Sorted By Test Name - Mayo Medical Laboratories

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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 in
aneurysmal bone cyst. Cancer Res 2004 Mar 15;64(6):1920-1923 2. Oliveira AM, Perez-Atayde AR,
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