Dataset Information

Duodenal gastrointestinal stromal tumor: A case report

ABSTRACT:

Introduction

Gastrointestinal tumor (GIT) is an uncommon gastrointestinal tumor most commonly arising in the stomach. Duodenum is an uncommon site accounting for only about 3–5% of cases.

Case presentation

In this case report, we present a case of high-risk duodenal GIST and review its management strategies.

Discussion

An abdominal mass and gastrointestinal (GI) bleeding are its usual presentation, however it may be lost among the long list of differentials of an abdominal mass and GI bleeding, if a high index of suspicion is not maintained. Surgery, with or without tyrosine kinase inhibitors like imatinib mesylate, has been the cornerstone in management of GIST.

Conclusion

This case underlined the importance of duodenal GIST as a cause of GI bleed and abdominal mass as well as shone light upon historical developments, current updates and managements of GISTs. Highlights • Gastrointestinal tumor (GIT) is an uncommon gastrointestinal tumor most commonly arising in the stomach.• Duodenal GIST as a cause of GI bleed and abdominal mass.• Surgery, with or without tyrosine kinase inhibitors like imatinib mesylate, has been the cornerstone in management of GIST.• Here, we presented a rare case of duodenal GIST which should be considered a differential when considering etiologies for GI bleed.

SUBMITTER: Yadav S

PROVIDER: S-EPMC9577536 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature

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Project description:BackgroundGastrointestinal stromal tumor (GIST) is the most common primary mesenchymal neoplasm of the gastrointestinal tract. Mutations of KIT and platelet-derived growth factor receptor alpha have been well characterized in GISTs. Patients with KIT mutations are generally sensitive to treatment with tyrosine kinase inhibitors. However, some patients with GIST, while initially sensitive to TKIs, gain resistance in later stages of treatment. Heterologous rhabdomyomsarcomatous dedifferentiation of advanced GISTs after long-term imatinib mesylate (IM) therapy has been reported. In these cases, the underlying molecular mechanism of tumor progression and transformation is unclear.Case presentationWe report one such patient with rhabdomyosarcomatous dedifferentiation of a GIST without metastatic disease after brief 3-month therapy with IM. The tumor was composed of two distinct phenotypes, a CD117 negative region with rhabdomyosarcomatous differentiation directly adjacent to a CD117 positive classic GIST region. Molecular analysis identified the activating KIT exon 11 mutation in both regions, indicating a common origin for both phenotypes. Additionally, the dedifferentiated component contained two synonymous variants in platelet-derived growth factor receptor alpha and KIT. The increased number of synonymous variants in the rhabdomyosarcomatous region may reflect increased genetic instability of this tumor that may have resulted in the loss of CD117 expression in the dedifferentiated component.ConclusionThis study adds to the growing consensus that rhabdomyosarcomatous GIST progresses from a common GIST primary tumor. The role of IM in this progression is uncertain; however short duration of IM treatment in this study supports the hypothesis that rhabdomyosarcomatous GIST progression is not a consequence of IM therapy. Furthermore, we provide additional information supporting the observation that CD117 negative rhabdomyosarcomatous transformation maintains the activating KIT variant without KIT expression.