University of Colorado Anschutz Medical Campus

Colorado Genetics Laboratory

The Colorado Genetics Laboratory (CGL) located on the University of Colorado Anschutz Medical Campus is a premier academic clinical cytogenetics laboratory. We provide comprehensive conventional cytogenetics and molecular cytogenetic testing services for constitutional (prenatal and postnatal) and oncology conditions. Our testing platforms include chromosome karyotype analysis, fluorescence in situ hybridization (FISH), and chromosomal microarray. CGL strives for the highest quality of clinical cytogenomic services to our patients and healthcare providers.

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New USP6 (17p13) and PDGFB (22q13) rearrangements FISH testing for bone and soft tissue neoplasms is now available at CGL.

Differentials of bone and soft tissue tumors could be challenging. Rearrangements of USP6 at 17p13 may result from the t(16;17)(q22;p13) translocation seen in aneurysmal bone cyst (ABC) or the t(17;22)(p13;q13) translocation present in nodular fasciitis (NF). Identification of a UPS6 rearrangement would aid in diagnosis of aneurysmal bone cyst and nodular fasciitis. Rearrangement of PDGFB at 22q13 is derived from the t(17;22)(q13;q13) reported in dermatofibrosarcoma protuberans (DFSP) and detection of a PDGFB rearrangement is highly specific for the diagnosis of dermatofibrosarcoma protuberans and its variants. FISH has been proven as an effective tool for detection of these rearrangements in bone and soft tissue neoplasms.

References

Oliveira, André M., and Margaret M. Chou. "USP6-induced neoplasms: the biologic spectrum of aneurysmal bone cyst and nodular fasciitis." Human pathology 45.1 (2014): 1-11.
Ha, Sang Yun, et al. "PDGFB rearrangement in dermatofibrosarcoma protuberans: correlation with clinicopathologic characteristics and clinical implications." Human pathology 44.7 (2013): 1300-1309.

Colorado Genetics Laboratory (SOM)

CU Anschutz

Bioscience 2

12705 East Montview Boulevard

Suite 400

Aurora, CO 80045

303-724-5701

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Colorado Genetics Laboratory

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Colorado Genetics Laboratory

Colorado Genetics Laboratory (SOM)