Molecular Monitoring Of 8p11 Myeloproliferative Syndrome In An Infant

The 8p11 myeloproliferative syndrome is a rare hematologic malignancy derived front a pluripotent hematopoietic stern cell associated with rearrangements involving the fibroblast growth factor receptor 1 (FGFR1) gene located oil chromosome 8p11. The most common translocation, 1(8;13) (p11;q13), results in a ZAF198-FGFR1 fusion gene and constitutively active FGFR1 tyrosine kinase activity. Typical pathologic findings include myeloid hyperplasia, lymphadenopathy, precursor T-lymphoblastic lymphoma, and eosinophilia. The disease is usually associated with ail aggressive course and progression to acute myeloid leukemia is frequent. We report here the first case of 8p11 myeloproliferative syndrome in ail infant and demonstrate the value of molecular testing in the diagnosis and minimal disease monitoring of this rare disease.