Atypical presentation of gastrointestinal stromal tumours-a case report.
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ABSTRACT:
SUBMITTER: Raja K
PROVIDER: S-EPMC3693384 | biostudies-other | 2013 Jun
REPOSITORIES: biostudies-other
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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
Project description:Gastrointestinal stromal tumours (GISTs) are the most common connective tissue neoplasms of the gastrointestinal tract, the most common clinical presentation of which is with abdominal pain or gastrointestinal bleeding.We describe a case of a perforated gastric GIST as well as reviewing the relevant published literature.A 51-year-old woman presented to the acute assessment unit with a 1-day history of severe epigastric pain on a background of longstanding reflux symptoms. Radiological investigation demonstrated a perforated mass in the gastric antrum and the patient subsequently underwent an emergency distal gastrectomy. She recovered well postoperatively and was discharged home. Her condition remains stable six months following surgery. Histological analysis revealed the perforated lesion to be a GIST. A PubMed search suggests that this is the first English report to describe a perforated gastric GIST. Six further published reports (written in English or with an English abstract) describing the presentation of small bowel GISTs with perforation are reviewed.We present the first English report of a perforated gastric GIST. More common presentations include abdominal pain and gastrointestinal bleeding. Although rare, GISTs should be considered in the differential diagnoses of perforated gastrointestinal masses.
| S-EPMC5137650 | biostudies-other
Project description:Testicular choriocarcinoma is a relatively rare malignancy with a highly aggressive nature. Timely diagnosis and treatment can help prolong the survival of patients and even cure them. This case reports a 29-year-old male who presented to the clinic for a month with epigastric pain. On examination, a massive mass of approximately 9*10 cm could be palpated in the upper abdomen. When asked about his previous history, the patient only described a history of a right inguinal hernia that had been repaired 12 years earlier. The admission diagnosis was considered the retroperitoneal tumor, which was found to have metastasized to the liver and lungs after the completion of relevant tests. We then performed a CT-guided lune puncture biopsy on day 8 of admission. The biopsy pathology suggested metastatic cancer was considered. As the symptoms of tumor compression gradually worsened, we performed surgical treatment (retroperitoneal tumor resection + partial duodenal resection + enteroanastomosis) on day 13 of admission. The postoperative pathology was choriocarcinoma. We subsequently conducted a detailed inquiry with the patient's family about his medical history and found a history of inguinal testicle. Through testicular ultrasound examination, it was preliminarily determined to be testicular choriocarcinoma (not yet pathologically confirmed). We wanted to start salvage chemotherapy as soon as possible after surgery. However, the patient's postoperative condition was poor, with rapid progression of hepatopulmonary metastases and gradually increased thyrotoxicosis, and we started salvage chemotherapy (EP regimen: etoposide and cisplatin) on postoperative day 12. However, the patient was forced to stop due to a severe chemotherapy reaction and died of respiratory and cardiac arrest in the hospital. For male patients with retroperitoneal mass, the possibility of germ-cell neoplasm should first be excluded. By inquiring in detail about a history of cryptorchidism and in the initial days of hospitalization, testicular exploration, ultrasounds, and serum tumor markers (AFP, β-HCG) tests can be conducted to rule out the possibility of germ-cell neoplasm, thereby preventing misdiagnosis and treatment delays. If the clinical diagnosis is metastatic germ-cell tumor with severe symptoms of metastatic disease, surgery should never be used as the initial treatment.
| S-EPMC11294831 | biostudies-literature
Project description: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.
| S-EPMC3693257 | biostudies-literature
Project description:The histogenesis of 10 spindle cell tumors of gastrointestinal tract (GIT) of last three years of our institution was studied, on the basis of immunohistochemical (IHC) staining. The tumours were categorized into benign, borderline malignant and malignant, mainly based on the histologic parameters (HP) such as predominant cell type, cellularity, type of growth pattern, mitotic figures etc. The study included 7 males and 3 females in the age group from 21 to 56 years. 4 tumors were located in stomach and 6 in the small intestine. The initial symptoms included pain abdomen, palpable mass and general weakness. There were 7 benign, 1 borderline and 2 malignant leiomyomatous tumors according to the histologic parameters we followed. Vimentin, desmin, S-100, and non-specific enolase (NSE) were the immunological markers used to identify the cellular lineage. Smooth muscle differentiation was demonstrated by nine (6 benign and 3 malignant) tumours. One male patient (Case 1), originally reported as leiomyoma based on HP, was positive for S-100 and NSE. Another case, a female, categorised as leiomyosarcoma, showed dual differentiation toward myogenic and neural elements on IHC staining (Case 2). IHC study played important role in the identification of cellular differentiation of these tumors as the same was not possible on light microscopic findings alone.
| S-EPMC5531967 | biostudies-other
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
Project description:IntroductionSystemic mastocytosis is a rare disease resulting from infiltration of atypical mast cells in multiple organ systems and present with variety of symptoms. Primary appendiceal and cecal mass with isolated abdominal pain as a presenting feature in systemic mastocytosis have not been reported in literature up to now.Case reportWe described a 69- years-old female with systemic mastocytosis who presented with chronic abdominal pain and recent progression. On imaging of the abdomen and pelvis showed a mass in cecum. The patient underwent surgery and histopathologic evaluation of cecal and appendiceal masses revealed uniform small round cell tumor with eosinophilic cytoplasm admixed with many eosinophils distorting normal colonic mucosal architecture. The neoplastic cells showed positive expression of CD117 and Mast cell tryptase. According to all these considerations systemic mastocytosis was confirmed as the diagnosis.ConclusionIsolated abdominal pain and primary large intestinal mass are uncommon features of systemic mastocytosis. This case report informed physicians and pathologists to consider it as one of differential diagnosis.
| S-EPMC9422182 | biostudies-literature
Project description:Introduction and importanceThe atypical urethral mucosal outpouching into adjacent tissue is termed urethral diverticulum (UD). Most patients present with a post-void dribble, dyspareunia, and dysuria.Case presentationWe reported a 60 years old woman who presented with recurrent urethral discharge, and a palpable lump in the vagina. Cystoscopy showed the location of the diverticular ostium.Clinical discussionUrethral diverticulum (UD) is uncommon and requires a relatively high level of suspicion, particularly in women with symptoms of atypical voiding. The widely-known classic symptoms involve the 'three Ds': post-void dribbling, dyspareunia, and dysuria. For radiological modalities, the transvaginal and transperineal ultrasound (US), Voiding cystourethrogram (VCUG), and cystoscopic examinations should be conducted to establish the diagnosis.ConclusionUrethral Diverticulum (UD) should always be considered in cases of urethral discharge and intravaginal mass. A complete history, complete clinical, VCUG, and cystoscopic examinations should be conducted to establish the diagnosis. The technique of three-layer vaginal flap is related to a very good success rate without major complications.
| S-EPMC8921291 | biostudies-literature
Project description:Gastrointestinal stromal tumours (GISTs) are mesenchymal neoplasms originating in the gastrointestinal tract, usually in the stomach or the small intestine, and rarely elsewhere in the abdomen. The malignant potential of GISTs is variable ranging from small lesions with a benign behaviour to fatal sarcomas. The majority of the tumours stain positively for the CD-117 (KIT) and discovered on GIST-1 (DOG-1 or anoctamin 1) expression, and they are characterized by the presence of a driver kinase-activating mutation in either KIT or platelet-derived growth factor receptor α. Although surgery is the primary modality of treatment, almost half of the patients have disease recurrence following surgery, which highlights the need for an effective adjuvant therapy. Traditionally, GISTs are considered chemotherapy and radiotherapy resistant. With the advent of targeted therapy (tyrosine kinase inhibitors), there has been a paradigm shift in the management of GISTs in the last decade. We present a comprehensive review of targeted therapy in the management of GISTs.
| S-EPMC4872062 | biostudies-literature
Project description:BackgroundScimitar syndrome is a rare congenital disease characterized by partial or total anomalous pulmonary venous return from the right lung into the systemic venous system, and accounts for 0.5-2% of all congenital heart disease. Severe forms of the disease are diagnosed in childhood. However, because of the benign form of the syndrome in adults, many are asymptomatic, or present only mild symptoms including exertional dyspnoea, arrhythmias, and respiratory infections. We report an atypical presentation with hepatomegaly.Case summaryA 24-year-old woman was evaluated for abdominal discomfort. Physical examination revealed a remarkable hepatomegaly. Chest X-ray revealed dextroversion, enlargement of the right cavities, and a curvilinear opacity known as 'scimitar sign'. A transthoracic echocardiography demonstrated right ventricular dilation and a venous collector draining into right suprahepatic vein, which was severely dilated, with large hepatomegaly. Scimitar syndrome was confirmed by magnetic resonance imaging (MRI). Therefore, the patient underwent surgery, redirecting the pulmonary venous return to left atrium. Three months later, the patient remained asymptomatic and both the hepatomegaly and the right chamber volumes normalized.DiscussionAbdominal discomfort, as in our clinical case, is a highly atypical presentation of scimitar syndrome. It is important for physicians to be aware that diagnostic suspicion can be established from a chest X-ray, on which the scimitar sign can be distinguished in many cases. The diagnosis must be confirmed with other imaging modalities, such as echocardiography, MRI, or computed tomography. Corrective surgery may relieve the symptoms related to liver congestion at follow-up.
| S-EPMC8374964 | biostudies-literature