G2Cdb::Human Disease report

Disease id
D00000037
Name
Pleomorphic liposarcoma
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002162 FUS
fused in sarcoma
Y (9676855) Translocation fusion (with another gene) (TF) Y
G00002162 FUS
fused in sarcoma
Y (15720420) Translocation fusion (with another gene) (TF) Y

References

  • Gene expression profile identifies a rare epithelioid variant case of pleomorphic liposarcoma carrying FUS-CHOP transcript.

    De Cecco L, Gariboldi M, Reid JF, Lagonigro MS, Tamborini E, Albertini V, Staurengo S, Pilotti S and Pierotti MA

    FIRC Institute for Molecular Oncology Foundation, IFOM, Milano, Italy.

    Aims: To describe a tumour with morphological and immunophenotypic characteristics of epithelioid variant of pleomorphic liposarcoma. Pleomorphic liposarcoma is a very rare variant of liposarcoma defined morphologically by the presence of pleomorphic lipoblasts showing peculiar epithelial-like features that can be confused with primary or metastatic carcinoma.

    Molecular analysis demonstrated for the first time the presence of FUS-CHOP transcript in this liposarcoma variant. Microarray analysis revealed a gene expression profile related to a more aggressive tumour type when compared with other myxoid/round cell liposarcomas.

    Conclusions: The present data show that the epithelioid variant of pleomorphic liposarcoma represents a further variant of myxoid liposarcoma sharing the FUS-CHOP fusion transcript but carrying a distinct expression profile, in keeping with its aggressive clinical course.

    Histopathology 2005;46;3;334-41

  • Analysis of FUS-CHOP fusion transcripts in different types of soft tissue liposarcoma and their diagnostic implications.

    Willeke F, Ridder R, Mechtersheimer G, Schwarzbach M, Duwe A, Weitz J, Lehnert T, Herfarth C and von Knebel Doeberitz M

    Department of Surgery, University of Heidelberg, Germany. frank_willeke@ukl.uni-heidelberg.de

    In myxoid and round cell liposarcomas, a specific chromosomal translocation [(12;16)(q13;p11)] results in the expression of chimeric fusion transcripts encompassing parts of the FUS gene (16p11) at their 5' ends and the CHOP gene (12q13) at their 3' ends. Using a reverse transcription-PCR protocol, we determined the prevalence of FUS-CHOP fusion transcripts in a series of liposarcoma samples. Fusion transcripts were detected in 13 of 30 biopsy samples from soft tissue liposarcomas. Expression of fusion transcripts was not restricted to myxoid and round cell liposarcomas, as suggested previously; it was also detected in 1 of 3 well-differentiated and 4 of 14 pleomorphic liposarcomas. Sequence analysis revealed four different FUS-CHOP fusion transcript variants, two of which have not been described before. Furthermore, using FUS-CHOP fusion transcripts as targets in reverse transcription-PCR assays, we detected disseminated tumor cells in peripheral blood or bone marrow in 3 of 5 patients undergoing surgery for soft tissue liposarcoma.

    Clinical cancer research : an official journal of the American Association for Cancer Research 1998;4;7;1779-84

Literature (2)

Pubmed - human_disease

  • Gene expression profile identifies a rare epithelioid variant case of pleomorphic liposarcoma carrying FUS-CHOP transcript.

    De Cecco L, Gariboldi M, Reid JF, Lagonigro MS, Tamborini E, Albertini V, Staurengo S, Pilotti S and Pierotti MA

    FIRC Institute for Molecular Oncology Foundation, IFOM, Milano, Italy.

    Aims: To describe a tumour with morphological and immunophenotypic characteristics of epithelioid variant of pleomorphic liposarcoma. Pleomorphic liposarcoma is a very rare variant of liposarcoma defined morphologically by the presence of pleomorphic lipoblasts showing peculiar epithelial-like features that can be confused with primary or metastatic carcinoma.

    Molecular analysis demonstrated for the first time the presence of FUS-CHOP transcript in this liposarcoma variant. Microarray analysis revealed a gene expression profile related to a more aggressive tumour type when compared with other myxoid/round cell liposarcomas.

    Conclusions: The present data show that the epithelioid variant of pleomorphic liposarcoma represents a further variant of myxoid liposarcoma sharing the FUS-CHOP fusion transcript but carrying a distinct expression profile, in keeping with its aggressive clinical course.

    Histopathology 2005;46;3;334-41

  • Analysis of FUS-CHOP fusion transcripts in different types of soft tissue liposarcoma and their diagnostic implications.

    Willeke F, Ridder R, Mechtersheimer G, Schwarzbach M, Duwe A, Weitz J, Lehnert T, Herfarth C and von Knebel Doeberitz M

    Department of Surgery, University of Heidelberg, Germany. frank_willeke@ukl.uni-heidelberg.de

    In myxoid and round cell liposarcomas, a specific chromosomal translocation [(12;16)(q13;p11)] results in the expression of chimeric fusion transcripts encompassing parts of the FUS gene (16p11) at their 5' ends and the CHOP gene (12q13) at their 3' ends. Using a reverse transcription-PCR protocol, we determined the prevalence of FUS-CHOP fusion transcripts in a series of liposarcoma samples. Fusion transcripts were detected in 13 of 30 biopsy samples from soft tissue liposarcomas. Expression of fusion transcripts was not restricted to myxoid and round cell liposarcomas, as suggested previously; it was also detected in 1 of 3 well-differentiated and 4 of 14 pleomorphic liposarcomas. Sequence analysis revealed four different FUS-CHOP fusion transcript variants, two of which have not been described before. Furthermore, using FUS-CHOP fusion transcripts as targets in reverse transcription-PCR assays, we detected disseminated tumor cells in peripheral blood or bone marrow in 3 of 5 patients undergoing surgery for soft tissue liposarcoma.

    Clinical cancer research : an official journal of the American Association for Cancer Research 1998;4;7;1779-84

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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