scholarly journals Unusual Appearance of a Pendulated Gastric Tumor: Always Think of GIST

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Kristel De Vogelaere ◽  
Vanessa Meert ◽  
Frederik Vandenbroucke ◽  
Georges Delvaux ◽  
Anne Hoorens
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Mutational Analysis ◽  
Abdominal Mass ◽  
Molecular Genetic ◽  
Large Mass ◽  
Clinicopathological Characteristics ◽  
Stromal Tumor ◽  
Cystic Degeneration ◽  
Genetic Characteristics ◽  
Cystic Changes

Objective. To investigate the clinicopathological characteristics of gastrointestinal stromal tumor (GIST) with significant cystic changes and to assess the molecular genetic characteristics.Methods. In a 68-year-old man, a large abdominal tumoral mass was discovered incidentally. Computed tomography (CT) and magnetic resonance imaging (MRI) confirmed the presence of a large cystic lesion with multiple contrast-enhancing septae and papillary projections. No clear connection with any of the surrounding organs was identified. Malignancy could not be excluded, and surgery was indicated. During surgery, the large mass was found to be attached by a narrow stalk to the large curvature of the stomach.Results. The histological features and immunohistiochemical profile of the tumor cells (positivity for CD117 and CD34) were consistent with a gastrointestinal stromal tumor with a high risk of progressive disease according to the Fletcher classification. Diagnosis was confirmed by mutational analysis; this demonstrated mutation in exon 14 of PDGFRA. During the followup of 97 months, the patient had a cancer-free survival.Conclusions. This case demonstrates that gastrointestinal stromal tumors (GISTs) with extensive cystic degeneration should be considered in the differential diagnosis of a cystic abdominal mass.

Immunohistopathological and molecular genetic features of a case in which gastrointestinal stromal tumor recurred five times

2004 ◽  
Vol 54 (3) ◽  
pp. 196-200 ◽  
Author(s):  
Tsukasa Inoue ◽  
Takashi Suzuki ◽  
Kunitoshi Nakagawa ◽  
Yoshimochi Kurokawa ◽  
Susumu Satomi ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Molecular Genetic ◽  
Stromal Tumor ◽  
Genetic Features

scholarly journals Oncogene mutational analysis in Chinese gastrointestinal stromal tumor patients

2018 ◽  
Vol Volume 11 ◽  
pp. 2279-2286 ◽  
Author(s):  
Qiong Chen ◽  
Rong Li ◽  
Zhi-Gao Zhang ◽  
Qiao-Ting Deng ◽  
Kun Li ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Mutational Analysis ◽  
Stromal Tumor ◽  
Tumor Patients

scholarly journals Exophytic gastrointestinal stromal tumor with cystic changes: A case report

2014 ◽  
Vol 7 (5) ◽  
pp. 1427-1429 ◽  
Author(s):  
CHUN-CHAO ZHU ◽  
YE LIU ◽  
GANG ZHAO
Keyword(s):  
Case Report ◽  
Gastrointestinal Stromal Tumor ◽  
Stromal Tumor ◽  
Cystic Changes

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 An Atypical Equine Gastrointestinal Stromal Tumor

2009 ◽  
Vol 21 (3) ◽  
pp. 387-390 ◽  
Author(s):  
Kathleen B. Muravnick ◽  
Eric J. Parente ◽  
Piero Del Fabio
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Transverse Colon ◽  
Abdominal Mass ◽  
Clinical Signs ◽  
Neuron Specific Enolase ◽  
Giant Cells ◽  
Stromal Tumor ◽  
Nerve Sheath Tumor ◽  
Multinucleated Giant Cells ◽  
Immunohistochemical Profile

A 17-year-old, gelded Quarter Horse cross was found to have a large, intra-abdominal mass. Clinical signs included infrequent mild colic, weight loss, and chronic anemia. Surgery revealed a very large, discrete, hemorrhagic, multilobular mass with vascular attachments to the transverse colon, mesocolon, jejunal mesentery, and omentum; the site of origin was the transverse colon. Histologic examination demonstrated dense sheets, fascicles, palisades, and interconnecting streams of neoplastic spindle cells with lesser numbers of admixed multinucleated giant cells. Based on morphology alone, this neoplasm might have been misdiagnosed as a peripheral nerve sheath tumor because many of the morphologic features were suggestive of neural differentiation. Neoplastic cells expressed cluster of differentiation (CD)117 (c-kit), vimentin, desmin, smooth muscle actin, neuron-specific enolase, and S-100 protein and did not express cytokeratin. Based predominantly on the immunohistochemical profile, especially the CD117 positivity, this neoplasm was diagnosed as a gastrointestinal stromal tumor with both myogenic and neurogenic differentiation. The morphology and immunohistochemical profile of this neoplasm were different from published cases of equine gastrointestinal stromal tumors. Unusual aspects included the large size of this neoplasm, the neuroid rather than myxomatous morphology, the presence of multinucleated giant cells, and the expression of desmin.

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