
Myeloproliferative Neoplasms (MPNs) are a group of hematological disorders characterized by the abnormal proliferation of blood-forming cells in the bone marrow. These disorders may lead to increased production of red blood cells, white blood cells, or platelets, disrupting the balance of blood cells. Genetic changes, such as alterations in the JAK2 gene, and specific chromosomal rearrangements may play a role in the development of MPNs. Identifying these genetic and chromosomal abnormalities can help classify the disease and distinguish it from other hematological disorders.
MPN treatment is planned according to the disease subtype, risk level, symptoms, and the patient’s overall health. Treatment options may include medications that control blood cell production, targeted therapies, and supportive care when needed. Genetic and chromosomal analyses can help characterize the disease and support clinical decision-making.
| Genetic Alterations | Method | Sample Type |
| CHIC2 deletion | FISH | Bone Marrow / Heparinized Blood |
| FGFR1 (8p12) rearrangement | FISH | Bone Marrow / Heparinized Blood |
| PDGFRB (5q33.1) rearrangement | FISH | Bone Marrow / Heparinized Blood |
| t(9;22) & variants | FISH | Bone Marrow / Heparinized Blood |
| JAK2 (9p24) rearrangement | FISH | Bone Marrow / Heparinized Blood |
| (12p13) rearrangement | FISH | Bone Marrow / Heparinized Blood |
| Monosomy 7 ve 7q deletion | FISH | Bone Marrow / Heparinized Blood |
| Trisomy 8 | FISH | Bone Marrow / Heparinized Blood |
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