XL 5q32 PDGFRB BA consists of an orange-labeled probe hybridizing proximal to the PDGFRB gene region at 5q32 and a green-labeled probe hybridizing distal to the PDGFRB gene region at 5q32-33.1.

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.

The updated (2016) World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues indicates the category myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, FGFR1, or with PCM1-JAK2.

Myeloid neoplasms (MPNs) with rearrangement of PDGFRB are phenotypically and genotypically diverse. The fusion genes involving PDGFRB described to date have been associated with cytogenetically detectable translocations. MPNs associated with rearrangement of PDGFRB are responsive to imatinib.

Clinical Applications

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

XL 5q32 PDGFRB BA hybridized to lymphocytes. Three normal interphases are shown.

• Wlodarska et al (1997) Blood 89:1716-1722
• Apperley et al (2002) N Engl J Med 347:481-487
• Wilkinson et al (2003) Blood 102:4187-4190

• 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.