Atypical presentation of gastrointestinal stromal tumor masquerading as a large duodenal cyst: A case report.
ABSTRACT: 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.
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.
Project description:BACKGROUND:By comparing the long-term prognostic outcomes after pancreaticoduodenectomy (PD) and limited resection (LR), this study aimed to investigate the optimal surgical modality for duodenal gastrointestinal stromal tumors (GISTs). METHODS:Two authors independently searched PubMed, Web of Science, Embase, and the Cochrane Library for published articles comparing the long-term prognostic and clinicopathological factors of duodenal GIST patients undergoing PD versus LR. Relevant information was extracted and analyzed. RESULTS:After screening, 10 items comprising 623 cases were eventually included. This meta-analysis explicitly indicated that PD treatment was associated with worse long-term prognosis (hazard ratio?=?1.93; 95% confidence interval [CI], 1.39-2.69; p <?0.001; I2 =?0) and more complications (odds ratio [OR]?=?2.90; 95% CI, 1.90-4.42; p <?0.001; I2 =?10%) than LR treatment. Nevertheless, for duodenal GISTs, PD was related to the following clinicopathological features: invasion of the second part of the duodenum (OR?=?3.39; 95% CI, 1.69-6.79; p <?0.001; I2 =?50%), high-degree tumor mitosis (>?5/50 high-power fields; OR?=?2.24; 95% CI, 1.42-3.52; p <?0.001; I2 =?0), and high-risk classification (OR?=?3.17; 95% CI; 2.13-4.71; p <?0.001; I2 =?0). CONCLUSIONS:Since PD is associated with worse long-term prognosis and more complications, its safety and efficacy should be ascertained. Our findings recommend the use of LR to obtain negative incision margins when conditions permit it.
Project description:INTRODUCTION:Duodenal GISTs are rare mesenchymal tumors of the digestive tract. They usually present as gastrointestinal bleeding or non-specific abdominal pain, but they can also be asymptomatic. High-risk GISTs have malignant potential. Surgical resection is the only curative option and its extension depends on different factors. Tyrosine kinase inhibitors are of the utmost importance in high-risk and metastatic disease. CASE DESCRIPTION:We herein report the case of a 75-year-old male, referred to our general surgery outpatient clinic, with an asymptomatic duodenal mass incidentally diagnosed during an abdominopelvic ultrasonography. Abdominal CT suggested GIST. Since no other lesions were found, a segmental duodenectomy was performed and the patient recovery was uneventful. Histologic exam confirmed the presence of a high-risk GIST, therefore adjuvant therapy with imatinib was initiated. DISCUSSION:Duodenal involvement by GISTs is rare, even more in its third/fourth portions. The widespread clinical use of radiological exams such as ultrasonography may lead to the diagnosis of asymptomatic masses. Surgical treatment is the gold-standard giving the malignant potential of these neoplasms. There are risk stratification scores that may be used to assess the need for adjuvant therapy. CONCLUSION:Even large GISTs can by asymptomatic. Giving their malignant potential, early diagnosis and treatment are crucial. The histologic findings and genetic profile have an impact on the patient's survival.
Project description:Most gastrointestinal stromal tumors (GISTs) occur in the tubular gastrointestinal (GI) tract, but some present apparently outside the GI tract. In this study, we analyzed 112 GISTs located in the retroperitoneum. These tumors occurred in 55 women and 57 men with a median age of 65 years (range: 21 to 89 y). On the basis of clinically or histologically detected connections to GI tract, 15 tumors were considered likely of gastric, 9 duodenal, and 13 of small intestinal origin. The remaining cases were categorized by location as peripancreatic (n=25), pelvic (n=11), mesenteric (n=4), and of unspecified/miscellaneous sites (n=35). The tumors varied in size 3 to 35 cm (median, 15 cm) and by mitotic rate per 5 mm, 0 to >100 (median, 10). Histologically the tumors apparently arising outside the GI tract had features of intestinal (n=41) and gastric GISTs (n=25); 9 cases had indeterminate histology. The histologic variants included spindled, epithelioid, vacuolated, nested, and myxoid potentially simulating other tumors such as liposarcoma and solitary fibrous tumor. Most GISTs were KIT-positive (106/112 cases), and the remaining 6 tumors were DOG1/Ano1-positive. Five cases showed focal nuclear positivity for MDM2. KIT mutations were detected in 42/59 cases, and PDGFRA mutations in 4/16 KIT wild-type and 3/5 of the KIT-negative tumors analyzed. One pelvic retroperitoneal GIST was succinate dehydrogenase deficient. All 79 patients were dead at last follow-up with a median survival of 14 months, with few survivals >5 years. Only operable versus inoperable tumor was a statistically favorable factor in univariate analysis (P<0.01). In multivariate analysis, mitotic rate >50/5 mm was significant for a shorter survival (hazard ratio, 5.25; 95% confidence interval, 1.65-16.8; P<0.01). Histologic and clinicopathologic similarity of extragastrointestinal retroperitoneal GISTs with GISTs of GI tract suggests their GI tract origin. Potentially overlapping features between GIST and other retroperitoneal tumors necessitate use of multiple diagnostic markers and molecular genetic studies.
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.
Project description:To investigate the range of pathologies treated by pancreas preserving distal duodenectomy (PPDD) and present the outcome of follow-up.Neoplastic lesions of the duodenum are treated conventionally by pancreaticoduodenectomy. Lesions distal to the major papilla may be suitable for a pancreas-preserving distal duodenectomy, potentially reducing morbidity and mortality. We present our experience with this procedure. Selective intraoperative duodenoscopy assessed the relationship of the papilla to the lesion. After duodenal mobilisation and confirmation of the site of the lesion, the duodenum was transected distal to the papilla and beyond the duodenojejunal flexure and a side-to-side duodeno-jejunal anastomosis was formed. Patients were identified from a prospectively maintained database and outcomes determined from digital health records with a dataset including demographics, co-morbidities, mode of presentation, preoperative imaging and assessment, nutritional support needs, technical operative details, blood transfusion requirements, length of stay, pathology including lymph node yield and lymph node involvement, length of follow-up, complications and outcomes. Related published literature was also reviewed.Twenty-four patients had surgery with the intent of performing PPDD from 2003 to 2016. Nineteen underwent PPDD successfully. Two patients planned for PPDD proceeded to formal pancreaticoduodenectomy (PD) while three had unresectable disease. Median post-operative follow-up was 32 mo. Pathologies resected included duodenal adenocarcinoma (n = 6), adenomas (n = 5), gastrointestinal stromal tumours (n = 4) and lipoma, bleeding duodenal diverticulum, locally advanced colonic adenocarcinoma and extrinsic compression (n = 1 each). Median postoperative length of stay (LOS) was 8 d and morbidity was low [pain and nausea/vomiting (n = 2), anastomotic stricture (n = 1), pneumonia (n = 1), and overwhelming post-splenectomy sepsis (n = 1, asplenic patient)]. PPDD was associated with a significantly shorter LOS than a contemporaneous PD series [PPDD 8 (6-14) d vs PD 11 (10-16) d, median (IQR), P = 0.026]. The 30-d mortality was zero and 16 of 19 patients are alive to date. One patient died of recurrent duodenal adenocarcinoma 18 mo postoperatively and two died of unrelated disease (at 2 mo and at 8 years respectively).PPDD is a versatile operation that can provide definitive treatment for a range of duodenal pathologies including adenocarcinoma.
Project description:Duodenal duplication is a rare developmental abnormality which is usually diagnosed in infancy and childhood, but less frequently in adulthood. We report a case of a 16-year-old female with a duplication cyst in the third part of the duodenum. The patient presented with symptoms of gastric outlet obstruction, including severe anorexia and weight loss. The diagnosis was made preoperatively by CT scan and upper endoscopy. The cyst was successfully treated by marsupialization on the duodenum using a GIA stapler. Duodenal duplication presents with a wide variety of symptoms. Although illusive, many cases can be properly diagnosed preoperatively by using the appropriate imaging modalities. Treatment choices are tailored according to the size and location of the cyst, in addition to its relation to adjacent structures. The outcomes are favorable in the majority of patients.
Project description:Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. GISTs express the receptor tyrosine kinase KIT, and the majority of GISTs present KIT gain-of-function mutations that cluster in the 5' end of the receptor juxtamembrane domain. On the other hand, little information is known about GISTs carrying mutations in the 3' end of the KIT juxtamembrane domain. Here we report and discuss a clinical case of localized duodenal GIST whose molecular characterization revealed the presence of a new 21 nucleotide/7 amino acid deletion in the 3' end of KIT juxtamembrane domain (?574-580). The patient was treated with Imatinib at standard regimen dose (400 mg/day), and responded well as the original tumor mass reduced, ultimately allowing conservative surgery. In line with these clinical evidences computer simulations, biophysical techniques and in vitro experiments demonstrated that the receptor tyrosine kinase KIT carrying the ?574-580 mutation displays constitutive phosphorylation, which can be switched-off upon Imatinib treatment. In addition, results from this study showed that a clinical useful procedure, neoadjuvant treatment, can occasionally be of value for the understanding of the molecular pathogenesis of GIST.
Project description:GI stromal tumors (GISTs) are commonly associated with somatic mutations in KIT and PDGFRA. However, a subset arises from mutations in NF1, most commonly associated with neurofibromatosis type 1. We define the anatomic distribution of NF1 alterations in GIST.We describe the demographic/clinicopathologic features of 177 patients from two institutions whose GISTs underwent next-generation sequencing of ?315 cancer-related genes.We initially identified six (9.7%) of 62 GISTs with NF1 genomic alterations from the first cohort. Of these six patients, five (83.3%) had unifocal tumors at the duodenal-jejunal flexure (DJF). Two additional patients with DJF GISTs had non-NF1 (KIT and BRAF) genomic alterations. After excluding one DJF GIST with an NF1 single nucleotide polymorphism, four (57.1%) of seven sequenced DJF tumors demonstrated deleterious NF1 alterations, whereas only one (1.8%) of 55 sequenced non-DJF GISTs had a deleterious NF1 somatic mutation (P < .001). One patient with DJF GIST had a germline NF1 variant that was associated with incomplete penetrance of clinical neurofibromatosis type 1 features along with a somatic NF1 mutation. Of the five DJF GISTs with any NF1 alteration, three (60%) had KIT mutations, and three (60%) had Notch pathway mutations (NOTCH2, MAML2, CDC73). We validated these findings in a second cohort of 115 GISTs, where two (40%) of five unifocal NF1-mutated GISTs arose at the DJF, and one of these also had a Notch pathway mutation (EP300).Broad genomic profiling of adult GISTs has revealed that NF1 alterations are enriched in DJF GISTs. These tumors also may harbor concurrent activating KIT and/or inactivating Notch pathway mutations. In some cases, germline NF1 genetic testing may be appropriate for patients with DJF GISTs.
Project description:Gastrointestinal stromal tumors (GISTs) are the most common type of mesenchymal neoplasm of the gastrointestinal tract but consist of only 1% of all primary gastrointestinal neoplasms. Differentiated from other spindle cell tumors, GISTs are uniquely positive for CD117 expression which allows for molecular targeting therapy with imatinib mesylate (Gleevec). Clinical presentations are variable, ranging from asymptomatic to vague symptoms of abdominal pain, early satiety, abdominal distention or gastrointestinal bleeding. Very rarely, patients can present with tumor-bowel fistula and intra-abdominal abscesses. In this article, we discuss a rare presentation of a middle-aged male with multiple liver abscesses found to have a primary small bowel GIST. This patient received prompt intravenous antibiotics; however, hepatic abscesses can be easily misinterpreted as cystic hepatic metastases which can delay appropriate therapy. Streptococcus anginosus was found to be responsible for the formation of the liver abscesses visualized on computed tomography (CT) scan. Similar to Streptococcus bovis, knowledge in the literature is arising about the association between S. anginosus and gastrointestinal malignancies. This case highlights the importance of identifying concomitant primary GISTs with intra-hepatic abscesses, as these lesions can be easily misconstrued as liver metastases and consequently mismanaged. We herein emphasize that hepatic abscesses are a potential sequela of GISTs and should thus prompt further investigation for potential malignancies, if warranted, so that there is no delay in treatment of these gastrointestinal tumors.