XL FGFR1 consists of a green-labeled probe hybridizing proximal to the FGFR1 gene region at 8p11.2 and an orange-labeled probe hybridizing distal to the FGFR1 gene region at 8p11.2.

Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.

In 2008, the World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues introduced a new category for myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1. Many of these cases present as a myeloproliferative neoplasm, usually with eosinophilia.

The 8p11 myeloproliferative syndrome (MPD) also known as stem cell leukemia-lymphoma syndrome (SCLL) is associated with translocations disrupting FGFR1. Imatinib, which induces durable responses in MPDs with PDGFRA and PDGFRB fusion genes, is inactive in patients with FGFR1 translocations.

Clinical Applications

• Chronic Myelogenous Leukemia and Myeloproliferative Neoplasms (CML/MPN)

XL FGFR1 hybridized to bone marrow cells where a subpopulation with trisomy 8 was observed. One normal interphases is shown and one interphase with three fusion signals.

• Cross et al (2002) Leukemia 16:1207-1212
• Walz et al (2005) Leukemia 19:1005-1009
• Chase et al (2007) Blood 110:3729-3734

• Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.
• A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
• Distinct roles of ATM and ATR in the regulation of ARP8 phosphorylation to prevent chromosome translocations.
• Heterogeneous MYCN amplification in neuroblastoma: a SIOP Europe Neuroblastoma Study.
• Immense random colocalization, revealed by automated high content image cytometry, seriously questions FISH as gold standard for detecting EML4-ALK fusion.
• Fluorescence in situ hybridisation assays designed for del(7q) detection uncover more complex rearrangements in myeloid leukaemia cell lines
• Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation.
• A rare case of t(11;22) in a mantle cell lymphoma like B-cell neoplasiaresulting in a fusion of IGL and CCND1: case report.
• Genomic DNA-chip hybridization in t(11;14)-positive mantle cell lymphomas shows a high frequency of aberrations and allows a refined characterization of consensus regions.