Large cell neuroendocrine carcinoma of the ampulla of Vater

BACKGROUND: Neuroendocrine tumors of the ampulla of Vater are extremely rare, and few cases of large cell neuroendocrine carcinoma (LCNEC) of the ampulla have been reported. METHODS: A 48-year-old male with obstructive jaundice was admitted to our hospital. On examination the patient was found to have a periampullary growth and subsequently underwent the Whipple's procedure. RESULTS: Histopathological examination and immunohistochemistry revealed features of LCNEC of the ampulla of Vater. The patient developed multiple liver metastases 6 months after Whipple's procedure. CONCLUSION: LCNEC of the ampulla of Vater is rare and highly aggressive, with a dismal prognosis.     

Malignant extra-gastrointestinal stromal tumor of the pancreas:Report of two cases and review of the literature

Gastrointestinal stromal tumors(GISTs)are mesenchymal tumors that arise from the gastrointestinal tract.In rare cases,these tumors are found in intra-abdominal sites unrelated to the gastrointestinal tract,such as the mesentery,omentum and retroperitoneum.However,pancreatic extra-gastrointestinal stromal tumors are extremely rare,with only 14 previous cases reported.A 61-year-old man with no clinical symptoms had a routine check-up,during which an abdominal mass located in the pancreas tail was detected.Abdominal surgery was performed with resection of the pancreas tail and the spleen,and he was diagnosed with lowrisk GISTs.Another 60-year-old man with no clinical symptoms underwent Computed tomography which revealed a well-demarcated tumor,6 cm in diameter,in the head of the pancreas.He was diagnosed with pancreatic GISTs.Here,we describe two rare cases of pancreatic GISTs and review the cases previously reported in the literature.     

Concomitant gastric adenocarcinoma and stromal tumor in a woman with polymyalgia rheumatica

Gastrointestinal stromal tumors （GISTs） are rare neoplasms （1%） of the gastrointestinal tract and to our knowledge only rare cases of synchronous presentation of gastric carcinomas and GISTs are reported in the literature. A 72-year-old female with a simultaneous presentation of gastric adenocarcinoma and GIST is presented. Moreover, due to polymyalgia rheumatica the patient received corticosteroids as treatment for the last 3 years. The concomitant occurrence of these neoplasms may involve common carcinogenic factors and there could be an association with polymyalgia rheumatica either as a paraneoplastic presentation or due to its treatment with corticosteroids.     

Multiple gastrointestinal stromal tumors and bilateral pheochromocytoma in neurofibromatosis

The coincidence of a gastrointestinal stromal tumor （GIST） and a neuroendocrine tumor （NET） in neurofibromatosis type 1 （NF1） is described only five times within the literature. We report on a 63 year old Caucasian female with the rare condition of neurofibromatosis type 1 coinciding with recurrent gastrointestinal stromal tumor plus bilateral pheochromocytoma （PCC）. After a history of palpitations and dizziness that lasted for years, a left adrenal mass was detected by CT. Laparotomy revealed a pheochromocytoma of the left adrenal gland while an ileoterminal GIST was found incidentally intraoperatively. After six months contralateral PCC and multiple recurrent GIST were resected again. After four years the patient is doing well without any signs of further recurrent tumors. Discussion includes review of the literature.     

Gastrointestinal stromal tumor of the ampulla of Vater:A case report

Gastrointestinal stromal tumors(GISTs)usually develop in the stomach and small intestine and only rarely occur at the ampulla of Vater,with only 11 cases reported in the literature.We report a case of a GIST of the ampulla of Vater.A 36-year-old,previously healthy man presented with a loss of consciousness lasting a few minutes.A gastroduodenal endoscopy revealed a submucosal tumor with central ulceration at the ampulla of Vater.The enhanced computed tomography scan revealed a smooth-outlined hypervascular solid mass(24 mm×30 mm)in the second part of the duodenum.Neither lymphadenopathy nor metastasis was observed.Magnetic resonance cholangiopancreatography and endoscopic retrograde cholangiopancreatography showed normal bile and pancreatic ducts.Biopsies were collected from the ulcerative lesion,and the tumor was diagnosed as a GIST.A submucosal tumor with central ulceration may be a characteristic form of GISTs of the ampulla of Vater,and biopsy studies are useful for the diagnosing such tumors.The patient underwent pancreatoduodenectomy,and the operative specimen revealed a 2.2-cm GIST with 1 mitosis per 50 highpower fields.The gold standard for treatment of GISTs is surgical resection without rupture of a capsule.If technically possible,local resection may be considered.However,when the location of the lesion presents challenges,a pancreatoduodenectomy should be performed for GIST of the ampulla of Vater.     

Gastrointestinal stromal tumor of the stomach with a giant abscess penetrating the gastric lumen

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. In large GISTs, cystic degeneration, necrosis and focal hemorrhage that occur inside the tumor can result in gastrointestinal bleeding. We describe a case of a 74-year old male with GIST of the stomach accompanied with a giant abscess that penetrated the gastric lumen. The patient experienced undiagnosed fever for two months prior to hospitalization. Gastrointestinal endoscopy, X-ray series and computed tomography of the patient’s abdomen revealed a gastric submucosal tumor in the fornix, with a fistula to the gastric lumen that was inundated with a great deal of pus. The mass was diagnosed as a GIST from biopsy specimens. The patient was treated by endoscopic drainage of the abscess and intravenous administration of antibiotics. Eventually, a partial gastrectomy was performed. He was also administered Imanitib mesylate as adjuvant therapy. He was followed up for 2 years and no metastasis or recurrence was recognized at the follow- up examinations. This is the first report of a patient with clearly diagnosed GIST with endoscopic evidence of an abscess penetrating into the gastric lumen.     

Perforation of metastatic melanoma to the small bowel with simultaneous gastrointestinal stromal tumor

The gastrointestinal tract (GIT) is a common site of metastases for malignant melanoma. These metastatic tumors are often asymptomatic. We describe a case of a 58-year-old male who presented with a sudden onset of generalized abdominal pain. The patient's past medical history was significant for lentigo melanoma of the right cheek. Laparotomy was performed and two segments of small bowel, one with a perforated tumor, the other with a non-perforated tumor, were removed. Histology and immunohistochemical staining revealed the perforated tumor to be a metastatic malignant melanoma and the non-perforated tumor was found to be a gastrointestinal stromal tumor (GIST). The patient was discharged 7 d postoperatively. To the best of our knowledge, this is the first reported case in the literature of a simultaneous metastatic malignant melanoma and a GIST. Surgical intervention is warranted in patients with symptomatic GIT metastases to improve the quality of life or in those patients with surgical emergencies.     

Multiple bowel intussusceptions from metastatic localized malignant pleural mesothelioma: A case report

Localized malignant pleural mesothelioma (LMPM) is a rare occurrence, and gastrointestinal intra-luminal metastases have not previously been reported. Herein, we report a patient with LMPM who presented with a local recurrence 10 mo after initial en bloc surgical resection. Abdominal computed tomography was performed for intractable, vague abdominal pain with episodic vomiting, which showed a "target sign" over the left lower quadrant. Laparotomy revealed several intra-luminal metastatic tumors in the small...     

Long-term survival of a case with multiple liver metastases from duodenal gastrointestinal stromal tumor drastically reduced by the treatment with imatinib and hepatectomy

Constitutive activation of KIT receptor tyrosine kinase is a critical factor in the pathogenesis of gastrointestinal stromal tumors (GISTs). But there is little information on whether combination of imatinib mesylate (IM) and surgical treatment can prolong survival in the cases with unresectable multiple liver metastases. We report a case of postoperative recurrence of GIST treated by the tyrosine kinase inhibitor IM and surgical treatment. The initial complete response (CR) to treatment continued for 18 mo, but single liver metastasis showed regrowth in the left hepatic lobe during IM treatment. After partial resection of the recurrent tumor, postoperative course was uneventful and the patient has survived without recurrence for 24 mo. Currently, imatinib is the first-line therapy for non-resectable GISTs, but a single agent therapy often leads to tumor resistance. Even if tolerance to imatinib occurs, a combination of imatinib and surgical treatment can prolong survival in some cases as reported here. However, further studies on a large number of cases of recurrent GIST are necessary to evaluate the effectiveness of IM treatment combined with surgery.     

Rapidly aggravated skeletal muscle metastases from an intrahepatic cholangiocarcinoma

We present a rare case of intrahepatic cholangiocarcinoma(ICC)with multiple skeletal muscle metastases.The patient was a 55-year-old Asian woman presenting with abdominal pain;abdominal and pelvic computed tomography and magnetic resonance cholangiopancreatography revealed an unresectable ICC with hepatic metastasis and metastastatic lymphadenopathy in the porto-caval area.After 3 mo of treatment with palliativeradiotherapy and chemotherapy,magnetic resonance imaging of the thoracolumbar spine detected right psoas muscle and paraspinous muscle metastases.We performed an ultrasound-guided percutaneous fineneedle biopsy that confirmed a similar pattern of poorly differentiated adenocarcinoma.The patient treated with palliative chemotherapy and achieved 10 mo of survival.Here we report the first case quickly spread to multiple sites of muscle even though the three-month treatment,compare to the other cases reported muscle metastases at diagnosis.     

Imatinib therapy for a patient with metastasis of colonic gastrointestinal stromal tumor: report of a case

Gastrointestinal stromal tumors (GISTs) developing in the colon are rare, accounting for <5 % of all GISTs. There are few data on the clinical efficacy of tyrosine kinase inhibitors in colonic GISTs. We report here on an 80-year-old male patient with advanced GIST of the transverse colon. The patient underwent palliative resection of the primary tumor because the disease was associated with multiple liver metastases and peritoneal dissemination. Immunohistochemical analysis of the surgical specimens showed KIT and CD34 expression. Sequence analysis revealed that the tumor harbored deletion mutation at codons 557–558 in exon 11 of the c-kit gene. A diagnosis of colonic GIST was made. The patient postoperatively underwent imatinib therapy for the remaining metastatic tumors. Imatinib therapy induced a cyst-like appearance of the liver metastases and stabilized the disease. In the present case, c-kit gene analysis was found to be clinically helpful for validating the diagnosis and therapeutic decision making for this rare disease.     

Gastrointestinal stromal tumor solitary distant recurrence in the left brachialis muscle

Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract that are most commonly found in the stomach. Although GISTs can spread to the liver and peritoneum, metastasis to the skeletal muscle is very rare and only four cases have previously been reported. These cases involved concurrent skeletal metastases of primary GISTs or liver metastases. Here, we report the first case of a distant recurrence in the brachialis muscle after complete remission of an extra-luminal gastric GIST following a wedge resection of the stomach, omental excision, and adjuvant imatinib therapy for one year. Ten months after therapy completion, the patient presented with swelling and tenderness in the left arm. Magnetic resonance imaging revealed a large mass in the brachialis muscle, which showed positivity for c-kit and CD34 upon pathologic examination. This is the first reported case of a solitary distant recurrence of a GIST in the muscle after complete remission had been achieved.     

Gastrointestinal stromal tumor of the rectum with liver metastasis: report of a case

Gastrointestinal stromal tumors (GISTs) have unique immunohistochemical and molecular genetic features that set them apart from leiomyomas, leiomyosarcomas, and schwannomas. Although recurrence of GIST usually tends to develop locally or in the liver, rectal GIST reoccur predominantly at the original site of the tumor. We describe a rare case of rectal GIST with multiple liver metastases. We carried out immunohistochemical staining for p53 protein, proliferating cell nuclear antigen (PCNA), integrins, and interleukin-1 receptor type I (IL-1RI) in order to investigate the degree of malignancy of this neoplasm in addition to the immunohistochemical analyses that were necessary for diagnosing GIST. Histologically, the rectal tumor was classified as an uncommitted type of rectal GIST with multiple liver metastases. Positive immunostaining for PCNA, alpha6 integrin subunit, and IL-1RI was found in both the rectal and hepatic tumors. The patients with a rectal GIST may have an increased risk of liver metastasis and a poor prognosis independent of the size of the tumor.     

Gastrointestinal stromal tumor of the stomach with axillary lymph node metastasis: A case report

Gastrointestinal stromal tumors (GISTs) are the most common type of gastrointestinal mesenchymal tumors, although metastasis to the perigastric lymph nodes is relatively rare, compared with liver or peritoneal metastasis. In this report, we describe a case of stomach GIST with a solitary simultaneous metastasis in the left axillary lymph node. A 68-year-old man was diagnosed with a large upper-stomach GIST, and computed tomography and positron emission tomography revealed masses in the left axilla and right mediastinum. We did not detect evidence of metastases to the liver, or other sites including the perigastric lymph nodes, although findings from the surgically resected axillary lymph nodes were compatible with GIST metastasis. Treatment using imatinib markedly reduced the gastric and mediastinal lesions, and this response persisted for 3 years. The patient subsequently experienced rapid growth of the gastric lesion without mediastinal or axilla recurrence, which required palliative surgery. Despite continuing medical treatment(sunitinib and regorafenib), the patient died of liver metastases 23 mo after the surgery. Based on our findings, it appears that the axillary lymph nodes can be a potential metastatic site for GIST metastasis.     

Effect of a tyrosine kinase inhibitor STI571 in a patient with hepatic metastases from a duodenal gastrointestinal stromal tumor

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors. The molecular etiology is the result of mutations in the c-Kit gene. The mutant c-Kit proteins, which are activated without a stem cell factor, contribute to the tumor development. STI571 selectively inhibits c-Kit, BCR-ABL, and PDGFR tyrosine kinases. Based on this potential to inhibit critical c-Kit function in GISTs, case studies have reported effective outcomes following treatment with STI571. This case report describes a highly effective use of STI571 in a 54-year-old woman with multiple liver metastases from a GIST originating in the duodenum.     

Primary esophageal gastrointestinal stromal tumor with PDGFRA mutation

Gastrointestinal stromal tumors (GISTs) of the esophagus are a rare entity. Diagnosis of GIST is currently based on immunohistochemical staining of c-KIT or CD34. However, some tumors have clinicopathologic features of GIST but do not express c-KIT or CD34. A few GISTs contain mutations within a receptor tyrosine kinase protein, platelet-derived growth factor receptor alpha (PDGFRA). We herein report a case of esophageal GIST that was KIT negative and had a PDGFRA mutation. A 75-year-old male who had a giant submucosal tumor in the lower part of the thoracic esophagus underwent surgical resection. Immunohistochemical staining of the tumor revealed that it was uniformly negative for KIT, but partially positive for CD34, and negative for S-100 protein and smooth muscle actin (SMA), which led to the final diagnosis of GIST. PDGFRA genetic testing revealed a mutation in exon 12. The mitotic index was over 5/50 high-power fields, and necrotic changes were noted. Adjuvant chemotherapy using imatinib mesylate was administered. The patient has been disease free for 2 years. To the best of our knowledge, this is the only reported case of esophageal GIST that was KIT negative and had a PDGFRA mutation. In cases of digestive submucosal tumor that are difficult to diagnose because of c-KIT or CD34 negativity despite being suspicious for GIST, PDGFRA genetic testing may help for diagnosis of this minority type of GIST.     

Isolated abdominal wound metastasis from a gastrointestinal stromal tumor

BACKGROUND: Gastrointestinal stromal tumors (GIST) frequently recur even after complete resection. The typical pattern of failure from GISTs is both local and distant with hepatic and peritoneal metastases being most common. Isolated abdominal-wall recurrence from GISTs has not been previously described. AIM OF THE STUDY: To report an isolated abdominal-wound recurrence in the absence of widespread disease in a patient with GIST. METHODS: Case report of a GIST and isolated abdominal-wound recurrence after laparoscopic-assisted en bloc resection. RESULTS: Elderly male patient presented with an isolated abdominal wall incisional recurrence 18 mo after gastric resection and adjuvant imatinib mesylate therapy for a high-grade GIST. CONCLUSIONS: Complete resection of gastrointestinal stromal tumors followed by imatinib therapy may alter the extent of recurrence.     

Small gastrointestinal stromal tumor concomitant with early gastric cancer： A case report

The term gastrointestinal stromal tumors (GISTs)is defined diagnostically as the main group of mesenchymal tumors with spindle or epithelioid cells arising from the wall of the gastrointestinal tract with immunohistochemical reactivity for CD117 antibody.Previous studies revealed that cells in GISTs express a growth factor receptor with tyrosine kinase activity (termed c-kit), which is the product of the c-kit protooncogene. The most specific and practical diagnostic criteria for GISTs are: immunohistochemically determined c-kit (CD117) expression; mitotic score; and tumor size.A small GIST concomitant with early gastric cancer is rarely encountered clinically. Herein we have reported a case of a 1.1-cm GIST detected by esophagogastroduo denoscopy concomitant with a Ⅱc type of early gastric cancer (signet ring cell type). It was detected during a routine physical health examination. To our knowledge,this is the first report of a small GIST concomitant with a signet ring cell type of early gastric cancer.