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FGFR1 pin



Methodology: FISH

Clinical Significance:
Translocations that disrupt the fibroblast growth factor receptor-1 (FGFR1) gene are associated with a disease known as 8p11 myeloproliferative syndrome (EMS)/stem cell leukemia-lymphoma syndrome. This syndrome is characterized by myeloid hyperplasia that rapidly transforms to acute myelogenous leukemia and/or lymphoma within a year of the original diagnosis. In the “stem cell” myeloproliferative disorders, a mutation in the pluripotent hematopoietic progenitor results in a spectrum of diseases including T- or B-cell lymphoblastic lymphoma, bone marrow myeloid hyperplasia, and eosinophilia. These poor prognostic disorders are related to recurrent breakpoints on chromosome 8p11 that involve translocation of the FGFR1 gene. Tyrosine kinase fusions involving FGFR1 exhibit an aggressive and more variable sensitivity to current tyrosine kinase inhibitors, like imatinib, so in most cases long-term disease-free survival may only be obtainable with allogeneic hematopoietic stem cell transplantation.

Organ: Blood/Bone Marrow

Disease State:

CPT Code(s): 88374. The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Turnaround Time: Within 4-6 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Peripheral blood, Preferred: 3 ml in sodium heparin (green top) / Acceptable: 3 ml in EDTA (purple top) - OR - • Bone marrow aspirate, Preferred: 1-2 ml in sodium heparin (green top) / Acceptable: 1-2 ml in EDTA (purple top) - OR - • Fresh tissue in RPMI