1) | FISH | Bone Marrow / Heparinized Blood |
| t(3;3) | FISH | Bone Marrow / Heparinized Blood |
| MLLT3/MLL t(9;11) | FISH | Bone Marrow / Heparinized Blood |
| MLL/MLLT1 t(11;19) | FISH | Bone Marrow / Heparinized Blood |
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