Strike Three for the 8p11 – an Illustrative Case of Variable Clinical Presentations in a Patient with Myeloid/lymphoid Neoplasms with FGFR1 Rearrangement

Introduction: Myeloid/lymphoid neoplasm with FGFR1 rearrangement, also known as 8p11 stem-cell syndrome, is a rare entity resulting from an abnormal fusion gene encoding an aberrant tyrosine kinase. A characteristic FGFR1 rearrangement at the 8p11 locus, results in variable clinical presentations, including acute lymphoblastic/myeloid leukaemia and myeloproliferative neoplasm. There are no targeted treatments for FGFR1 abnormalities, although tyrosine kinase inhibitors (TKI) have demonstrated efficacy.