Gastrointestinal stromal tumor perforation in a case with neurofibromatosis presenting with abdominal pain

2012 ◽  
Vol 23 (1) ◽  
pp. 83-84 ◽  
Author(s):  
Fatih ASLAN ◽  
Emrah ALPER ◽  
Fatih CANTURK ◽  
Behlul BAYDAR ◽  
Nejat CIN ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Gastrointestinal Stromal Tumor ◽  
Stromal Tumor ◽  
Tumor Perforation

scholarly journals Cutaneous Hyperpigmentation and Familial Gastrointestinal Stromal Tumor Associated with Germline KIT Mutation Treated with Imatinib

2020 ◽  
Author(s):  
Wei Yuan ◽  
Wen Huang ◽  
Lei Ren ◽  
Chen Xu ◽  
Lijuan Luan ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Gastrointestinal Stromal Tumor ◽  
Mutational Analysis ◽  
Direct Sequencing ◽  
Correct Diagnosis ◽  
Saliva Sample ◽  
Stromal Tumor ◽  
Imatinib Treatment ◽  
Kit Mutation ◽  
Exon 11

Abstract Background: Familial gastrointestinal stromal tumor (GIST) has been identified with multiple GISTs containing the mutations in germline KIT and PDGFRA. There are only 35 kindreds with germline KIT and 6 with PDGFRA mutations have been reported so far. Familial GIST is often characterized by a series of manifestations, such as multiple lesions, hyperpigmentation, mastocytosis, and dysphagia. Only some kindreds have response to imatinib treatment.Materials and Methods: A 25-year-old Chinese woman went to hospital because of the abdominal pain, and through the computed tomography (CT) scan showed us the multiple tumors in the small intestine. Her father had a history of multifocal GISTs, and referred to the hospital with abdominal pain and tumor recurrences last year. Immuhistochemical analysis of CD117 and DOG-1 were performed on tumor samples from the two patients, while KIT mutational analysis was carried out by direct sequencing on DNA from paraffin-embedded specimens and saliva sample.Results: Multiple GISTs associated with diffuse interstitial cells of Cajal (ICC) hyperplasia were illustrated in these two patients. These tumors were positive for CD117 and DOG-1. The germline mutation at codon 560 of exon 11 (p.V560G) of the KIT gene were found. The treatment with imatinib resulted in favorable responses in both tumor and cutaneous hyperpigmentation.Conclusions: It is difficult to make a correct diagnosis of familial GIST at first time for its rarity. This case was finally diagnosed as familial GIST depending on the combination of diffuse ICC hyperplasia, germline KIT mutation, hyperpigmentation and its family history.

scholarly journals Cutaneous Hyperpigmentation and Familial Gastrointestinal Stromal Tumor Associated With Germline KIT Mutation Treated With Imatinib: A Chinese Case Report

2020 ◽  
Author(s):  
Wei Yuan ◽  
Wen Huang ◽  
Lei Ren ◽  
Jinghuan Lv ◽  
Chen Xu ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Gastrointestinal Stromal Tumor ◽  
Mutational Analysis ◽  
Direct Sequencing ◽  
Correct Diagnosis ◽  
Stromal Tumor ◽  
Kit Mutation ◽  
History Of ◽  
Exon 11 ◽  
Cells Of Cajal

Abstract BackgroundFamilial gastrointestinal stromal tumor (GIST) has been identified with multiple GISTs harboring the mutations in germline KIT and PDGFRA. There are only 35 kindreds with germline KIT and 6 with PDGFRA mutations have been reported to date. Familial GIST is often characterized by a series of manifestations, such as multiple lesions, hyperpigmentation, mastocytosis, and dysphagia. Only some kindreds have response to imatinib treatment.Materials and MethodsA 25-year-old Chinese woman presented to the hospital with abdominal pain, and computed tomography (CT) scan showed multiple tumors in the small intestine. Her father had a history of multifocal GISTs, and referred to the hospital with abdominal pain and tumor recurrences last year. Immuhistochemical analysis of CD117 and DOG-1 were performed on tumor samples from the two patients, while KIT mutational analysis was carried out by direct sequencing on DNA from paraffin-embedded specimens and saliva sample.ResultsMultiple GISTs associated with diffuse interstitial cells of Cajal (ICC) hyperplasia were illustrated in these two patients. These tumors were positive for CD117 and DOG-1. The germline mutation at codon 560 of exon 11 (p.V560G) of the KIT gene were found. Treatment with imatinib resulted in favorable responses in both tumor and cutaneous hyperpigmentation.ConclusionsIt is difficult to make a correct diagnosis of familial GIST at first time due to its rarity. This case was finally diagnosed as familial GIST depending on the combination of diffuse ICC hyperplasia, germline KIT mutation, hyperpigmentation and its family history.

scholarly journals Gastrointestinal stromal tumor of the appendix presenting as abdominal pain

2012 ◽  
Vol 73 (5) ◽  
pp. 1134-1139
Author(s):  
Katsuyoshi BABA ◽  
Kenichi HONMA ◽  
Kouji SHINGAMI ◽  
Yoshitaka UJI ◽  
Masaki YAMAGUCHI ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Gastrointestinal Stromal Tumor ◽  
Stromal Tumor

Perforation of Gastrointestinal Stromal Tumor in Small Bowel on an Elderly Patient Presenting Acute Abdominal Pain

2014 ◽  
Vol 18 (4) ◽  
pp. 237-240
Author(s):  
Kong Jin Oh ◽  
Jong Ho Hwang ◽  
Ho Young Lee ◽  
Sung Ik Pyeon ◽  
Jae Gyu Shin ◽  
...  
Keyword(s):  
Elderly Patient ◽  
Abdominal Pain ◽  
Small Bowel ◽  
Gastrointestinal Stromal Tumor ◽  
Acute Abdominal Pain ◽  
Stromal Tumor

scholarly journals Sigmoid Sinus Thrombosis Followed by Splenic Infarction Due to Imatinib Therapy in a Patient with Gastrointestinal Stromal Tumor; Hematological Side Effects of Imatinib

2021 ◽  
Vol 24 ◽  
pp. 148-152
Author(s):  
Hatice YILMAZ ◽  
Güzin Demirağ ◽  
Ali Yılmaz
Keyword(s):  
Abdominal Pain ◽  
Side Effects ◽  
Gastrointestinal Stromal Tumor ◽  
Sinus Thrombosis ◽  
Supplemental Oxygen ◽  
Splenic Infarction ◽  
Sigmoid Sinus ◽  
Stromal Tumor ◽  
Imatinib Therapy ◽  
The Face

Imatinib has an important place as an adjuvant therapy as well as in the treatment of metastatic disease caused by gastrointestinal stromal tumor (GIST), which is one of the common mesenchymal tumors of the gastrointestinal tract. Imatinib is a tyrosine kinase inhibitor and is generally well tolerated. However, it can cause some serious adverse effects. The most common of these are edema on the face and legs, headache, fatigue, nausea, vomiting, and rash on the skin. The most serious side effects, albeit less common, are gastrointestinal or intraabdominal bleeding. However, thrombotic events such as sigmoid sinus thrombosis and splenic infarction are extremely rare. The current report presents a patient with GIST who is treated with imatinib 400 mg/day. The patient presented with edema on the face and headache in the second month of imatinib therapy, after which she was diagnosed with sigmoid sinus thrombosis. The patient who presented with abdominal pain approximately three months later developed splenic infarction. She was administered acetylsalicylic acid, supplemental oxygen (O2) in the first episode of thrombosis, and imatinib therapy was discontinued. The patient's complaints and thrombus regressed, after which imatinib therapy was resumed. She was administered intravenous hydration, supplemental oxygen, analgesics, and imatinib therapy was discontinued after the patient sustained splenic infarction. After resolution of sigmoid sinus thrombosis and the regression of splenic infarction area, the patient was switched to sunitinib therapy. She is attending routine control visits. Sigmoid sinus thrombosis and splenic infarction should be kept in mind as a rare cause of headache and abdominal pain in patients treated with imatinib, and detailed neurological and gastrointestinal evaluation should be performed.

scholarly journals Gastrointestinal Stromal Tumor of the Small Bowel Complicated by Torsion: A Case Report

2021 ◽  
Author(s):  
Yoshizawa Jun-ichi ◽  
Tadaaki Shimizu ◽  
Tomohiko Ikehara ◽  
Kentaro Fukushima ◽  
Ataru Nakayama
Keyword(s):  
Small Intestine ◽  
Abdominal Pain ◽  
Gastrointestinal Stromal Tumor ◽  
Rare Case ◽  
Clinical Manifestations ◽  
Lower Abdominal Pain ◽  
Stromal Tumor ◽  
Palpable Mass ◽  
Contrast Enhanced ◽  
Apparent Diffusion Coefficient Value

Abstract Background: Gastrointestinal stromal tumor (GIST) is a mesenchymal tumor originating in the wall of the gastrointestinal tract, and 20-30% of these tumors originate from the small intestine. The clinical manifestations of GIST of the small intestine generally include a palpable mass, distention, and abdominal pain and sometimes include acute abdomen due to ileus, bleeding, perforation, and intussusception at onset. Here, we describe a rare case of a pedunculated GIST of the small intestine complicated by torsion.Case presentation: A 69-year-old woman was referred for lower abdominal pain. Abdominal contrast-enhanced computed tomography showed a 73×62×57-mm tumor in the pelvic cavity with an enhanced margin and reduced contrast effect inside of it. T2-weighted magnetic resonance imaging showed a hyperintense, demarcated, lobulated tumor. The diffusion-weighted image showed hyperintensity, and the apparent diffusion coefficient value revealed diffusion restriction, indicating malignancy. T1-weighted images showed a low intensity tumor; contrast-enhanced images showed hypointensity inside of the tumor and slight hyperintensity around its edges. It was presumed that the tumor had caused hemorrhagic infarction. Emergency laparotomy was performed, and the pedunculated tumor was found to be twisted 360 degrees clockwise at the pedicle with hemorrhage and necrosis due to torsion. We performed partial resection of the small intestine including the tumor. Histopathology revealed tightly arranged spindle-shaped cells with hemorrhage, congestion, and inflammatory cell infiltration. Immunohistochemical staining showed positivity for CD34, CD117, and DOG1.Conclusions: The present report describes a very rare case in which pedicle torsion of an extra luminal expanding GIST of small intestine, although there were some reports of small intestine volvulus caused by GIST of small intestine as a rare condition. The torsion of pedunculated GIST of small intestine should be recognized as an emergency condition of GIST, and we report that characteristic findings of this condition were acquired with CT and MRI which was possibility useful for the diagnosis.

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