Genomic PCR detects tumor cells in peripheral blood from patients with myxoid liposarcoma

✍ Scribed by Ioannis Panagopoulos; Pierre Åman; Fredrik Mertens; Nils Mandahl; Anders Rydholm; Henrik F. C. Bauer; Felix Mitelman

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 499 KB
• Volume: 17
• Category: Article
• ISSN: 1045-2257
• DOI: 10.1002/(sici)1098-2264(199610)17:2<102::aid-gcc5>3.0.co;2-9

✦ Synopsis

Myxoid liposarcoma (MLS) is the most common subtype of liposarcoma. The cytogenetic hallmark of MLS is the pathognomonic t( 12; I6)(q I3;p I I), present in more than 85% of cases. The translocation leads to the fusion of the CHOP and FUS genes at 12q I 3 and I6p I I, respectively, and the generation of a FUS/CHOP hybrid protein. The presence of a tumor-specific chimeric gene makes it possible to identify MLS cells by polymerase chain reaction (PCR). We have analyzed peripheral blood samples obtained during a 10-year period at diagnosis of primary and/or recurrent disease in I 9 MLS patients with t( 12; 16) and in one MLS patient with t( I2;22;20), resulting in the fusion of the CHOP and EWS genes. Nested PCR on genomic D N A from blood samples amplified FUSKHOP hybrid fragments in three patients and EWSICHOP in the patient with t( I2;22;20). There was no obvious association between PCR findings and clinical outcome, but larger series are needed to draw any firm conclusions.