Journal article

A Malignant Neoplasm From the Jejunum With a MALAT1-GLI1 Fusion and 26-Year Survival History

Owen William John Prall, Christopher Robert Edward McEvoy, David John Byrne, Amir Iravani, Judy Browning, David Yew-Huong Choong, Bhargavi Yellapu, Sophie O'Haire, Kortnye Smith, Stephen James Luen, Paul Leslie Ross Mitchell, Jayesh Desai, Stephen Bernard Fox, Andrew Fellowes, Huiling Xu

International Journal of Surgical Pathology | SAGE PUBLICATIONS INC | Published : 2020


The transcription factor GLI1 is a critical effector of the sonic hedgehog pathway. Gene fusions that activate GLI1 have recently been reported in several tumor types including gastroblastoma, plexiform fibromyxoma, a subset of pericytomas, and other soft tissue tumors. These tumors arise in a wide variety of anatomical origins and have variable malignant potentials, morphologies, and immunohistochemistry profiles. In this case report, we describe a malignant tumor from the jejunum with a MALAT1-GLI1 gene fusion that expressed a truncated constitutively active GLI1 protein and GLI1 targets that were detectable by immunohistochemistry. The tumor showed high-grade epithelioid and spindle cell ..

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Awarded by NHMRC

Funding Acknowledgements

The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: DNA sequencing was available via the iPredict study, through Melbourne Genomics Health Alliance, funded by the State Government of Victoria (Department of Health and Human Services) and the 10 member organizations of Melbourne Genomics in addition to Australian Genomics Health Alliance, funded by NHMRC Grant 1113531 and the Australian Government's Medical Research Future Fund.