NDLI: Specificity of TLS-CHOP rearrangement for classic myxoid/round cell liposarcoma: absence in predominantly myxoid well-differentiated liposarcomas.

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Specificity of TLS-CHOP rearrangement for classic myxoid/round cell liposarcoma: absence in predominantly myxoid well-differentiated liposarcomas.

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Specificity of TLS-CHOP rearrangement for classic myxoid/round cell liposarcoma: absence in predominantly myxoid well-differentiated liposarcomas.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Antonescu, C. R. Elahi, A. Humphrey, M. Lui, M. Y. Healey, J. H. Brennan, M. F. Woodruff, J. M. Jhanwar, S. C. Ladanyi, M.
Description	Country affiliation: United States Author Affiliation: Antonescu CR ( Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA.)
Abstract	Myxoid liposarcoma (LS), the most common subtype of LS, is known to be characterized by the specific t(12;16) resulting in a TLS-CHOP fusion in almost all cases. We wished to address the following questions: (i) Is this genetic hallmark also present in other types of LS with predominant myxoid change? (ii) What is the proportion of cases with the variant EWS-CHOP fusion? (iii) What is the optimal approach for Southern blot detection of TLS breakpoints? We identified 59 LS characterized histologically by >90% myxoid component, in which frozen tissue tumor was available for DNA extraction. These 59 LS with myxoid features were divided into 2 groups: 42 LS with classic myxoid/round cell appearance (myxoid LS) and 17 well-differentiated LS (WDLS) with a predominant (>90%) myxoid component. Within the myxoid LS group, 29 tumors were low grade and 13 high grade (>20% round cell component). Among the 17 predominantly myxoid WDLS, there were 15 low grade and 2 focally high grade tumors. In addition, we selected as control group, 20 LS of other histological types with minimal or no myxoid change (17 WDLS and 3 pleomorphic LS) and 13 myxofibrosarcomas. Southern blot analysis was performed in all cases using a CHOP cDNA probe, and in all CHOP rearranged cases using a TLS cDNA probe. Probe/enzyme combinations for Southern blot analysis were CHOP exon 3-4 cDNA probe with BamHI or SacI, TLS exon 3-6 cDNA probe with BclI. All 42 cases of myxoid LS showed a CHOP rearrangement and 38 of them also had a TLS rearrangement. Among the 4 myxoid LS without Southern blot evidence of TLS rearrangement, 1 showed an EWS-CHOP fusion by Southern blotting and reverse transcriptase-polymerase chain reaction and in another case, reverse transcriptase-polymerase chain reaction detected a TLS-CHOP fusion transcript. None of the predominantly myxoid WDLS and none of the tumors included in the control group showed rearranegements with CHOP probe. In addition, 12 predominantly myxoid WDLS, 10 other LS, and 5 myxofibrosarcoma from the control group were also tested for TLS rearrangement; all were negative. The TLS-CHOP fusion is highly sensitive and specific for the entity of classic myxoid/round cell LS. Other types of LS, even with a predominant myxoid component, lack the TLS-CHOP rearrangement, confirming that they represent a genetically distinct group of LS. The prevalence of the EWS-CHOP variant fusion was approximately 2% in this series. The optimal enzyme for TLS genomic breakpoint detection is BclI.
File Format	HTM / HTML
ISSN	15251578
e-ISSN	19437811
Journal	The Journal of Molecular Diagnostics
Issue Number	3
Volume Number	2
Language	English
Publisher	Elsevier
Publisher Date	2000-08-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Molecular Biology Ccaat-enhancer-binding Proteins Genetics Carcinoma, Small Cell Diagnosis Liposarcoma, Myxoid Oncogene Proteins, Fusion Blotting, Southern Classification Chromosome Breakage Chromosome Mapping Fibroma Heterogeneous-nuclear Ribonucleoproteins Histocytochemistry Rna-binding Protein Ews Rna-binding Protein Fus Ribonucleoproteins Transcription Factor Chop Translocation, Genetic Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s.
Content Type	Text
Resource Type	Article
Subject	Molecular Medicine Pathology and Forensic Medicine

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