scholarly journals SDH-deficient gastrointestinal stromal tumors: paradoxical effect of imatinib

2020 ◽  
Vol 22 (2) ◽  
pp. 133-136
Author(s):  
Daria A. Filonenko ◽  
Andrey A. Meshcheryakov ◽  
Petr P. Arkhiri ◽  
Maxim P. Nikulin ◽  
Evgeniia S. Kolobanova
Keyword(s):  
Receptor Tyrosine Kinase ◽  
Gastrointestinal Stromal Tumors ◽  
Left Lung ◽  
Growth Factor Receptor ◽  
Gastric Gist ◽  
Stromal Tumors ◽  
Carney Triad ◽  
Duration Of Response ◽  
Radiological Response ◽  
Node Metastases

Succinate dehydrogenase deficient gastrointestinal stromal tumors (dSDH GIST) is a unique group of GISTs with an energy metabolism defect as the key oncogenic mechanism without mutations in the proto-oncogene receptor tyrosine kinase (KIT) and platelet-derived growth factor receptor a (PDGFRA). SDH-deficiency is a result of mutations in SDHA, SDHB, SDHC, SDHD. There are three variants of dSDH GIST: sporadic dSDH GIST, Carney triad or Carney-Stratakis syndrome. dSDH GISTs are characterized by young age, female prevalence, gastric location, multiple tumors, lymph node metastases, indolent behavior and poorly response to imatinib. Despite the literature data, we report the response to imatinib in patient with dSDH GIST. 21 year old female patient presented with incomplete Carney triad (multiply gastric GIST with liver and peritoneal metastases, left lung chondroma). The patient received imatinib with clinical response in a month and radiological response in three months-cystic transformation of primary gastric tumor and liver metastases. The duration of response was 8 months.

Management of Gastrointestinal Stromal Tumors

2015 ◽  
Author(s):  
César Serrano ◽  
Suzanne George
Keyword(s):  
Differential Diagnosis ◽  
Gastrointestinal Stromal Tumors ◽  
Abdominal Mass ◽  
Growth Factor Receptor ◽  
Driver Mutations ◽  
Gastric Gist ◽  
Genetic Syndromes ◽  
Stromal Tumors ◽  
Successful Model ◽  
Computed Tomographic

Gastrointestinal stromal tumors (GISTs) are the most common tumors of mesenchymal origin in the gastrointestinal tract. These tumors are believed to arise from the interstitial cells of Cajal. The oncogenic activation of KIT or platelet-derived growth factor receptor–α is common to these tumors, and GISTS are considered to be a successful model for rational development of personalized treatments against oncogenic driver mutations in cancer. This review covers the epidemiology, etiology and genetics, pathophysiology and pathogenesis, diagnosis, differential diagnosis, treatment, complications, and prognosis of GISTs. Figures show KIT primary and secondary mutations, the clinical and molecular progression of GISTs, a contrast-enhanced computed tomographic scan showing a gastric GIST presenting as a huge abdominal mass, a magnetic resonance image showing a rectal GIST at baseline and responding to neoadjuvant imatinib after 8 months of treatment, and hematoxylin-eosin stain of a fusocellular and an epithelioid GIST. Tables list demographics and clinical characteristics, associated genetic syndromes, relevant differential diagnosis, risk stratification systems used in GIST, and the comparative activity of approved regimens for GIST. This review contains 5 highly rendered figures, 5 tables, and 74 references.

scholarly journals SDHB immunohistochemistry: a useful tool in the diagnosis of Carney–Stratakis and Carney triad gastrointestinal stromal tumors

2010 ◽  
Vol 24 (1) ◽  
pp. 147-151 ◽  
Author(s):  
José Gaal ◽  
Constantine A Stratakis ◽  
J Aidan Carney ◽  
Evan R Ball ◽  
Esther Korpershoek ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Stromal Tumors ◽  
Carney Triad

scholarly journals Novel receptor tyrosine kinase targeted combination therapies for imatinib-resistant gastrointestinal stromal tumors (GIST)

Oncotarget ◽  
2014 ◽  
Vol 6 (4) ◽  
pp. 1954-1966 ◽  
Author(s):  
Daruka Mahadevan ◽  
Noah Theiss ◽  
Carla Morales ◽  
Amy E. Stejskal ◽  
Laurence S. Cooke ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Receptor Tyrosine Kinase ◽  
Gastrointestinal Stromal Tumors ◽  
Combination Therapies ◽  
Stromal Tumors ◽  
Imatinib Resistant

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.

scholarly journals Mutation status and immunohistochemical correlation of EGFR mutations in gastrointestinal stromal tumors

2021 ◽  
Vol 24 (1) ◽  
pp. 67-72
Author(s):  
H Ozkayalar ◽  
MC Ergoren ◽  
G Tuncel ◽  
S Kurt ◽  
E Cevik ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Kinase Inhibitors ◽  
Treatment Options ◽  
Growth Factor Receptor ◽  
Egfr Mutations ◽  
Stromal Tumors ◽  
Molecular Alterations ◽  
Treatment Regimes ◽  
Research Areas ◽  
Turkish Patients

Abstract Being one of the leading causes of cancer deaths worldwide and their resistance to conventional treatment methods, made gastrointestinal stromal tumors (GISTs) one of the hot topics in medical research areas in the past decade. To investigate molecular alterations underlying the tumor is of great importance to be able to develop new, targeted treatment options. In this study, GIST samples obtained from 40 Turkish patients were analyzed for actionable epidermal growth factor receptor (EGFR) mutations that are related to treatment regimes in non small cell lung cancer (NSCLC) to understand whether EGFR expression is altered in GISTs. Established alterations in EGFR can make the use of tyrosine kinase inhibitors possible, which are currently used in cancer therapy, especially in NSCLC. Our results indicated that EGFR mutations are rare in GISTs. Further research is needed to sequence whole coding regions of the gene to investigate new actionable mutations in EGFR in an increased sample size.

Gain-of-function mutations of platelet-derived growth factor receptor α gene in gastrointestinal stromal tumors

2003 ◽  
Vol 125 (3) ◽  
pp. 660-667 ◽  
Author(s):  
Seiichi Hirota ◽  
Akiko Ohashi ◽  
Toshirou Nishida ◽  
Koji Isozaki ◽  
Kazuo Kinoshita ◽  
...  
Keyword(s):  
Growth Factor ◽  
Gastrointestinal Stromal Tumors ◽  
Growth Factor Receptor ◽  
Platelet Derived Growth Factor ◽  
Gain Of Function ◽  
Stromal Tumors

scholarly journals Gastrointestinal Stromal Tumors (GIST): A Prospective Analysis and an Update on Biomarkers and Current Treatment Concepts

2015 ◽  
Vol 7s1 ◽  
pp. BIC.S25045 ◽  
Author(s):  
Anna Koumarianou ◽  
Panagiota Economopoulou ◽  
Panagiotis Katsaounis ◽  
Konstantinos Laschos ◽  
Petroula Arapantoni-Dadioti ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Kinase Inhibitor ◽  
Treatment Guidelines ◽  
Growth Factor Receptor ◽  
Current Treatment ◽  
University Hospital ◽  
Stromal Tumors ◽  
Outpatient Unit ◽  
Factor Receptor Alpha ◽  
Metastatic Setting

Gastrointestinal Stromal tumors (GIST) are the most common sarcomas of the gastrointestinal tract, with transformation typically driven by activating mutations of cKIT and less commonly platelet-derived growth factor receptor alpha (PDGFRA). Successful targeting of tyrosine-protein kinase Kit with imatinib, a tyrosine kinase inhibitor, has had a major impact in the survival of patients with GIST in both the adjuvant and metastatic setting. A recent modification of treatment guidelines for patients with localized, high-risk GIST extended the adjuvant treatment duration from 1 year to 3 years. In this paper, we review the clinical data of patients with GIST treated in the Oncology Outpatient Unit of “Attikon” University Hospital and aim to assess which patients are eligible for prolongation of adjuvant imatinib therapy as currently suggested by treatment recommendations.

scholarly journals A Malignant Gastrointestinal Stromal Tumor of the Gallbladder Immunoreactive for PDGFRA and Negative for CD 117 Antigen (c-KIT)

HPB Surgery ◽  
2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Athanasios Petrou ◽  
Pari Alexandrou ◽  
Alexandros Papalambros ◽  
Angelica Saetta ◽  
Paraskevi Fragkou ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Gastrointestinal Stromal Tumors ◽  
Growth Factor Receptor ◽  
Stromal Tumor ◽  
Platelet Derived Growth Factor ◽  
Stromal Tumors ◽  
Cd 117 ◽  
Factor Receptor Alpha ◽  
Malignant Gists ◽  
First Time

Gastrointestinal stromal tumors (GISTs) compose the largest category of well-recognized nonepithelial neoplasms of the gastrointestinal tract (GI). GISTs of the gallbladder are extremely rare tumors. Only four malignant, two benign and one GIST-like tumor of the gall bladder have ever been described. The four malignant GISTs were all positive for CD 117 antigen (c-kit). We present for the first time a malignant gastrointestinal stromal tumor of the gallbladder, immunoreactive for platelet-derived growth factor receptor alpha (PDGFRA) and negative for CD 117 antigen (c-KIT).

scholarly journals A bittersweet symphony

2014 ◽  
Vol 21 (4) ◽  
pp. C7-C9
Author(s):  
Adrian F Daly ◽  
Albert Beckers
Keyword(s):  
Succinate Dehydrogenase ◽  
Gastrointestinal Stromal Tumors ◽  
New Work ◽  
Stromal Tumors ◽  
Carney Triad ◽  
Cancer Syndromes

This issue analyzes new work expanding the range of how genetic dysregulation of succinate dehydrogenase subunit (SDHx) genes can cause cancer syndromes with a prominent endocrine component, in this case Carney triad, which is characterized by gastrointestinal stromal tumors, paraganglioma, and pulmonary chondromas.

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