XL 5p15/9q22/15q22 Hyperdiploidy consists of a green-labeled probe hybridizing to a region at 5p15.2-15.3, an aqua-labeled probe hybridizing to a region at 9q22.3-31 and an orange-labeled probe hybridizing to the SMAD6 gene region at 15q22.3.

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 multiple myeloma (MM) pathogenesis, hyperdiploidy and non-hyperdiploidy are recognized as two major cytogenetic pathways. The hyperdiploid group is characterized by gains of the odd chromosomes 3, 5, 7, 9, 11, 15, 19, and 21. Hyperdiploidy has been internationally defined and requires trisomy for at least 2 of the 3 chromosomes 5, 9, and 15.

Patients with hyperdiploid MM, which can be observed in 50-60% of MM patients, tend to have a better prognosis than those with a non-hyperdiploid subtype.

Clinical Applications

• MM

XL 5p15/9q22/15q22 hybridized to lymphocytes. Two normal interphases are shown.

• Wuilleme et al (2005) Leukemia 19:275-278
• Kumar et al (2009) Mayo Clin Proc 84:1095-1110
• Bochtler et al (2011) Blood 117:3809-3815

• 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.