Conclusions
The lack of GATA1f expression is a sensitive and specific immunohistochemical marker for MPD-DS.
Methods
Immunohistochemical studies for GATA1f expression were performed on bone marrow biopsy specimens.
Results
In all cases of MPD-DS, megakaryocytes lacked GATA1f expression. In contrast, GATA1f expression was detected in megakaryocytes in all specimen types from patients without DS (normal bone marrows, pediatric myelodysplastic syndrome, juvenile myelomonocytic leukemia, adult acute megakaryocytic leukemia [pediatric and adult; without trisomy 2]), as well as normal bone marrows from patients with DS. Conclusions: The lack of GATA1f expression is a sensitive and specific immunohistochemical marker for MPD-DS.