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Unusual presentation of gastrointestinal stromal tumor of stomach in neurofibromatosis type 1: a case report.

ABSTRACT: A 38-year-old woman with generalized neurofibromatosis was admitted to the emergency department with complaint of pain and nontender mass in epigastrium. She had been treated in another hospital as an intra-abdominal abscess and tube drain was seen to be coming out of the centre of the mass. Later investigations and surgery revealed a large exophytic tumor arising from the posterior wall of the stomach infiltrating the transverse colon. Resection of the involved stomach and middle third of the transverse colon was done. Histology examination proved to be leiomyosarcoma positive for CD117 and S-100. Gastrointestinal stromal tumors (GISTs) in neurofibromatosis type 1 (NF1) are multiple and commonly involve the small intestine. This is a rare case of GISTs in NF1 involving the stomach and presenting as an intra-abdominal abscess.

SUBMITTER: Swain SK

PROVIDER: S-EPMC3693257 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature

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Unusual presentation of gastrointestinal stromal tumor of stomach in neurofibromatosis type 1: a case report.

Swain Sudeepta K SK Smile Robinson R Arul Tirou T David Dipak D

The Indian journal of surgery 20120909 Suppl 1

A 38-year-old woman with generalized neurofibromatosis was admitted to the emergency department with complaint of pain and nontender mass in epigastrium. She had been treated in another hospital as an intra-abdominal abscess and tube drain was seen to be coming out of the centre of the mass. Later investigations and surgery revealed a large exophytic tumor arising from the posterior wall of the stomach infiltrating the transverse colon. Resection of the involved stomach and middle third of the t ...[more]

PMID: 24426628

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Project description:BackgroundMost of gastrointestinal stromal tumors (GISTs) are driven by mutations in the KIT/PDGFRA genes and can benefit from TKIs treatment. However, a small subset of GIST (10%-15%) are called "wild-type" GISTs due to the lack of these mutations. Theoretically, they would not benefit from TKIs treatment and may even develop resistance. Therefore, this unexpected response may challenge inherent perceptions. Herein, we present a case of giant wild-type GIST exhibiting an unexpected response to imatinib(IM), followed by laparoscopic surgical resection. Subsequently, potential underlying mechanisms are discussed.Case descriptionThis case describes a 57-year-old man who presented with abdominal pain for two weeks. CT revealed a massive lesion near the splenic hilum along the greater curvature of the stomach, concurrently involving the splenic hilar vessels and surrounding lymph nodes. Ultrasound-guided fine needle aspiration biopsy confirmed it is a mesenchymal spindle cell tumor,GIST. Due to the enormous volume and local invasion, neoadjuvant chemotherapy was initially considered. After 6 months of IM 400 mg/d, CT imaging revealed marked changes in tumor heterogeneity and a significant reduction in volume. Subsequently, laparoscopic surgical resection was performed. Postoperative pathological examination, immunohistochemistry, and genetic testing collectively confirmed it is a wild-type GIST.The patient recovered well and was discharged on the 6th day after surgery, with continued oral IM(400 mg/d) after discharge. No recurrence was observed during follow-up until the publication of this report.ConclusionThis unexpected response suggests that wild-type GISTs may benefit from TKIs treatment, and the potential mechanisms warrant further investigation. Additionally, true wild-type GIST may not be discerned due to current limitations of Next-Generation Sequencing(NGS). Therefore, for advanced/high-risk GIST, additional genetic analysis can be performed after negative NGS results.

Dataset Information

Unusual presentation of gastrointestinal stromal tumor of stomach in neurofibromatosis type 1: a case report.

Publications

Unusual presentation of gastrointestinal stromal tumor of stomach in neurofibromatosis type 1: a case report.

Similar Datasets

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