Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

60714
centromeres of chromosomes 3, 7, and 17, and a locus-specific probe to the 9p21 band (site of the P16
tumor suppressor gene). The UroVysion assay detects cells with chromosomal abnormalities that are
consistent with a diagnosis of UC. Studies have shown that the assay has higher sensitivity but similar
specificity than urine cytology for the detection of recurrent UC. The UroVysion assay also demonstrates
higher specificity than the BTA-stat assay for recurrent UC. See Fluorescence In Situ Hybridization for
the Detection of Urothelial Carcinoma in Publications.
Useful For: Monitoring for tumor recurrence in patients with a history of urothelial carcinoma
involving the bladder or upper urinary tract and for assessing patients with hematuria for urothelial
carcinoma
Interpretation: Positive: any specimen satisfying 1 of the following criteria. -Four or more cells
with gains of 2 or more chromosomes -Ten or more cells with a gain of a single chromosome or 10 or
more cells with tetrasomic signal patterns (ie, 4 copies for each of the 4 probes) -Homozygous deletion
of the 9p21 locus in > or =20% of the cells analyzed For cases that are positive, the percentage of
abnormal cells and type of chromosomal abnormality (ie, polysomy, trisomy, tetrasomy, or homozygous
9p21 deletion) are indicated in the test report. Negative: -Fewer than 4 cells with gains of 2 or more
chromosomes -Fewer than 10 cells with gain of a single chromosome or tetrasomy -Less than 20% of
cells with homozygous 9p21 deletion
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Halling KC, King W, Sokolova IA, et al: A comparison of cytology and
fluorescence in situ hybridization for the detection of urothelial carcinoma. J Urol
2000;164(5):1768-1775 2. Sokolova IA, Halling KC, Jenkins RB, et al: The development of a
multi-target, multi-color fluorescence in situ hybridization assay for the detection of urothelial
carcinoma in urine. J Mol Diagn 2000;2(3):116-123 3. Halling KC, King W, Sokolova IA, et al: A
comparison of BTA stat, hemoglobin dipstick, telomerase, and Vysis UroVysion assays for the
detection of urothelial carcinoma in urine. J Urol 2002;167(5):2001-2006 4. Halling KC: Vysis
UroVysion for the detection of urothelial carcinoma. (erratum appears in Expert Rev Mol Diagn. 2004
Mar,4[2]:266). Expert Review of Molecular Diagnostics. 2003 Jul;3(4):507-19
USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis,
FISH
Clinical Information: Aneurysmal bone cyst (ABC) is a multicystic and expansile bone tumor of
uncertain line of differentiation. USP6 fusion genes are detectable in approximately 70% of primary
ABC and not in other conditions that may simulate ABC histologically, including giant cell tumor of
bone, osteosarcoma, osteoblastoma, brown tumor, cherubism, and vascular neoplasms. Nodular fasciitis
(NF) is a self-limited mesenchymal lesion of myofibroblastic differentiation. NF rapid growth, rich
cellularity, and brisk mitotic activity may lead to a misdiagnosis of sarcoma. USP6 fusions are
detectable in 90% of NF but not in other conditions that may simulate NF, including dermatofibroma,
cellular fibrous histiocytoma, fibromatosis, and a large variety of sarcomas.
Useful For: Supporting the diagnosis of aneurysmal bone cyst or nodular fasciitis
Interpretation: An interpretive report will be provided. A neoplastic clone is detected when the
percent of cells with an abnormality exceeds the normal reference range for the USP6 FISH probe
(positive result). A positive result is consistent with rearrangement of the USP6 gene locus on 17p13
and supports the diagnosis of aneurysmal bone cyst (ABC) or nodular fasciitis (NF). A negative result is
consistent with no rearrangement of the USP6 gene locus on 17p13. However, this result does not
exclude the diagnosis of ABC or NF. Rearrangement varies in individual tumors and among different
cells in the same tumor.
Reference Values:
0-9% rearranged cells
Clinical References: 1. Oliveira AM, Hsi B, Weremowicz S, et al: USP6 (Tre2) fusion oncogenes
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