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Sorted By Test Name - Mayo Medical Laboratories

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FMYO<br />

91544<br />

FCHOP<br />

84456<br />

Reference Values:<br />

Anti-Jo-1 Ab, U1 RNP, SSA52 KD AB, IgG:<br />

Reference Range: Negative<br />

Negative 80 units<br />

Mi-2, PL-12, PL-7, EJ, OJ, SRP, Ku, U2 snRNP, PM/Scl, P140, P155/140, Fibrillarin U3 RNP:<br />

Reference Range: Negative<br />

<strong>Test</strong> Performed by: RDL Reference Laboratory, Inc.<br />

10755 Venice Boulevard<br />

Los Angeles, CA 90034<br />

Myositis Antibody Panel<br />

Reference Values:<br />

Panel Includes: MI-2, PL-7, PL-12, EJ, OJ, KU, SRP, U2 SN RNP<br />

Normal Range: Negative<br />

<strong>Test</strong> Performed <strong>By</strong>: RDL Reference Laboratory, Inc.<br />

10755 Venice Boulevard<br />

Los Angeles, CA 90034<br />

Myxoid/Round Cell Liposarcoma 12q13 (DDIT3 or CHOP)<br />

Rearrangement, FISH, Tissue<br />

Clinical Information: Myxoid/round cell liposarcoma is the second most common subtype of<br />

liposarcoma, accounting for more than one third of all liposarcomas and representing about 10% of all<br />

adult soft-tissue sarcomas. Myxoid/round cell liposarcoma is described as a malignant tumor composed of<br />

uniform round to oval shaped primitive nonlipogenic mesenchymal cells and a variable number of small<br />

signet-ring lipoblasts in a prominent myxoid stroma with a characteristic branching vascular pattern. A<br />

unique chromosome translocation, t(12;16) (q13;p11), resulting in a fusion of the DDIT3 gene (also<br />

known as CHOP or GADD153) on chromosome 12 and the FUS gene (also referred to as TLS) on<br />

chromosome 16, is the key genetic aberration in myxoid/round cell liposarcoma. More than 90% of<br />

myxoid/round cell liposarcoma are cytogenetically characterized by this translocation. In rare cases, a<br />

variant t(12;22)(q13;q12) has been described in which DDIT3 (CHOP) fuses with EWS, a gene highly<br />

related to FUS.<br />

Useful For: As an aid in the diagnosis of myxoid/round cell liposarcoma by detecting a neoplastic<br />

clone associated with gene rearrangement involving the CHOP gene region at 12213.<br />

Interpretation: A neoplastic clone is detected when the percent of cells with an abnormality exceeds<br />

the normal cutoff for the CHOP probe. A positive result is consistent with a subset of myxoid/round cell<br />

liposarcoma. A negative result suggests no rearrangement of the CHOP gene region at 12q13. However,<br />

this result does not exclude the diagnosis of myxoid/round cell liposarcoma.<br />

Reference Values:<br />

An interpretive report will be provided.<br />

Clinical References: 1. Turc-Carel C, Limon J, Dal Cin P, et al: Cytogenetic studies of adipose<br />

Current as of January 4, 2013 7:15 pm CST 800-533-1710 or 507-266-5700 or <strong>Mayo</strong><strong>Medical</strong><strong>Laboratories</strong>.com Page 1278

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