What question did this study set out to answer?

To describe a rare gastrointestinal soft tissue neoplasm associated with PTCH1::GLI1 fusion.

February 22, 2026Pathology0 citations

A gastrointestinal soft tissue tumour with PTCH1::GLI1 fusion

IDIlona DowavicRoyal Prince Alfred Hospital ACAndrew J. ColebatchThe University of Sydney PDPranav DorwalMonash Medical Centre

Key Points

To describe a rare gastrointestinal soft tissue neoplasm associated with PTCH1::GLI1 fusion.
Case report of an identified gastrointestinal soft tissue tumour.
Clinical evaluation of the neoplasm and associated characteristics.
Identified a rare case of a soft tissue neoplasm with PTCH1::GLI1 fusion.
The tumour type poses challenges in understanding treatment options.

Abstract

GLI1-activated tumours constitute a distinct subclass of soft tissue neoplasm. Due to their rarity, the clinical course and treatment options for these neoplasms are not well understood.

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