scholarly journals Neoadjuvant Chemotherapy for Duodenal GIST: A Case Report

2017 ◽  
Vol 102 (1-2) ◽  
pp. 81-86
Author(s):  
Akiyoshi Seshimo ◽  
Masayoshi Tsuchiya ◽  
Yoshinobu Ueda ◽  
Makiko Kasuga ◽  
Mikiko Taneichi ◽  
...  
Keyword(s):  
Neoadjuvant Chemotherapy ◽  
Hepatic Cirrhosis ◽  
Unknown Origin ◽  
Outer Side ◽  
Hepatitis C Infection ◽  
Complete Excision ◽  
Kit Mutation ◽  
Stromal Tumors ◽  
Duodenal Gist ◽  
Exon 11

The principal treatment for gastrointestinal stromal tumors (GISTs) is surgical; and complete excision is important, but cannot always be achieved. For such cases, neoadjuvant chemotherapy (NAC) with imatinib mesylate (IM) has been recommended. A case of a GIST of the second portion of the duodenum for which pancreatoduodenectomy was indicated, and for which partial resection was made possible as a result of cytoreduction by IM NAC, is reported. A 64-year-old man with pancytopenia due to hepatic cirrhosis caused by hepatitis C infection received repeated blood transfusions because of anemia of unknown origin starting 2 years earlier. Most recently, the patient had melena with hemoglobin of 5.1 mg/dL. Diagnostic imaging showed a solid tumor, 55 × 48 × 65 mm3, in the second portion of the duodenum showing mainly extramural development. Endoscopic aspiration biopsy showed proliferation of KIT-positive spindle-shaped heterotypic cells. GIST was diagnosed, and an exon 11 KIT mutation was found. Because of the exon 11 mutation, neoadjuvant IM was started at 400 mg/day and then eventually maintained at 300 mg/day for 10 months. Regular CT examinations showed gradual tumor shrinkage. At surgery, a tumor with strong extramural growth was found on the outer side of the duodenum that invaded the retroperitoneum. The tumor was excised as a mass, and the duodenum was resected partially. There has been no recurrence at 9 years postoperatively. Evaluating KIT exon mutations and predicting the effectiveness of NAC appear useful for determining the treatment policy for advanced GISTs.

scholarly journals Neoadjuvant treatment of a duodenal GIST revealed a new imatinib-sensitive exon 11 c-KIT-mutation

2016 ◽  
Vol 27 ◽  
pp. iv100
Author(s):  
V. Perfetti ◽  
S. Delfanti ◽  
L. Pugliese ◽  
R. Riboni ◽  
E. Dallera ◽  
...  
Keyword(s):  
Neoadjuvant Treatment ◽  
Kit Mutation ◽  
Duodenal Gist ◽  
Exon 11

scholarly journals Unraveling the spectrum of KIT mutations in gastrointestinal stromal tumors: An Indian Tertiary Cancer Center Experience

2017 ◽  
Vol 06 (03) ◽  
pp. 113-117 ◽  
Author(s):  
Trupti Pai ◽  
Munita Bal ◽  
Omshree Shetty ◽  
Mamta Gurav ◽  
Vikas Ostwal ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Complete Analysis ◽  
Cancer Center ◽  
Kit Mutation ◽  
Stromal Tumors ◽  
Molecular Alterations ◽  
Kit Gene ◽  
Exon 9 ◽  
Substitution Mutations ◽  
Exon 11

Abstract Background: Primary mutations in the KIT gene are the driving force for gastrointestinal stromal tumors (GIST) tumorigenesis. Predictive role of KIT mutation status aids oncologists in patient management. There is a paucity of comprehensive data on the frequency of mutations in the KIT gene in GIST affecting Indian patients. The aims of this study were to determine the frequency and spectrum of molecular alterations affecting the KIT gene and assess their association with clinicopathologic features in a cohort of patients of GIST. Materials and Methods: Morphological and immunohistochemically confirmed GIST cases (n = 114) accessioned from August 2014-June 2015 were analyzed for mutations in KIT exons 9, 11, 13, and 17 and subjected to Sanger sequencing onto the ABI 3500 Genetic Analyzer. The sequences were analyzed using sequence analysis software: SeqScape® and Chromas Lite. Results: KIT mutations were seen in 70% of cases and the majority of KIT mutations involved exon 11 (57%), followed by exon 9 (10%), exon 13 (3%), and exon 17 (1%). Most common exon 11 mutations were in-frame deletions (61.4%) followed by substitution mutations (19.3%). Exon 9 mutations showed identical duplication of Ala-Tyr at codons 502–503. Simultaneous mutations affecting exon 11 and 13 were discovered. Novel variations, namely, p.Q556E (c.1666C>G), p.Q556dup (c.1666_1668dupCAG), p.K558_V559delinsS (c.1672_1677delAAGGTTinsAGT), p.Y503_F504insTY (c.1509_1510insACCTAT), and p.K642R (c.1925A>G) involving exons 11, 9, and 13, respectively, were observed. Interpretation and Conclusions: First study with complete analysis of all 4 exons of KIT (exons 9, 11, 13, and 17) in Indian GIST patients. Along with well-described KIT mutations, several rare double mutations as well as novel alterations were reported in this series.

scholarly journals Extragastrointestinal stromal tumor of the abdominal subcutaneous tissue: Report of a very rare case at an unusual site

2017 ◽  
Vol 45 (3) ◽  
pp. 1273-1278 ◽  
Author(s):  
Xue He ◽  
Nannan Chen ◽  
Li Lin ◽  
Congyang Wang ◽  
Yan Wang
Keyword(s):  
Tumor Cells ◽  
Subcutaneous Tissue ◽  
Dermatofibrosarcoma Protuberans ◽  
Pathological Examination ◽  
Chinese Han ◽  
Unusual Site ◽  
Stromal Tumors ◽  
Activating Mutations ◽  
Eosinophilic Cytoplasm ◽  
Exon 11

Extragastrointestinal stromal tumors (EGISTs) are rare tumors that arise outside the digestive tract. We report a case of an EGIST arising in the subcutaneous tissue of the abdominal wall, which at this site can often be misdiagnosed as dermatofibrosarcoma protuberans. The tumor was surgically resected from a 72-year-old male Chinese Han patient, and pathological examination revealed spindle-shaped tumor cells with eosinophilic cytoplasm and an oval nucleus. Immunohistochemically, the tumor cells showed strong cytoplasmic positivity for CD34, c-KIT (CD117), and DOG1. Tests for activating mutations of GISTs showed that the tumor cells carried an in-frame deletion (NP_000213.1:p.Lys550_Gln556del) in exon 11 of c-KIT (CD117). Thus, an EGIST should be considered in patients with abdominal subcutaneous tumors with an epithelioid, spindle-shaped, or mixed morphology. Immunohistochemistry of c-KIT (CD117) and DOG1 and genetic testing for activating mutations are recommended to aid in the differential diagnosis of subcutaneous tumors. In short, although EGISTs are rare in the abdominal subcutaneous tissue, pathologists must be aware of their possibility.

Gastrointestinal Stromal Tumors With KIT Exon 11 Deletions Are Associated With Poor Prognosis

2006 ◽  
Vol 130 (6) ◽  
pp. 1573-1581 ◽  
Author(s):  
Johanna Andersson ◽  
Per Bümming ◽  
Jeanne M. Meis–Kindblom ◽  
Harri Sihto ◽  
Nina Nupponen ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Poor Prognosis ◽  
Stromal Tumors ◽  
Exon 11

Imatinib in the Management of Multiple Gastrointestinal Stromal Tumors Associated With a Germline KIT K642E Mutation

2007 ◽  
Vol 131 (9) ◽  
pp. 1393-1396
Author(s):  
Janet Graham ◽  
Maria Debiec-Rychter ◽  
Christopher L. Corless ◽  
Robin Reid ◽  
Rosemarie Davidson ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Interstitial Cells Of Cajal ◽  
Germline Mutations ◽  
Mesenchymal Tumors ◽  
Stromal Tumors ◽  
Pdgfra Gene ◽  
Oncogenic Mutations ◽  
Esophageal Tumors ◽  
Exon 11 ◽  
Cells Of Cajal

Abstract Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gut and are distinguished by expression of CD117 (c-Kit). Oncogenic mutations in the KIT or PDGFRA gene are detected in approximately 85% of sporadic GISTs. In recent years, examples of familial GIST have been reported in which germline mutations of KIT or PDGFRA result in multiple GISTs, skin disorders, and other abnormalities. The most common germline mutations are in KIT exon 11, mutations in exons 8 and 17 have also been described, and there are 2 families with germline PDGFRA mutations. We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal. To our knowledge, this is only the second germline example of this particular mutation. The patient's esophageal tumors were stabilized with imatinib.

scholarly journals Safety of Regular-Dose Imatinib Therapy in Patients with Gastrointestinal Stromal Tumors Undergoing Dialysis

2016 ◽  
Vol 10 (1) ◽  
pp. 17-23 ◽  
Author(s):  
Ryota Niikura ◽  
Takako Serizawa ◽  
Atsuo Yamada ◽  
Shuntaro Yoshida ◽  
Mariko Tanaka ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Imatinib Treatment ◽  
Efficacy And Safety ◽  
Tarry Stool ◽  
Dialysis Patients ◽  
Stromal Tumors ◽  
Duodenal Gist ◽  
Johnson Syndrome ◽  
Old Japanese ◽  
Steven Johnson Syndrome

The number of cancer patients undergoing dialysis has been increasing, and the number of these patients on chemotherapy is also increasing. Imatinib is an effective and safe therapy for KIT-positive gastrointestinal stromal tumors (GIST), but the efficacy and safety of imatinib in dialysis patients remain unclear. Because clinical trials have not been conducted in this population, more investigations are required. We report on a 75-year-old Japanese man undergoing dialysis who presented with massive tarry stool from a duodenal GIST. The duodenal GIST was 14 cm in diameter with multiple liver and bone metastases. The patient underwent an urgent pancreaticoduodenectomy to achieve hemostasis. After surgery, he was administered imatinib 400 mg/day. No severe adverse event including myelosuppression, congestive heart failure, liver functional impairment, intestinal pneumonia, or Steven-Johnson syndrome occurred, and the liver metastasis remained stable for 4 months. During chemotherapy, hemodialysis continued three times per week without adverse events. We suggest that regular-dose imatinib is an effective and safe treatment in patients with GIST undergoing dialysis. In addition, we present a literature review of the effectiveness and safety of imatinib treatment in dialysis patients.

scholarly journals Hepatitis C Infections with Cryoglobulinemia: Features and Symptoms

Doctor Ru ◽  
2021 ◽  
Vol 20 (4) ◽  
pp. 26-32
Author(s):  
S.P. Lukashik ◽  
◽  
I.A. Karpov ◽  
O.V. Krasko ◽  
◽  
...  
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis C ◽  
Chronic Hepatitis C ◽  
Hepatic Cirrhosis ◽  
Hepatitis C Infection ◽  
Genotype 3 ◽  
Virus Genotype ◽  
Study Objective ◽  
Blood Assay ◽  
Study Results

Study Objective: To study the incidence of cryoglobulinemia (CGE) in chronic hepatitis C infection (hepatitis C infection) and to analyse the characteristics of chronic hepatitis C infection with CGE in Belarusian patients. Study Design: Open non-randomised observational study. Materials and Methods. The study included 773 patients with chronic hepatitis C infection (in Minsk). The patients had their anti-hepatitis C antibodies, chronic hepatitis C RNA and virus genotype measured; blood cryoglobulins identified; demographic and epidemiological data collected; and complete blood assay and biochemical blood assay performed. Study Results. 282 (36.5%) subjects had positive blood cryoglobulins test, while 491 (63.5%) patients had negative result. CGE and non-CGE groups had comparable sex, BMI and infection duration parameters. CGE patients had statistically more surgeries (р < 0.001), clinical syndromes (including asthenovegetative, arthralgic and dyspeptic syndromes, р < 0.001 in all cases), hepatic fibrosis F3 (р < 0.05), hepatic cirrhosis (р < 0.001), and extrahepatic diseases (EHDs); more often they had genotype 3 of hepatitis C infection (р < 0.05) and low replicative activity of the virus (р < 0.05). Conclusion. The incidence of CGE in the study population made 36.5%. CGE patients had more pronounced hepatic process chronization, frequenter EHDs, more genotype 3 cases, and lower replicative activity of the virus. Keywords: hepatitis С, hepatic cirrhosis, cryoglobulinemia, extrahepatic diseases.

scholarly journals The importance of molecular biology in development, prognosis, treatment and resistance to targeted therapy in gastrointestinal stromal tumors

2011 ◽  
pp. 69-79
Author(s):  
Alessandro Comandone ◽  
Elisa Berno ◽  
Simona Chiadò Cutin ◽  
Antonella Boglione
Keyword(s):  
Tyrosine Kinase ◽  
Gastrointestinal Stromal Tumors ◽  
Kinase Inhibitors ◽  
Growth Factor Receptor ◽  
Neoplastic Transformation ◽  
Response To Therapy ◽  
Mesenchymal Tumors ◽  
Kit Mutation ◽  
Stromal Tumors ◽  
Receive Treatment

Gastrointestinal stromal tumors (GISTs) are the commonest mesenchymal tumors of the gastroenteric tract, and are generally believed to originate from the neoplastic transformation of the interstitial cells of Cajal, the pacemaker structures of the stomach and intestine. Exon and genetic mutations (point/deletions) are fundamental for the development of GISTs: the constitutional characteristic of this neoplasm is the presence of the cell surface Kit receptor. Kit is the product of the proto-oncogene cKit, situated in chromosome 4. Ninety-eight percent of GISTs express mutated isoforms of Kit or of PDGFRA (Platelet growth factor receptor a). Kit mutation is the basic condition for autophosphorylation of tyrosine kinase residues in proteins. Autophosphorylation initiates pathogenetic processes in Cajal cells, toward a neoplastic transformation. Imatinib mesilate and, more recently, sunitinib are tyrosine kinase inhibitors, specific antagonists for Kit and PDGFRA, with good activity against GISTs. Most molecular and clinical data currently available concern imatinib. Exon mutations are strategic as prognostic and as predictive factors. In recent years, much evidence suggests that survival, response to therapy and resistance to imatinib are related to different mutations. In the near future, GIST patients will receive treatment differentiated by expressed Kit and PDGFRA mutations, thus truly individualized therapy.

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