School of Medicine, Western Sydney University, Sydney, Australia
Case Report
Unique Case Report of a Rare Form of Dedifferentiated Gastrointestinal Stromal Tumour
Author(s): Henna Xing*, D. Karikios and C. P'Ng
Background: A minority (4%-15%) of Gastrointestinal Stromal Tumours (GISTs) lack common gene mutations and undergo dedifferentiation, either de novo or following chronic imatinib treatment, exhibiting remarkable histological and immunophenotypic changes and possible heterologous differentiation. Given the lack of the usual immunophenotype and molecular signature, dedifferentiated GISTs represent a diagnostic challenge and potential pitfall with no concrete guidelines for its management and associated poor prognosis. In our patient’s case, molecular testing also detected a rare somatic TP53 mutation, making it an extremely rare form of an already rare tumour. Aim: To illustrate dedifferentiated GIST as a potential diagnostic pitfall and clinical challenge through the case of a 41-year-old, imatinib-naïve male who presented with upper gastrointestinal bleeding and was subsequ.. View More»