Gastrointestinal Stromal Tumor Presenting Research Articles

A BIZARRE CASE OF GIANT JEJUNAL GIST PRESENTING AS A MALE ABDOMINOPELVIC MASS - CASE REPORT

Gastrointestinal stromal tumours(GISTs) are uncommon neoplasms, with 31.8% occurring in small bowel, and jejunal GIST being the rarest subtype among all types of GISTs, accounting for 0.1%–3% of all GIT tumours. GIST presenting as a palpable abdominopelvic mass, as is being described in this case report, is exceedingly rare and only 25 such cases have been previously reported in the world literature, with a higher female preponderance. Since this patient had a Giant GIST which was locally-advanced, it can be effectively treated with Imatinib for 3-6 months followed by surgery and adjuvant therapy, thereby improving disease-free survival.

Factors affecting clinical outcomes in women with non-gastric gastrointestinal stromal tumors

ObjectiveThe clinical presentation of non-gastric GISTs might mimic adnexal cancer, and non-gastric GIST might be managed and treated by gynecologists. Knowledge of the clinical outcomes of women with non-gastric gastrointestinal stromal tumors (GISTs) is important. Our aim is to elucidate the factors affecting the clinical outcomes of women with non-gastric GISTs. Materials and methodsBetween January 2000 and October 2019, all consecutive women with non-gastric GISTs who underwent surgery in a tertiary referral center were reviewed. ResultsTwenty-six women were reviewed. Eight (31%) women experienced recurrence. The probabilities of recurrence-free survival (RFS) at 60 and 120 months were 65.2% and 55.9%, respectively. The probabilities of overall survival (OS) at 60 and 120 months were 71.1% and 63.9%, respectively. Cancer stage was the only independent predictor of RFS (hazard ratio = 6.00, p = 0.007) and OS (hazard ratio = 3.88, p = 0.04). However, excluding cancer stage, metastasis (hazard ratio = 8.74) was the only independent predictor of RFS, and tumor size (hazard ratio = 1.20) and metastasis (hazard ratio = 6.03) were independent predictors of OS. Tumor size ≥13.9 cm was the optimum cut-off value to predict death and had an area under the receiver operating characteristic curve of 0.75 (95% confidence interval = 0.53 to 0.98). Among the above 5 women with non-gastric GISTs admitted to the Gynecology Department, optimal debulking surgery was performed in two women, and small bowel resection was performed in three women; and all five women remained alive without disease. ConclusionNon-gastric GISTs may mimic gynecologic tumors. Metastasis was an independent predictor of PFS. In addition, metastasis and large tumor size (especially ≥13.9 cm) were independent predictors of OS in women with non-gastric GISTs.

Spontaneous hemoperitoneum as a rare presentation of gastric lesions: Two case reports

IntroductionSpontaneous hemoperitoneum is a rare but life-threatening condition. Clinical presentation is usually nonspecific. The aim of this report is to document a rare clinical presentation of two different intramural stomach tumors.Clinical casesA 40-year-old patient with 24 h epigastric pain was admitted to the emergency, pale, with signs of peritoneal irritation. Computed tomography showed an hemoperitoneum with active bleeding in the posterior wall of the stomach. A wedge resection was performed. Histological report revealed a plexiform fibromyxoma (PF). The second case presents a 79-year-old patient with 24 h abdominal pain, fullness and dizziness, pale and with signs of peritoneal irritation. A voluminous exophytic lesion on gastric wall with active bleeding was diagnosed. Wedge resection was performed and histological report demonstrated a gastrointestinal stromal tumor (GIST).DiscussionImaging plays a role in the diagnosis of spontaneous hemoperitoneum, in elucidating a cause and detecting active hemorrhage. Tumor hemorrhage may be the first presentation of an underlying mass. The presence of a bleeding gastric mass of uncertain nature may result in a challenging situation for the surgeon, who is forced to perform a gastric resection without knowing the exact nature of the tumor and hence the extent of gastric resection required. To our knowledge, our case is the first of PF presenting as hemoperitoneum. Hemoperitoneum is rare as first presentation of GIST, with few cases reported in literature.ConclusionWe report two extremely rare cases of spontaneous hemoperitoneum as first presentation of gastric tumor. For the diagnosis a high level of suspicion is required.

A rare presentation of gastrointestinal stromal tumor arising from a meckel's diverticulum: A case report

The most common congenital gastrointestinal tract abnormality is Meckel's diverticulum, affecting 1% to 2% of the population. Meckel's diverticulum can sometimes house a gastrointestinal stromal tumor (GIST), which is a rare malignant tumor. A 63-year-old man presented with occult melena. It turns out to be a GIST developing from Meckel's diverticulum after an exploratory laparotomy. Occult melena is one of the causes of unexplained and intractable anemia. Every family and general physician should keep in mind the possibility of occult blood loss via the gastrointestinal tract when treating the patient.

A Case Report of a Bleeding Duodenal Gastro-Intestinal Stromal Tumor and its Emergent Management

A gastrointestinal stromal tumor (GIST) arising in the duodenum is a rare subtype of mesenchymal tumor. GISTs have a reported incidence of 11.9–19.6 per million population and duodenal GISTs make up just 5% of these tumors. Common presentation of duodenal GISTs is through an upper gastrointestinal bleed, of which, they are responsible for less than 1% of all gastrointestinal bleeding. In an elective setting, surgical management remains the mainstay of treatment. In this Case Report, the emergent management of a localized duodenal resection was performed by an acute care surgeon, in an unstable patient. The risk factors for malignancy include tumor size and a high mitotic cell index. Tumor recurrence is determined by tumor size, tumor rupture, high mitotic cell index, a non-gastric location and gastrointestinal bleeding.

S3134 A Gastrointestinal Stromal Tumor Presenting as Hemorrhagic Ascites

S3134 A Gastrointestinal Stromal Tumor Presenting as Hemorrhagic Ascites

A rare presentation of gastric gastro-intestinal stromal tumour managed by stomach preserving surgery: a case report

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the alimentary canal that account for 0.1–3% of all gastrointestinal malignancies. Vast majority of these tumors have oncogenic gain-of-function mutations of the KIT receptor tyrosine kinase. The mainstay of treatment is complete surgical resection followed by adjuvant therapy with tyrosine kinase inhibitors (Imatinib). We present a case report of 47 years old male presenting with a large abdominal lump, later diagnosed as a Gastrointestinal stromal tumor and underwent stomach preserving sleeve gastrectomy.

Gastrointestinal stromal tumor presenting with spontaneous tumor rupture and intratumoral hemorrhage: A rare encounter

Gastrointestinal stromal tumors (GISTs) are typically benign tumors that most commonly occur along the GI tract. Most commonly, patients with these tumors present with GI bleeding, which may present as an acute bleed with melena or hematochezia. GISTs presenting with spontaneous tumor rupture and intratumoral hemorrhage leading to hemoperitoneum is an uncommon complication. We report an atypical presentation of a GIST presenting with tumor rupture and intratumoral hemorrhage in an 81-year-old gentleman, who presented with heaviness in the left side of the upper abdomen for the past 3 weeks associated with anorexia and fullness after meals. On clinical examination, an intra-abdominal intraperitoneal mobile lump was palpable in the left upper quadrant approximately 7.5 cm in diameter, firm in consistency, moving with respiration which spontaneously ruptured 2 days before the planned elective operation. Emergency exploratory laparotomy with wide local excision had to be undertaken.

An unusual presentation of pediatric gastrointestinal stromal tumor arising from stomach

Gastrointestinal stromal tumors (GIST) are extremely rare in the pediatric population and, as a result, many clinicians may never encounter this diagnosis in children during their practice. Contrary to the usual clinical presentation of pediatric GIST as painless GI bleeding, we report here a case of a young girl with GIST whose main clinical presentation was a large cystic abdominal mass.

Gastrointestinal Stromal Tumor Mimicking an Adrenal Incidentaloma: A Case Report

Abstract Background: The differential diagnosis of adrenal incidentalomas is broad and includes benign or malignant primary adrenal lesions, metastases, myelolipomas, infections or hemorrhage. We present here a patient with a gastrointestinal stromal tumor (GIST) presenting as an adrenal incidentaloma. Clinical Case: A 64-year-old man was referred to Endocrinology for the work-up of a left adrenal incidentaloma discovered on an abdominal CT scan performed for left upper quadrant abdominal pain. His past medical history included well-controlled type 2 diabetes and hypertension. On subsequent imaging, the mass was described as a solid homogenous nodule with a density of 31 HU and an absolute contrast washout of 22%. Between 2017 and 2020, the mass’ size increased from 14 x 13 to 24 x 19 millimeters. Further functional imaging revealed no 131I-MIBG uptake but moderate hypermetabolism on FDG PET-CT with a SUVmax of 4.5. There was discordance regarding the mass’ localization between the various imaging modalities used preoperatively: some showed a left adrenal lesion whereas others suggested that it was adjacent to, but distinct from, the adrenal gland. Biochemical workup included normal 1-mg dexamethasone suppression test, serum potassium levels, 24-hour urine fractionated catecholamines, as well as plasma free metanephrines and normetanephrines. Chromogranin A levels were also normal. In light of these findings, laparoscopic tumor resection, with or without left adrenalectomy, was scheduled. During surgery, it was discovered that the tumor was intraperitoneal, located next to the splenic hilum and originating from the greater curvature of the stomach; a partial gastrectomy was therefore performed, without left adrenalectomy. Pathological evaluation revealed that the mass was a small spindle cell-type GIST. Genetic analysis of the tumoral DNA showed a somatic mutation in exon 11 of the KIT gene (c.1658_1669del, p.Tyr553_Gln556del). Conclusion: We report a rare case of gastric GIST initially mimicking a left adrenal incidentaloma. Localization of GISTs in the adrenal area is rare, with very few cases reported to date in the literature. Unlike other cases described previously, our patient underwent the right procedure thanks to adequate tumor localization during surgery. However, as some patients have experienced unnecessary adrenalectomy for similar clinical presentations, gastric GISTs should be kept in mind in the differential diagnosis of non-functional atypical adrenal masses, especially in the presence of suspicious PET scan imaging.

Jejunal GIST masquerading as an ovarian mass: A case report.

Introduction and importanceGastrointestinal stromal tumors (GIST) are rare mesenchymal tumors originating in the wall of the gastrointestinal tract. Jejunal GIST is the rarest subtype. Large GIST can present with an abdominopelvic mass which can be preoperatively misdiagnosed as a gynecological tumor.Case historyA 44-year regularly menstruating woman presented with lower abdominal pain which was diagnosed as a malignant ovarian tumor preoperatively with an MRI. However, intraoperatively, a lobulated mass was present in the abdominal cavity arising from a jejunal portion of the small intestine. With an intraoperative diagnosis of jejunal GIST, the mass was excised and jejunum anastomosed. Histopathology examination report showed GIST which was further confirmed by immunohistochemistry.DiscussionGIST presenting as a large abdominopelvic mass can mimic a gynecological tumor. Contrast-enhanced CT scan is the preferred imaging modality for the evaluation of patients with suspected GIST to determine the extent of the tumor, the presence or absence of metastatic disease alongside evaluation of the possibility of complete resection. Adjuvant imatinib therapy following complete excision can decrease the disease recurrence.ConclusionGynecologists should keep in mind that primary gastrointestinal tumors can present as a pelvic mass. A proper histopathological examination helps to confirm the diagnosis. Complete surgical removal of the tumor should be obtained as it determines the prognosis of the disease.

Endoscopic spectrum and practical classification of small bowel gastrointestinal stromal tumors (GISTs) detected during double-balloon enteroscopy.

Background and study aims Information about the endoscopic characterization of small bowel gastrointestinal tumors (GISTs) is limited. The aim of this case study was to describe the endoscopic spectrum of small bowel GISTs and to present a practical classification. Patients and methods Observational, retrospective, consecutive case series of patients with small bowel GIST. Results A total of 10 small bowel GISTs were found in patients (6 male, 4 female, mean age 52 years, range 28 to 68).). All patients presented with obscure gastrointestinal bleeding (overt, n = 8, occult, n = 2). Most GISTs were present in the proximal or middle small bowel (n = 7). The endoscopic tumor characteristics could be categorized as follows: submucosal round (n = 4), submucosal sessile (n = 2), and invasive/penetrating) (n = 4). The mucosa overlying the tumor was normal (n = 4), grooved (n = 3) or frankly ulcerated (n = 3). Tumor size ranged from 8 mm to 50 mm. Biopsy was negative in all patients with normal mucosa but showed tumor in all patients with ulcerations. Regardless of biopsy results, all patients were sent for surgery. Nine resections were carried out. One patient refused surgery. There were no complications of endoscopy in this cohort. Conclusion Our series shows that GISTs have a wider spectrum of endoscopic characteristics than previously described. The round type with normal overlying mucosa was equally prevalent as the grooved or ulcerated variant. Endoscopists should be aware of this wide spectrum of presentation of small bowel GIST.

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

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.

Co-Incidence of Paraesophageal Hernia and Perforated Gastrointestinal Stromal Tumor: A Case Report on Rare Presentation of GIST

Introduction: The most common connective tissue neoplasm of the gastrointestinal tract is gastrointestinal stromal tumors (GISTs). Its presentations are usually abdominal pain and gastrointestinal bleeding. Case Presentation: We report a 31-year-old man with abdominal pain presented to our hospital with 10 days history of abdominal pain. After radiologic investigations, total distended stomach paraesophageal hernia and antral deformity were seen in the CT scan. Subsequently, the patient underwent surgery and after releasing the stomach, a large sealed perforated mass was seen in the antrum near the diaphragmatic hiatus and small localized abscess that subtotal gastrectomy and hernia repair was done. Pathologic examination revealed that the perforated mass is a GIST. Conclusions: We report a rare complication of gist that is perforation and the first report of simultaneous paraesophageal hernia and perforated gist.

A rare and overlooked cause of massive gastrointestinal bleeding: Distal duodenal GIST

Introduction. Gastrointestinal stromal tumors (GIST) are tumors of mesenchymal origin which originate from the walls of gastrointestinal system (GIS) organs. Aim. In this case report we aim to discuss the clinical, labaratory and radiological presentation of distal duodenal GIST as a rare and overlooked cause of life-threatining GIS bleeding. Description of the case. A 76-year-old male patient was presented to the emergency department with massive gastrointestinal bleeding. Computerized tomography revealed a mass soft tissue density of 4x4cm at the level of the 3-4th segment of the duodenum. At the endoscopy, there was a deep ulcer in the proximal part of the 3rd segment of the duodenum with a diameter of 2 cm with a bleeding vessel protruding into the lumen. After endoscopic treatments, biopsies were taken from the edges of the ulcer. Histopathological examination revealed a sheet-like infiltration composed of mildly pleomorphic cells with oval-spindle nuclei and abundant eosinophilic cytoplasm in the duodenal lamina propria, as the patient was diagnosed of GIST. Conclusion. GIST and its clinical, labaratory and radiological presentation should be kept in mind in the approach to massive duodenal GIS bleeding.

S2117 The GIST of It: A Rare Presentation of Neurofibromatosis Type I

INTRODUCTION: Neurofibromatosis Type 1 (NF1) is an autosomal-dominant disease with an incidence of 1 in 2500–3000 individuals. NF1 confers up to a four-fold increase in overall malignancy risk compared to the general population, and patients are 34 times more likely to develop gastrointestinal stromal tumors (GIST). GIST are rare mesenchymal tumors involving the gastrointestinal tract (GI) and their increased incidence has been associated with the history of NF-1. We present a case of a patient with NF-1 associated with an unusual presentation of GIST. CASE DESCRIPTION/METHODS: 42 years old female with past medical history of NF-1 initially presented to the ED for maroon-colored stools for 2 days. She endorsed infrequent use of ibuprofen with last use being 3 months ago. Initial physical exam was significant for mild hypotension responding to fluid resuscitation, and rectal exam negative for blood. The hemoglobin in the ER was 7.9 g/dL (baseline 11.3 g/dL) with an elevation of BUN: Creatinine ratio (24 mg/dL, 0.65 mg/dL). An EGD was performed which demonstrated mild duodenitis. An ileocolonoscopy was performed and blood clots were in the entire colon including the terminal ileum. No source of active bleeding in the colon seen after extensive suctioning done. The patient underwent a video capsule endoscopy (VCE) and an abdominal CT with contrast. VCE demonstrated a endophytic mass with active bleeding. CT revealed numerous exophytic and endophytic masses with the largest mass at the anterior wall of the ileum measuring 2.4 cm × 2.2 cm, which was noted to have a brisk active arterial bleeding. Surgery was consulted and she underwent emergent exploratory laparotomy with surgical resection of the ileal segment containing the actively bleeding mass. Histopathologic staining was positive for receptor tyrosine kinase (C-KIT) and DOG-1, consistent with GIST. Patient was initiated on imatinib therapy and has remained symptom free. DISCUSSION: Our novel case describes life-threatening GI bleeding from GIST in a patient with NF-1. GISTs are 34 times more common in patients with NF-1. In NF-1 patients presenting with GI bleeding, Small bowel GISTs should be considered as a differential and clinicians must have a low threshold for obtaining abdominal imaging by CT, VCE or nuclear imaging in case endoscopy does not detect the source of GI bleeding. Emergent surgery stands alone as a curative form of therapy for actively bleeding GISTs in patients with NF-1.Figure 1.: CT Abdomen with IV contrast : A lobulated endophytic avidly enhancing mass is identified in the Ileum, which measures approximately 2.4 × 2.2 cm. This lesion demonstrates brisk active arterial bleeding into the intestinal lumen.Figure 2.: CT abdomen with IV contrast: There is a round partially exophytic avidly enhancing mass measuring approximately 1.6 × 1.5 cm in the 4th portion of the duodenum, favored to represent a GIST. This lesion is without evidence of active bleeding on the current exam.Figure 3.: Capsule endoscopy – Brisk active bleeding lesion noted on the capsule endoscopy.

Synchronous presentation of gastrointestinal stromal tumor of stomach and neuroendocrine tumor of Jejunum as acute intestinal obstruction

Neuroendocrine tumors (NETs) arise from the diffuse components of the endocrine system A patient with jejunoileal NETs usually presents with vague abdominal complains which may progress to intestinal ob-struction. Gastrointestinal stromal tumors (GIST) are mesenchymal tumors arising from interstitial cell of Cajal or pacemaker cells. GIST is the most common mesenchymal tumor of the abdomen. We are here by reporting a rare synchronous tumor for awareness and better management of patents. Keywords: Synchronous, Gastrointestinal tumors, stomach, Jejunum, NETs.

Jejunal gastrointestinal stromal tumors masquerading as an appendicular mass: an unusual presentation

Gastrointestinal stromal tumors (GISTs) are a rare variety of tumors of mesenchymal origin found in the gastrointestinal (GI) tract forming about 1% of all GI tumors. These originate from the interstitial cells of Cajal. Small bowel GISTs have been shown to present as obscure GI bleeding, obstruction and perforation in literature. We report a 57 years old female patient presenting with pain abdomen, fever and vomiting and palpable right iliac fossa (RIF) mass diagnosed as an appendicular mass and managed conservatively. She was planned interval appendicectomy and was discovered to have a jejunal GIST at laparotomy treated with resection and anastomosis. There are case reports of small bowel GISTs presenting as sources of obscure or overt GI bleeding and luminal or extra luminal mass causing small bowel obstruction. Surgery is mainstay of treatment with imatinib for adjuvant or neoadjuvant therapy. This case highlights an unusual presentation of a jejunal GIST with a sealed off perforation mimicking an appendicular mass in the RIF treated by surgical resection followed by adjuvant Imatinib therapy. GIST being an uncommon tumor with varied presentations can lead to misdiagnosis and delays in treatment. This differential should be kept in mind while evaluating small bowel pathologies to aid a timely diagnosis.

Gastric Schwannomas Misdiagnosed as GIST: A Comparative Study of Clinic Strategies Based on Membrane Marker Detection

Gastric schwannomas are one of the rarest gastric tumors originating from the nerve plexus of the gut wall. Because most of these tumors dont have any specific symptom and the majority of gastric mesenchymal tumors are gastrointestinal stromal tumors (GISTs), many are therefore misdiagnosed as GISTs. In addition, gastric schwannoma is the benign and slow-growing lesion in the stomach, but GISTs had poor outcomes due to lack of response to nonsurgical interventions. In our study, we analyzed two cases of these tumors. Computer tomography (CT), contrast-enhanced CT, gastroscopy, endoscopic ultrasonography (EUS) were applied to diagnose these two patients. In addition, histological examination and immunohistochemistry (IHC) were used to confirm the final diagnosis. All imageological examination such as CT, contrast-enhanced CT, gastroscopy and EUS, diagnosed these two patients as gastrointestinal stromal tumors. Surprisingly, after the subtotal gastric surgery, histological examination showed that these lesions were composed of spindle cells. Those cells presenting in the bundle or fence-like arrangement were mildly heterologous. The outcomes of immunohistochemistry of the cell membrane markers (CD117 / DOG-1 negative, CD34 mild positive or negative) were the exact opposite of the characteristic presentation of GIST. These pathological findings refused the primary diagnosis, and were in coincidence with the characteristics of gastric schwannomas. To our best knowledge, these tumors are really rare that only two cases could be reported and analyzed clinically. CT and EUS could help diagnose gastric schwannomas before pathological examination results, but in order to define this diagnosis correctly. Pathological examination and IHC staining should be applied after surgery. To avoid the recurrence, it is better to resect the lesion completely, regardless of the malignant or benign disease.

Extraordinarily Large Malignant Extra Gastro Intestinal Stromal Tumor Presenting as an Abdominal Mass

Background: Gastrointestinal stromal tumors (GIST) are rare of all gastrointestinal neoplasms with histology and immunohistochemistry similar to gastrointestinal stromal tumors. They occur outside the gastrointestinal tract rarely and are, hence, called the extra gastrointestinal stromal tumors (EGIST). Herein, we report a rare case of malignant extra intestinal gastrointestinal tumor.
 Case report: A 39 yr old female presented to the surgical OPD with a lump in the abdomen since 4 months. We received a lobulated tumor which measured 40x25x20 cm3 and showed capsule. Cut surface was predominantly solid, grey white with areas of hemorrhage and necrosis along with cystic areas. Histopathology and immunohisto chemistry revealed it to be a malignant EGIST of mesentery because of no continuity of the tumor with the small intestine microscopically.
 Conclusion: EGIST is a rare no epithelial tumor of mesentery. Omentum histopathological examination is a standard technique to diagnose the tumor and to differentiate it immunohistochemically from other tumors having similar morphology. Correct diagnosis plays valuable role in the treatment.