Case Of Extragastrointestinal Stromal Tumors Research Articles

Extra-gastrointestinal stromal tumor arising in the lesser omentum with a platelet-derived growth factor receptor alpha (PDGFRA) mutation: a case report and literature review

BackgroundGastrointestinal stromal tumors (GIST) arising from sites other than the gastrointestinal (GI) tract, termed extra-gastrointestinal stromal tumors (EGIST), are rare. Among EGIST, those with platelet-derived growth factor receptor alpha (PDGFRA) mutations are even rarer, with only a few cases reported. About 80% of GIST has KIT mutations, and 10% of GIST have PDGFRA mutations, which commonly affect the TK2 domain (exon 18). Among the exon 18 mutations, the D842V substitution is limited to gastric GIST. In EGIST, the degree of KIT and PDGFRA mutations varies on where the location of the tumor is, and it is suggested that omental EGIST is similar to gastric GIST. Adjuvant imatinib therapy is recommended for high-risk GIST; however, it is known that imatinib is less effective against GIST with a PDGFRA D842V mutation.Case presentationA 75-year-old man was referred to our hospital with an extrinsic tumor of the lesser curvature of the gastric body. Intraoperative findings showed a tumor located outside of the lesser omentum with no connection between the tumor and the gastric wall. The tumor was subsequently resected. Pathological examination indicated a GIST arising in the lesser omentum measuring 70 mm in its longer dimension. Because the tumor had a PDGFRA mutation (D842V substitution), imatinib was suspected to lack efficacy to the tumor. Thus, although the tumor was considered clinically to have a high risk of recurrence, adjuvant imatinib therapy was not indicated. The patient has been free of recurrence for 29 months since the surgery.ConclusionWe described a case of EGIST with a PDGFRA mutation arising in the lesser omentum. And we reviewed 57 cases of omental EGIST and showed that the clinicopathological characteristics and mutation status in omental EGIST were very similar to gastric GIST. In particular, PDGFAR D842V mutation rate in omental EGIST seemed as high as that in gastric GIST. These results suggested that omental EGIST is strongly related to gastric GIST, so the behavior of omental EGIST might be akin to gastric GIST. However, further studies are required to determine the prognosis and the necessity of adjuvant therapy for EGIST with a PDGFRA mutation.

Outcome and prognostic factors of primary gastrointestinal stromal tumours following complete surgical resection

Background: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms. Surgical excision is the definitive treatment for primary localized GISTs. Targeted therapy represented by tyrosine kinase inhibitors has clearly improved the survival rates in patients with GISTs. The aim of this study was to identify prognostic factors influencing tumor recurrence and survival after curative resection of primary GISTs.Methods: This study was conducted on thirty seven patients with localized primary GIST who were operated on in the Department of General Surgery. Then completed adjuvant therapy in the medical Oncology Department, Faculty of Medicine; Tanta University Hospital, from March 2016 to August 2017. All patients’ data, clinical presentations, radiological and endoscopic data, surgical procedures, complications, and survival data were collected, reviewed and analyzed.Results: The mean age of the studied cases was 53.62 years. 14 patients were males and 23 patients were females. Eleven patients had performance status 2. Abdominal pain was the most common complaint. 4 patients presented with acute intestinal obstruction. Ileum was the most common site (14 cases) followed by stomach (13 cases). We reported four cases of extra-gastrointestinal stromal tumors (EGISTs). According to the mitotic index in studied cases; sixteen patients had mitotic count ˃5/50 HPF. Surgical excision was done in all cases with histopathologically negative resection margins. Thirty three cases showed good complete response without local recurrence or distant metastasis.Conclusions:Performance status of patients, tumor size and mitotic index were independent prognostic predictors for tumor recurrence or metastasis.

Retroperitoneal Extra-Gastrointestinal Stromal Tumor: A Case Report and Review of the Literature

Gastrointestinal stromal tumors (GISTs) are the most common GI tract mesenchymal tumors. They mainly occur in the stomach and small intestine, although they are occasionally found in the colon, rectum, esophagus, and appendix. However, tumors showing the same pathological findings as GISTs are also found at sites other than the GI tract. These rare extra-gastrointestinal stromal tumors (EGISTs) are found in the omentum, mesentery, pancreas, retroperitoneum, diaphragm, pleura, abdominal wall, and other intra-abdominal sites. Here, we present two cases of EGISTs arising from the retroperitoneum. A 59-year-old woman was accidentally found to have an abdominal mass, and computerized tomography (CT) imaging showed an intra-abdominal mass with a size of 4.4×6.4 cm in the epigastric region of the abdomen, just adjacent to the lesser curvature of the stomach and pancreatic tail. The mass was resected, and pathological results showed an EGIST that stained positive for CD117 (c-kit). The second patient was an 84-year-old man who visited our outpatient clinic with chronic diarrhea and intermittent dyspepsia. An abdominal CT scan showed a hypodense lesion, about 5.2×8×5.8 cm in size, in the left upper quadrant of the abdomen, just adjacent to the spleen, stomach, and pancreatic tail. He underwent laparotomy, and EGIST was confirmed using pathological examination. Resection remains the treatment of choice for EGISTs. However, the existing data on EGISTs are not adequate for significant conclusions on prognosis and survival. Therefore, further studies are imperative.

Primary extragastrointestinal stromal tumor arising in the pancreas: report of a case

Primary extragastrointestinal stromal tumors (EGISTs) arising in the pancreas are extremely rare, with only ten cases documented to our knowledge. We report a further case of EGIST of the pancreas. The patient was a 55-year-old man who presented with postprandial abdominal discomfort. Abdominal computed tomography and magnetic resonance imaging showed a lobulated heterogenous enhancing mass, 11cm in diameter, in the abdominal cavity. No regional lymphadenopathy, ascites, or metastasis was seen radiologically. There was no obvious lesion in the stomach or small intestine. The initial diagnosis was a solid pseudopapillary tumor or serous cystic neoplasm. The patient underwent distal pancreatectomy with splenectomy. Microscopically, the tumor consisted of spindle cells arranged in short fascicles. Mitotic figures were seen in 7/50 high-power fields. Immunohistochemical examination revealed strongly positive staining for CD117. Based on these findings, the final pathologic diagnosis was a primary EGIST of the pancreas. This case consolidates the possibility that this rare tumor can involve the pancreas as a primary site and should be included in the differential diagnosis of cystic lesions in this site.

A Hemodialysis Patient with Primary Extra-gastrointestinal Stromal Tumor: Favorable Outcome with Imatinib Mesylate

Extra-gastrointestinal stromal tumors (EGISTs) are rare. We describe a 69-year-old man with a 9-year history of hemodialysis. This patient was diagnosed as having peritoneal tumors measuring over 10 cm in length. Histologically, the tumors were composed of monomorphic spindle cells. The number of mitotic figures was 5 per 50 high-power fields. Immunohistochemical analysis revealed strong positivity for c-KIT and MIB-1. He was treated with imatinib mesylate with no recurrences 20 months later. We present this first case of EGIST in a hemodialysis patient in which imatinib mesylate had a favorable outcome and also discuss the rarity of this case.

Long-term survival of a patient after resection of a gastrointestinal stromal tumor arising from the pancreas

Gastrointestinal stromal tumors (GISTs) may arise in any part of the gastrointestinal tract; extra-gastrointestinal locations are extremely rare. Only a few cases of extragastrointestinal stromal tumor arising from the pancreas were reported. None of the reports described a long-term follow-up of the patients. This report describes an interesting and unusual case of GIST arising from the pancreas. A 74-year-old female presented with a palpable abdominal mass. CT scan showed a large mass 11 x 8 x 4 cm originating from the tail of the pancreas. Percutaneous biopsy revealed a GIST predominantly with spindle cells, but some parts also contained epitheloid cells. The patient was treated by distal pancreatic resection with splenectomy. Immunohistochemistry of the tumor showed a staining pattern characteristic of GIST. The patient has achieved a long-term survival of five years and six months without any sign of recurrence of the disease. This is the first reported case of an extra-gastrointestinal stromal tumor arising from the pancreas treated surgically, with a long-term survival.

Extragastrointestinal Stromal Tumors of the Omentum: Review Apropos of a Case with a Novel Gain-of-Function KIT Mutation

We describe a case of extragastrointestinal stromal tumor (EGIST) of the omentum harboring a novel KIT mutation and review the literature on omental EGISTs, emphasizing on molecular genetic data. A large EGIST arising from the lesser omentum was incidentally diagnosed in a 68-year-old man during emergency laparotomy for intra-abdominal hemorrhage following a car accident. The tumor was composed of CD117+/CD34+ spindle-shaped cells with low mitotic activity. Analysis of tumor DNA revealed a heterozygous duplication of 30 bp in exon 11 of KIT. Nine months after R0 resection, positron emission tomography showed abnormal uptake in the upper abdomen. The patient was treated with imatinib mesylate and is alive and well 2 years after the operation. Omental EGISTs remain silent despite a large tumor size. They are diagnosed at a median age of 65 years and show low proliferative activity in the majority (about 80%) of cases. Although the median follow-up period of published cases is only 20 months, mortality appears to be low after R0 resection and is expected to decrease further following the recent introduction of imatinib therapy for high-risk tumors. Accumulating molecular genetic data may lead to improved prognostic classification and patient management.

A Single-Institution Experience with Eight CD117-Positive Primary Extragastrointestinal Stromal Tumors: Critical Appraisal and a Comparison with Their Gastrointestinal Counterparts

IntroductionGastrointestinal stromal tumors (GISTs) arising from outside the gut wall also termed extragastrointestinal stromal tumors (EGISTs) are reported to be rare. Presently, their pathogenesis remains controversial, and recently, it has been proposed that EGISTs may be the result of extensive extramural growth of GISTs which lose contact with the gut wall. This study presents a single-institution experience with eight EGISTs and compares their clinicopathological features with mural GISTs in order to determine further insight to their possible origin. MethodsBetween 1997 and 2008, 156 patients with pathologically proven CD117-positive primary GISTs were retrospectively reviewed. Eight tumors were identified as EGISTs, 104 were gastric GISTs, and 44 were small-bowel GISTs. Mural GISTs were classified as extramural or intra/transmural according to their gross pattern of growth. ResultsThere were five male and three female patients with a median age of 58 years (range, 42–81 years). All patients were symptomatic, and the tumors were located in the greater omentum (n = 2), lesser sac (n = 2), lesser omentum, retroperitoneum, small-bowel mesentery, and pancreas. The median tumor size was 140 mm (range, 55 to 220 mm). Seven of eight EGISTs were found to be in close association to the adjacent gut wall. Pathological examination demonstrated that two tumors demonstrated focal involvement of the muscularis propria of the adjacent gut wall. Four tumors demonstrated tumor abutting or adherent to the serosa but no muscle involvement and one tumor was separated from the serosa. Comparison between the clinicopathological features of EGISTs with extramural GISTs and intra/transmural GISTs demonstrated that EGISTs were significantly larger [140 range (55–220) mm vs 80 (5–260) mm vs 50 (15–190) mm, P = 0.049, P < 0.001 respectively]. ConclusionThe occurrence of true EGISTs is rare. Most cases demonstrate some form of communication or contact with the gut wall, and EGISTs are significantly larger than extramural or intra/transmural GIST. These observations suggest that most, if not all, cases of EGISTs are likely to represent mural GISTs with extensive extramural growth with eventual loss of contact with the muscle layer of the gut.

Extra-gastrointestinal Stromal Tumor: Report of Two Cases

Gastrointestinal stromal tumors (GIST) usually originate from the gastrointestinal wall. GISTs not originating from the gastrointestinal tract, named extragastrointestinal stromal tumors (EGIST) are very rare. This study aims to find the characteristics of EGIST by reviewing the literature. In the past 6 years, we have treated 2 patients with EGIST. One was a 49-year-old man and the other, a 72-yearoldwoman. Both of them presented with a large palpable abdominal mass. One patient underwent a pancreaticoduodenectomy because the tumor was located near the duodenum; the other received resection of the tumor without the need for resection of the gastrointestinal tract. We searched on PubMed and reviewed 119published cases of EGIST, including the two patients treated by us, in the related English literature from 1953 to March 2007. Both of our patients survived postoperatively and are still living well, of one survival already exceeding 5 years. Based on the reviewed studies, the incidence of EGIST is slightly higher in women. Owing to a leak of symptoms in the beginning period, the EGIST can reach a relatively large size. Curative resection is at present the main option for EGIST.

Gastrointestinal Stromal Tumor of Prostate

Sung-Woo Park, Wan Lee, Gi-Young Huh, Moon-Kee Chung From the Departments of Urology and Pathology, College of Medicine, Pusan National University, Busan, Korea Gastrointestinal stromal tumor (GIST) are the most common mesenchymal malignancy of the gastrointestinal tract. They are diagnosed by combination of c-kit and CD34. We report a case of extragastrointestinal stromal tumor originating from the prostate diagnosed after retropubic open prostatectomy. The patient underwent additional retropubic radical prostatectomy again after 2 weeks. The possibility of secondary involvement by a rectal GIST was excluded by radiological, intraoperative and pathologic findings. (Korean J Urol 2008;49:383-385) 󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏

Extragastrointestinal stromal tumor possibly originating from the prostate

We report a case of extragastrointestinal stromal tumor possibly originating from the prostate. The patient underwent radical prostatectomy because of no metastatic evidence. No recurrence and metastasis have been found during 14 months of follow up. To our knowledge, this may be the third such case published in a report in terms of pathological type.

Extragastrointestinal stromal tumor presenting as a scrotal mass: an unusual case

We describe an unusual case of extragastrointestinal stromal tumor (EGIST) presenting as a scrotal mass. A 71-year-old man presented with a gradually enlarging scrotal mass with a 20-year duration. Physical examination revealed a huge (as large as volleyball), round, nontender mass occupying the whole scrotum, which was resected completely. Clinical and radiological findings did not comply with any other primary site disease. Under histological examination, the tumor showed a spindle cell pattern with low cellularity, absence of necrotic and mitotic features. immunohistochemical analysis revealed the tumor reactive for CD117 and CD34, while negative for smooth muscle actin, desmin and S-100 protein. To our knowledge, this is the first reported case of an EGIST involving the scrotum.

Extragastrointestinal Stromal Tumor: A Report Of A Rare Case

Extragastrointestinal stromal tumors (EGIST) are mesenchymal tumors that occur outside the gastrointestinal tract and show histological appearance similar to the gastrointestinal stromal tumor and a positive c-kit expression. Only a few cases of EGISTs are reported. We report a rare case of extragastrointestinal stromal tumor of omentum, which was treated by surgical excision.

Les tumeurs stromales extradigestives : à propos de quatre observations

Gastrointestinal stromal tumors (GIST) are mesenchymal tumors that arise from the wall of the gastrointestinal tract expressing CD117 and/or the CD34. Similar tumors were described in the soft tissue of the abdomen and are so-called extragastrointestinal stromal tumors (EGIST). We report 4 new cases of EGIST. The tumors occurred in 2 women and 2 men, who ranged in age from 42 to 71 years. Three tumors arose from the soft tissue of the abdominal cavity, and the remainder arose from the retroperitoneum. They ranged in size from 10 to 27 cm. Three cases were composed purely of short fusiform cells tumors, the last case showed an epithelioid pattern. All the tumors expressed CD117. One patient presented with local recurrence and metastasis, one was lost to the follow-up and two patients were doing well. Immunohistochemistry is useful in distinguishing EGIST from other mesenchymal tumors. Intra-abdominal aggressive fibromatosis may express actin and CD117 but catenin is also positive, leiomyosarcoma expresses the actin and/or desmin but CD117 is usually negative, retroperitoneal dedifferentiated liposarcoma is CD117 negative and PS100 positive, inflammatory myofibroblastic tumor is negative for CD117 and CD34. The solitary fibrous tumor expresses CD34 and is negative to CD117. Some tumors expressing CD117 such desmoplastic round cell tumor should not be confused with EGIST. On the occasion of these four observations, we will discuss the clinical aspects and the main differential diagnoses of this tumor.

Clinicopathological and Immunohistochemical Features of Extragastrointestinal Stromal Tumors: Report of Two Cases

CD117 (c-kit proto-oncogene protein product) is expressed in most gastrointestinal stromal tumors (GISTs) and plays a crucial role in the pathogenesis and treatment of this disease. However, the clinicopathological and immunohistochemical features of CD117-positive mesenchymal tumors without connection to the gastrointestinal tract, known as extragastrointestinal stromal tumors (EGISTs), are not well documented because these tumors are rare. We describe the clinicopathological and immunohistochemical features of two cases of EGIST and compare them with those of GIST. Of the 1855 abdominal or esophageal tumors resected during the past 10 years at our hospital, 23 were GISTs and 2 were EGISTs. The clinicopathological or immunohistochemical characteristics do not seem to differ remarkably between EGISTs and GISTs. Although rare, CD117 positivity should be tested in abdominal mesenchymal tumors that have no connection to the gastrointestinal tract. The clinicopathological features of CD117-positive abdominal mesenchymal tumors may not depend on whether the tumor is connected to the gastrointestinal tract.

Extragastrointestinal Stromal Tumor Of The Greater Omentum Presenting A Large Multilocular Cystic Mass: A Case Report And Review Of Literature

Primary neoplasms of the greater omentum are rare and and may pose difficulty for the preoperative histologic diagnosis. We report a case of extragastrointestinal stromal tumor of the greater omentum in a patient with chronic pancreatitis, which has been tentatively diagnosed of a benign omental cyst preoperatively. Computed Tomography showed a multiloculated large cystic mass of the greater omentum with multiple thick septa and a solid component and pancreatic calcification. Fine needle aspiration cytology showed a few histiocyte in a bloody background and it was negative for malignant cells. The patient underwent resection of the huge cyst including a major part of the greater omentum. Histologically, the tumor was consisted of sheets and strands of relatively uniform medium sized round epithelioid cells. Immunohistochemical staining of the tumor cells was positive for CD117 (c-kit, a transmembrane tyrosine kinase receptor), CD34 and vimentin, but it was negative for S-100 and Calretinin. These findings were compatible with extragastrointestinal stromal tumor (EGIST). We emphasized the possibility of extragastrointestinal stromal tumor of the greater omentum, although the preoperative radiologic findings suggested as a benign omental cyst.