G2Cdb::Human Disease report

Disease id
D00000013
Name
Myxoid oral liposarcoma
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002162 FUS
fused in sarcoma
Y (16414544) Translocation fusion (with another gene) (TF) Y

References

  • Detection of TLS/FUS-CHOP fusion transcripts in a case of oral liposarcoma.

    Rivero ER, Mesquita RA, de Sousa SC and Nunes FD

    Department of Oral Pathology, School of Dentistry, University of São Paulo, 05508-900 São Paulo, Brazil.

    Objective: The aim of this study was to detect the chromosomal translocation t(12;16)(q13;p11) that leads to a gene fusion encoding a FUS-CHOP chimeric protein and has been shown to be highly characteristic of myxoid and round cell subtypes of liposarcoma, in a case of oral myxoid liposarcoma.

    Nested reverse transcriptase-polymerase chain reaction to detect the TLS/FUS-CHOP fusion gene transcript was performed. A case of inflammatory fibrous hyperplasia and a case of oral lipoma were included as negative controls.

    Results: Only the myxoid oral liposarcoma showed a 103-base pair product, specific of TLS/FUS-CHOP fusion type II transcript.

    Conclusion: The identification of FUS-CHOP transcript is potentially useful in the diagnosis and research of oral liposarcomas.

    Annals of diagnostic pathology 2006;10;1;36-8

Literature (1)

Pubmed - human_disease

  • Detection of TLS/FUS-CHOP fusion transcripts in a case of oral liposarcoma.

    Rivero ER, Mesquita RA, de Sousa SC and Nunes FD

    Department of Oral Pathology, School of Dentistry, University of São Paulo, 05508-900 São Paulo, Brazil.

    Objective: The aim of this study was to detect the chromosomal translocation t(12;16)(q13;p11) that leads to a gene fusion encoding a FUS-CHOP chimeric protein and has been shown to be highly characteristic of myxoid and round cell subtypes of liposarcoma, in a case of oral myxoid liposarcoma.

    Nested reverse transcriptase-polymerase chain reaction to detect the TLS/FUS-CHOP fusion gene transcript was performed. A case of inflammatory fibrous hyperplasia and a case of oral lipoma were included as negative controls.

    Results: Only the myxoid oral liposarcoma showed a 103-base pair product, specific of TLS/FUS-CHOP fusion type II transcript.

    Conclusion: The identification of FUS-CHOP transcript is potentially useful in the diagnosis and research of oral liposarcomas.

    Annals of diagnostic pathology 2006;10;1;36-8

© 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).

Cookies Policy | Terms and Conditions. This site is hosted by Edinburgh University and the Genes to Cognition Programme.