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Title: A malignant neoplasm from the jejunum with a MALAT1-GLI1 Fusion and 26-year survival history.
Epworth Authors: Yellapu, Bhargavi
Other Authors: Prall, Owen
McEvoy, Christopher
Byrne, David
Iravani, Amir
Browning, Judy
Yew, David
O'Haire, Sophie
Smith, Kortnye
Luen, Stephen
Mitchell, Paul
Desai, Jayesh
Fox, Stephen
Fellowes, Andrew
Xu, Huiling
Keywords: Malignant Neoplasm
MALAT1-GLI1 Fusion
Gene Fusion
Transcription Factor
Sonic Hedgehog Pathway
High-Grade Epitheloid
Spindle-Cell Morphology
Neuroendocrine Markers
Metastatic Tumor
Epworth Centre for Immunotherapies and Snowdome Laboratories
Molecular Oncology and Cancer Immunology
Cancer Services Clinical Institute, Epworth HealthCare, Victoria, Australia
Issue Date: Nov-2019
Publisher: International Journal of Surgical Pathology
Citation: Int J Surg Pathol. 2020 Aug;28(5):553-562.
Abstract: 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 morphology, strongly expressed CD56, and focally expressed other neuroendocrine markers and cytokeratins, but not S100 protein or SMA. The tumor recurred multiple times in liver, soft tissue, and lung over the course of 26 years, the longest reported follow-up for a GLI1 fusion-associated tumor. These metastatic tumors were also composed of epithelioid and spindle cells, but showed lower morphological grade than the primary tumor. The metastatic tumors resembled the recently reported "malignant epithelioid neoplasms with GLI1 rearrangements." The tumor also had a relatively high tumor mutation burden for a sarcoma. This case report expands the sites of origin for GLI1 rearranged neoplasms and shows that despite being associated with high-grade morphology, these malignancies can be associated with very long-term survival.
DOI: 10.1177/1066896919900548
PubMed URL:
ISSN: 1066-8969
Journal Title: SAGE Journal
Type: Journal Article
Affiliated Organisations: Peter MacCallum Cancer Centre, Melbourne, Victoria 3000, Australia.
Olivia Newton-John Cancer Wellness and Research Centre, Austin Health, Heidelberg, Victoria, Australia.
Type of Clinical Study or Trial: Clinical Trial
Appears in Collections:Cancer Services

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