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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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Unusual bilateral ovarian metastases from ileal gastrointestinal stromal tumor (GIST): a case report.

Project description:Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract and liver and peritoneum are the main sites of recurrence. Ovarian metastases from GIST are very rare.A 50 years-old woman was found to have a pelvic mass on transvaginal ultrasound (TV-US) and computed tomography (CT)-scan, considered as a right ovarian mass. The patient underwent surgical abdominal exploration that showed an ileal mass, a normal right ovary and an irregular and vascularized surface of the left ovary. A segmental ileal resection and an ileal anastomosis were performed. Frozen section showed a GIST and surgery was completed with hysterectomy, bilateral salpingo-oophorectomy, pelvic peritonectomy, peritoneal washing and Burch procedure. The histological examination confirmed an ileal GIST with ovarian metastases, harboring in both sites of disease a KIT exon 11 deletion.Ovarian localizations, as far as rare, can be a clinical finding in case of ileal GIST patients, and both gynecologists, pathologists and medical oncologists should be able to recognize them.

| S-EPMC5857138 | biostudies-other

Atypical presentation of gastrointestinal stromal tumours-a case report.

Project description:Gastrointestinal stromal tumors (GISTs) are benign mesenchymal tumors of the gastrointestinal tract (GIT). Their clinical presentations are variable. We report a case of a 31-year-old man who presented with pain in the abdomen and vomiting. CT abdomen revealed a large exophytic mass in the epigastrium with enhancement pattern similar to hemangioma. No relationship of the mass could be made out with the adjacent structures on CT, histopathology proved it to be a GIST.

| S-EPMC3693384 | biostudies-other

Case report: Neurofibromatosis type 1 gastrointestinal stromal tumor and small bowel adenocarcinoma with a novel germline <i>NF1</i> frameshift mutation.

Project description:A synchronous case of small bowel adenocarcinoma(SAB) is reported, accompanied with gastrointestinal stromal tumor(GIST),and gangliocytomain in an elderly woman with neurofibromatosis type 1 (NF-1). A 67-year-old female was hospitalized with the chief complaint of abdominal pain, the computed tomography scan indicated a large bowel mass. Multiple tumors were found in the small intestine, through which two larger tumors (7 cm and 1.5 cm) were resected. A novel germline NF1 mutation and a PMS2 mutation were identified after genetic testing, followed by the exploration of possible relationship between them in promoting tumorigenesis. Our results suggest multiple gastrointestinal tumors emerging in NF1 patients, and genetic testing can better guide postoperative treatment in a more efficient way.

| S-EPMC9815498 | biostudies-literature

Atypical presentation of gastrointestinal stromal tumor masquerading as a large duodenal cyst: A case report.

Project description:INTRODUCTION: Gastrointestinal stromal tumors (GIST) are solid tumors. A duodenal GIST masquerading as a cystic lesion has never been reported. We report a large duodenal cyst that finally turned out to be a GIST and was managed without a pancreaticoduodenectomy (PD). PRESENTATION OF CASE: A 55 year old lady presented with painful lump in epigastrium. A CT scan revealed a large exophytic cystic lesion from the duodenum with a small solid component. An endoscopy showed a polypoid lesion in the second part of the duodenum adjacent to what looked like a diverticulum. A sleeve duodenal resection, duodeno-duodenostomy and pyloric exclusion was done. The histopathology was duodenal GIST. DISCUSSION: This case posed diagnostic difficulty as it was thought to be either a duplication cyst or a diverticulum of duodenum. The odd point was the small solid component in it. We considered the possibility of a malignancy arising in these settings, which is has been occasionally reported. To our surprise, it turned out to be a GIST. An extensive literature search yielded only four reports that have reported cystic GISTS, all arising from the stomach or pancreas where they have been mistaken for pseudocysts or even a mucinous cystadenocarcinoma of the pancreas. This is the first report of a cystic GIST arising from the duodenum. CONCLUSION: GISTS can present as a predominantly cystic lesion and needs to be considered in the differential diagnosis of cystic lesions of the duodenum. Local resection is an attractive option in select cases and avoids a PD.

| S-EPMC4392365 | biostudies-other

A concealed inguinal presentation of a gastrointestinal stromal tumor (GIST): a case report and literature review.

Project description:BackgroundGastrointestinal stromal tumor (GIST) can arise anyplace along the gastrointestinal (GI) tract. The uncommon tumor location in groin area is rarely reported.Case presentationWe herein reported a metastasized case presented as GI hemorrhage complicated with indirect hernia, and underwent tumor cytoreduction, herniorrhaphy and chemotherapy for jejunal GIST. The case was described consecutively based on the process of surgical management, with a good follow-up result. A literature review by searching similar case reports from two national medical databases was performed to summarize clinical features of such unusual presentation of GIST, which included hernia characteristics, short- and long-term outcomes of this disease. It showed GIST presenting as groin hernia was rarely reported and all available 11 cases suggested a primary tumor and required both tumor resection and hernia repair. The long-term results indicated 64.3% overall survival at 5 years after the incidental diagnosis.ConclusionsInguinal hernia is an extremely rare presentation of GIST, with limited case reports available in the literature. A radical involving tumor resection plus hernia repair is an optimal surgical approach for such uncommon condition. An adjuvant medication mounting on mutated KIT gene should be strictly followed for high risk cases.

| S-EPMC7931599 | biostudies-literature

Gastrointestinal stromal tumor of the excluded stomach after Roux-en-Y gastric bypass: A case report and literature review.

Project description:BACKGROUND:Gastric cancer is an extremely rare condition to occur after bariatric surgery, and most of the reported cases are adenocarcinomas. Regarding gastrointestinal stromal tumors (GISTs), there are only two reported cases occurring after bariatric surgery (one after gastric banding and the other following Roux-en-Y gastric bypass (RYGB)). CASE PRESENTATION:A 48-year-old woman with previous history of obesity and type 2 diabetes, treated with a Roux-en-Y gastric bypass 2 years earlier, was referred to our center due to complains of diffuse abdominal pain and distension associated with asthenia. Magnetic resonance imaging showed a cystic-solid mass located in the right hypochondrium, measuring 19.5 × 13.5 × 16 cm, suggesting the diagnosis of a retroperitoneal tumor. Based on these findings, a laparotomy, evidencing that the larger cystic-solid tumor was originating from the excluded stomach post-RYGB. The gastrectomy of the excluded stomach was performed aside with a conventional cholecystectomy. Histopathology and immunohistochemistry confirmed to be a gastric GIST with epithelioid cells. Currently, 12 months after surgery, the patient presents no signs of recurrence. CONCLUSION:This is the second case of gastric GIST occurring after RYGB to be reported in the literature.

| S-EPMC7481502 | biostudies-literature

A Foregut Duplication Cyst of the Stomach in Association with a Gastrointestinal Stromal Tumor and a Leiomyoma: A Case Report.

Project description:Objectives. Duplication cysts are rare benign lesions usually arising in the gastrointestinal tract. We report a case of a 52-year-old woman with an incidental gastric mass found on computed tomography during a pregraft workup for a familial cardiomyopathy. Methods. The mass was completely excised by partial gastrectomy and gross examination revealed a cystic lesion containing two small solid nodules in its wall. Microscopic evaluation and immunohistochemistry study were performed to further characterize the cyst and the nodules. A comprehensive literature review of the NCBI database PubMed was also carried out. Results. While the cyst was diagnosed as a foregut duplication cyst, the solid nodules proved to be concomitant gastrointestinal stromal tumor (GIST) and leiomyoma. Both morphologic features and immunohistochemistry stains, including CD117, smooth muscle actin, and CD34 supported the diagnosis. Clinical course was benign and the patient had no clinical evidence of relapse ten months following the surgical procedure. The literature search did not reveal any other published case of a foregut duplication cyst presenting in combination with a GIST and a leiomyoma. Conclusions. To our knowledge, this is the first case of a composite lesion comprising a foregut duplication cyst of the stomach along with a leiomyoma and a GIST.

| S-EPMC5209591 | biostudies-literature

Retroperitoneal gastrointestinal stromal tumor: A case report and literature review.

Project description:Retroperitoneal gastrointestinal tumor is the rarest subtype among 3 subtypes of extragastrointestinal tumors, which are uncommon stromal tumors. We herein report a case of a 55-year-old man with retroperitoneal gastrointestinal tumor detected by magnetic resonance imaging and confirmed by postoperative histology and immunohistochemistry.

| S-EPMC7415774 | biostudies-literature

Orbital metastasis from a gastrointestinal stromal tumor: A case report.

Project description:BackgroundGastrointestinal stromal tumor (GIST) is the most common primary mesenchymal tumor. The most common metastasis sites are the liver and the surface of the peritoneum. In this study, we present a case of orbital GIST metastasis.Case presentationA 43-year-old woman who had a history of small intestinal stromal tumor 4 years ago suffered GIST metastasis to the left orbit. MRI confirmed the presence of a lacrimal gland lesion with isointense on T1 and hyperintense on T2 weighted images. Histopathology analysis of the tumor showed predominantly spindle or oval cells with nuclear pleomorphism and increased mitoses. The tumor also stained positive for c-KIT (CD117) upon immunochemistry, confirming the diagnosis.ConclusionsGISTs typically occur as sporadic solitary tumors, and their common metastasis sites are the liver and the surface of the peritoneum. Orbital involvement is extremely rare. The orbital GIST metastatic tumor has special imaging properties, as evidenced by histopathology, immunochemistry, and magnetic resonance imaging (MRI).

| S-EPMC6699248 | biostudies-literature

Multiple heterochronic gastrointestinal stromal tumors in the stomach detected 6?years after resection: a case report.

Project description:BACKGROUND:To date, only a few cases of multiple GISTs with different clones in different organs have been published. However, a case of multiple GISTs with different clones occurring in a single organ has never been reported. CASE PRESENTATION:A 41-year-old patient underwent laparoscopic partial gastrectomy for gastric gastrointestinal stromal tumor (GIST) in 2012. The pathological findings showed high-risk characteristics for recurrence, so he received adjuvant therapy with imatinib for 3 years. In 2018, 3 years after completing the adjuvant therapy, tumor lesions at residual gastric cardia were incidentally identified by follow-up computed tomography (CT). The pathological findings of the tumor biopsy revealed gastric GIST. He underwent secondary laparoscopic partial gastrectomy and was diagnosed with high-risk GIST. Adjuvant therapy with imatinib was restarted immediately. The two gastric GISTs had the same exon 11 mutations in the c-kit gene, but they had different missense mutations. This molecular heterogeneity suggested that they were derived from different origins. CONCLUSION:We reported a multiple heterochronic GIST in the stomach detected 6?years after resection. There may be a possibility that another heterochronic GIST will occur in the remnant stomach in the future, so close follow-up will be needed.

| S-EPMC7060937 | biostudies-literature

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