Biology and genetic aspects of gastrointestinal stromal tumors: KIT activation and cytogenetic alterations.

PubWeight™: 2.19‹?› | Rank: Top 2%

🔗 View Article (PMID 12094373)

Published in Hum Pathol on May 01, 2002

Authors

Michael C Heinrich1, Brian P Rubin, B Jack Longley, Jonathan A Fletcher

Author Affiliations

1: Department of Medicine, Division of Hematology/Oncology, Oregon Health Sciences University and Portland VA Medical Center, USA.

Associated clinical trials:

Study On Safety Of Endoscopic Resection For 2-5cm Gastric Gastrointestinal Stromal Tumor | NCT04751591

Articles citing this

Gastrointestinal stromal tumours: origin and molecular oncology. Nat Rev Cancer (2011) 3.55

Combined surgical and molecular therapy: the gastrointestinal stromal tumor model. Ann Surg (2006) 1.95

The value of PET, CT and in-line PET/CT in patients with gastrointestinal stromal tumours: long-term outcome of treatment with imatinib mesylate. Eur J Nucl Med Mol Imaging (2004) 1.47

Pathophysiology, diagnosis, and treatment of gastrointestinal stromal tumors. J Gastroenterol (2005) 1.44

Gastrointestinal stromal tumor of the pancreas: case report with documentation of KIT gene mutation. Virchows Arch (2005) 1.35

Ménétrier disease and gastrointestinal stromal tumors: hyperproliferative disorders of the stomach. J Clin Invest (2007) 1.31

Clinical manifestations and prognostic factors in patients with gastrointestinal stromal tumors. World J Gastroenterol (2003) 1.17

Effects of PKC412, nilotinib, and imatinib against GIST-associated PDGFRA mutants with differential imatinib sensitivity. Gastroenterology (2006) 1.09

Molecular basis for primary and secondary tyrosine kinase inhibitor resistance in gastrointestinal stromal tumor. Cancer Chemother Pharmacol (2010) 1.08

A rare case of rapid growth of exophytic gastrointestinal stromal tumor of the stomach. Dig Dis Sci (2005) 1.05

Gastrointestinal stromal tumor in pregnancy: a case report. Case Rep Med (2009) 1.03

Incidence of gastrointestinal stromal tumor: a retrospective study based on immunohistochemical and mutational analyses. Dig Dis Sci (2007) 1.03

Expression and mutation of c-kit gene in gastrointestinal stromal tumors. World J Gastroenterol (2003) 1.02

The location of KIT and PDGFRA gene mutations in gastrointestinal stromal tumours is site and phenotype associated. J Clin Pathol (2005) 1.02

An update on molecular genetics of gastrointestinal stromal tumours. J Clin Pathol (2006) 1.00

Analysis of CD117-negative gastrointestinal stromal tumors. World J Gastroenterol (2005) 1.00

The reappraisal of gastrointestinal stromal tumors: from Stout to the KIT revolution. Virchows Arch (2003) 0.99

Stem cell factor/c-kit receptor signaling enhances the proliferation and invasion of colorectal cancer cells through the PI3K/Akt pathway. Dig Dis Sci (2007) 0.98

Imatinib mesylate (Gleevec) downregulates telomerase activity and inhibits proliferation in telomerase-expressing cell lines. Br J Cancer (2005) 0.97

KIT expression in fetal, normal adult, and neoplastic renal tissues. J Clin Pathol (2004) 0.97

KIT gene deletions at the intron 10-exon 11 boundary in GI stromal tumors. J Mol Diagn (2004) 0.96

Malignant gastrointestinal stromal tumor of the gallbladder. J Korean Med Sci (2004) 0.95

Neurofibromatosis with gastrointestinal stromal tumors: insights into the association. Dig Dis Sci (2004) 0.93

AMACR amplification and overexpression in primary imatinib-naïve gastrointestinal stromal tumors: a driver of cell proliferation indicating adverse prognosis. Oncotarget (2014) 0.90

C-kit gene mutation in human gastrointestinal stromal tumors. World J Gastroenterol (2004) 0.90

Cancer treatment with kinase inhibitors: what have we learnt from imatinib? Br J Cancer (2004) 0.90

Gastrointestinal stromal tumors (GISTs): an updated experience. Dig Dis Sci (2010) 0.89

Genetic variations in the TERT and CLPTM1L gene region and gastrointestinal stromal tumors risk. Oncotarget (2015) 0.88

Gastrointestinal stromal tumor of the pancreas: A case report and review of the literature. N Am J Med Sci (2009) 0.88

Canine and human gastrointestinal stromal tumors display similar mutations in c-KIT exon 11. BMC Cancer (2010) 0.88

Optimizing imatinib mesylate treatment in gastrointestinal stromal tumors. Gastrointest Cancer Res (2008) 0.88

The molecular biology of soft-tissue sarcomas and current trends in therapy. Sarcoma (2012) 0.88

A case and literature review of complicated gastrointestinal stromal tumors. Gastroenterol Hepatol (N Y) (2008) 0.85

Post-transcriptional dysregulation by miRNAs is implicated in the pathogenesis of gastrointestinal stromal tumor [GIST]. PLoS One (2013) 0.85

Overexpression of carbonic anhydrase-related protein XI promotes proliferation and invasion of gastrointestinal stromal tumors. Virchows Arch (2005) 0.85

Immune cells in primary and metastatic gastrointestinal stromal tumors (GIST). Int J Clin Exp Pathol (2014) 0.84

C-kit expression in human osteosarcoma and in vitro assays. Int J Clin Exp Pathol (2011) 0.84

Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. Oncotarget (2016) 0.84

[Hereditary and non-hereditary syndromic gastointestinal stromal tumours]. Pathologe (2010) 0.83

Abundant Fas expression by gastrointestinal stromal tumours may serve as a therapeutic target for MegaFasL. Br J Cancer (2008) 0.82

[Gastrointestinal stromal tumors: evolution of a tumor concept from unclassifiable neoplasms to targeted molecular therapy]. Pathologe (2010) 0.82

TRK-A, HER-2/neu, and KIT Expression/Activation Profiles in Salivary Gland Carcinoma. Transl Oncol (2008) 0.81

The diagnostic importance of matrix metalloproteinase-7 and nestin in gastrointestinal stromal tumors. Med Sci Monit (2014) 0.81

Chromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumors. BMC Med (2010) 0.80

Immunohistochemical expression of CD117 and vascular endothelial growth factor in retinoblastoma: possible targets of new therapies. Int J Clin Exp Pathol (2014) 0.80

Small EUS-suspected gastrointestinal stromal tumors of the stomach: An overview for the current state of management. Endosc Ultrasound (2016) 0.80

Expression and mutational analysis of c-kit in ovarian surface epithelial tumors. J Korean Med Sci (2006) 0.79

Genetic lineages of undifferentiated-type gastric carcinomas analysed by unsupervised clustering of genomic DNA microarray data. BMC Med Genomics (2013) 0.79

Expression of c-kit and p53 in non-small cell lung cancers. Cancer Res Treat (2004) 0.79

FDG PET and FDG PET/CT in patients with gastrointestinal stromal tumours. Wien Med Wochenschr (2012) 0.78

Synchronous gastric gastrointestinal stromal tumor and colon adenocarcinoma: a case report. Case Rep Oncol Med (2014) 0.78

The activation loop tyrosine 823 is essential for the transforming capacity of the c-Kit oncogenic mutant D816V. Oncogene (2014) 0.78

Correlation between mutational status and survival and second cancer risk assessment in patients with gastrointestinal stromal tumors: a population-based study. World J Surg Oncol (2015) 0.77

A gastrointestinal stromal tumor of the stomach demonstrating a stepwise progression from low- to high-grade malignancy. Case Rep Gastrointest Med (2012) 0.77

Gastrointestinal stromal tumors. Pediatr Surg Int (2009) 0.76

Intratumoral heterogeneity of MIB-1 labelling index in gastric gastrointestinal stromal tumor (GIST). Gastric Cancer (2006) 0.76

Somatic DNA mutation analysis in targeted therapy of solid tumours. Transl Pediatr (2015) 0.76

Genomic mapping of pathways in endometrial adenocarcinoma and a gastrointestinal stromal tumor located in Meckel's diverticulum. Oncol Lett (2015) 0.75

Onco-epidemiology of domestic animals and targeted therapeutic attempts: perspectives on human oncology. J Cancer Res Clin Oncol (2014) 0.75

Laparoscopic surgery for double gastrointestinal stromal tumor of the stomach: a report of two cases. World J Surg Oncol (2014) 0.75

Duodenal bulb tumour of unknown origin. Prz Gastroenterol (2014) 0.75

Relationship between gene mutations and protein expressions of PDGFR α and C-kit in gastrointestinal stromal tumors. Int J Clin Exp Med (2015) 0.75

Consumptive hypothyroidism due to a gastrointestinal stromal tumor expressing type 3 iodothyronine deiodinase. Int J Clin Exp Med (2015) 0.75

Surgical Strategy and Outcomes in Duodenal Gastrointestinal Stromal Tumor. Ann Surg Oncol (2016) 0.75

A case of gastrointestinal stromal tumor with internal tandem duplication in the 3'-terminal of the KIT juxtamembrane domain. Dig Dis Sci (2005) 0.75

Articles by these authors

The landscape of somatic copy-number alteration across human cancers. Nature (2010) 31.88

Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors. N Engl J Med (2002) 24.88

Diagnosis of gastrointestinal stromal tumors: A consensus approach. Hum Pathol (2002) 20.87

Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08

Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol (2003) 11.33

PDGFRA activating mutations in gastrointestinal stromal tumors. Science (2003) 11.11

Long-term results from a randomized phase II trial of standard- versus higher-dose imatinib mesylate for patients with unresectable or metastatic gastrointestinal stromal tumors expressing KIT. J Clin Oncol (2008) 6.43

Molecular correlates of imatinib resistance in gastrointestinal stromal tumors. J Clin Oncol (2006) 6.00

Biology of gastrointestinal stromal tumors. J Clin Oncol (2004) 5.89

Profiling critical cancer gene mutations in clinical tumor samples. PLoS One (2009) 5.63

Most osteomalacia-associated mesenchymal tumors are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literature. Am J Surg Pathol (2004) 4.46

BRD4-NUT fusion oncogene: a novel mechanism in aggressive carcinoma. Cancer Res (2003) 4.17

Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor. J Clin Oncol (2008) 4.10

The novel marker, DOG1, is expressed ubiquitously in gastrointestinal stromal tumors irrespective of KIT or PDGFRA mutation status. Am J Pathol (2004) 3.84

Inhibition of FLT3 in MLL. Validation of a therapeutic target identified by gene expression based classification. Cancer Cell (2003) 3.75

Correlation of kinase genotype and clinical outcome in the North American Intergroup Phase III Trial of imatinib mesylate for treatment of advanced gastrointestinal stromal tumor: CALGB 150105 Study by Cancer and Leukemia Group B and Southwest Oncology Group. J Clin Oncol (2008) 3.64

Efficacy of trabectedin (ecteinascidin-743) in advanced pretreated myxoid liposarcomas: a retrospective study. Lancet Oncol (2007) 3.38

Concern The Her-2/neu gene and protein in breast cancer 2003: biomarker and target of therapy. Oncologist (2003) 3.36

Human cancers express a mutator phenotype. Proc Natl Acad Sci U S A (2006) 3.11

Autophagy inhibition and antimalarials promote cell death in gastrointestinal stromal tumor (GIST). Proc Natl Acad Sci U S A (2010) 3.00

Diagnosis of gastrointestinal stromal tumors: a consensus approach. Int J Surg Pathol (2002) 2.95

Midline carcinoma of children and young adults with NUT rearrangement. J Clin Oncol (2004) 2.92

Prognostic value of KIT mutation type, mitotic activity, and histologic subtype in gastrointestinal stromal tumors. J Clin Oncol (2002) 2.85

Determination of stromal signatures in breast carcinoma. PLoS Biol (2005) 2.84

Clinical and molecular studies of the effect of imatinib on advanced aggressive fibromatosis (desmoid tumor). J Clin Oncol (2006) 2.81

Thyroid hormone inactivation in gastrointestinal stromal tumors. N Engl J Med (2014) 2.80

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci U S A (2010) 2.68

ETV1 is a lineage survival factor that cooperates with KIT in gastrointestinal stromal tumours. Nature (2010) 2.65

KIT gene mutations and copy number in melanoma subtypes. Clin Cancer Res (2008) 2.57

KIT-negative gastrointestinal stromal tumors: proof of concept and therapeutic implications. Am J Surg Pathol (2004) 2.51

The c-KIT mutation causing human mastocytosis is resistant to STI571 and other KIT kinase inhibitors; kinases with enzymatic site mutations show different inhibitor sensitivity profiles than wild-type kinases and those with regulatory-type mutations. Blood (2002) 2.39

PPARgamma ligands inhibit primary tumor growth and metastasis by inhibiting angiogenesis. J Clin Invest (2002) 2.31

Biomarker system for studying muscle, stem cells, and cancer in vivo. FASEB J (2009) 2.31

Gastrointestinal stromal tumors. Virchows Arch (2010) 2.28

Morphologic and immunophenotypic diversity in Ewing family tumors: a study of 66 genetically confirmed cases. Am J Surg Pathol (2005) 2.19

Imatinib for melanomas harboring mutationally activated or amplified KIT arising on mucosal, acral, and chronically sun-damaged skin. J Clin Oncol (2013) 2.11

MAGE-A, mMage-b, and MAGE-C proteins form complexes with KAP1 and suppress p53-dependent apoptosis in MAGE-positive cell lines. Cancer Res (2007) 2.08

A landscape effect in tenosynovial giant-cell tumor from activation of CSF1 expression by a translocation in a minority of tumor cells. Proc Natl Acad Sci U S A (2006) 2.08

Heat shock protein 90 inhibition in imatinib-resistant gastrointestinal stromal tumor. Cancer Res (2006) 2.04

Genomic and functional evidence for an ARID1A tumor suppressor role. Genes Chromosomes Cancer (2007) 1.99

Molecular target modulation, imaging, and clinical evaluation of gastrointestinal stromal tumor patients treated with sunitinib malate after imatinib failure. Clin Cancer Res (2009) 1.99

Molecular and clinical analysis of locally advanced dermatofibrosarcoma protuberans treated with imatinib: Imatinib Target Exploration Consortium Study B2225. J Clin Oncol (2005) 1.98

Fluorescence in situ hybridization for MDM2 gene amplification as a diagnostic tool in lipomatous neoplasms. Mod Pathol (2008) 1.95

Clonal evolution of resistance to imatinib in patients with metastatic gastrointestinal stromal tumors. Clin Cancer Res (2007) 1.94

TLE1 as a diagnostic immunohistochemical marker for synovial sarcoma emerging from gene expression profiling studies. Am J Surg Pathol (2007) 1.94

Terminal osteoblast differentiation, mediated by runx2 and p27KIP1, is disrupted in osteosarcoma. J Cell Biol (2004) 1.88

Characterization of the chromosomal translocation t(10;17)(q22;p13) in clear cell sarcoma of kidney. J Pathol (2012) 1.88

Antibody therapy targeting the CD47 protein is effective in a model of aggressive metastatic leiomyosarcoma. Proc Natl Acad Sci U S A (2012) 1.86

Efficacy and safety of regorafenib in patients with metastatic and/or unresectable GI stromal tumor after failure of imatinib and sunitinib: a multicenter phase II trial. J Clin Oncol (2012) 1.84

Cyclin D1 as a diagnostic immunomarker for endometrial stromal sarcoma with YWHAE-FAM22 rearrangement. Am J Surg Pathol (2012) 1.83

Mechanisms of oncogenic KIT signal transduction in primary gastrointestinal stromal tumors (GISTs). Oncogene (2004) 1.82

Overexpression, amplification, and androgen regulation of TPD52 in prostate cancer. Cancer Res (2004) 1.82

USP6 and CDH11 oncogenes identify the neoplastic cell in primary aneurysmal bone cysts and are absent in so-called secondary aneurysmal bone cysts. Am J Pathol (2004) 1.82

Soft tissue sarcomas of adults: state of the translational science. Clin Cancer Res (2003) 1.81

PKC412 inhibits the zinc finger 198-fibroblast growth factor receptor 1 fusion tyrosine kinase and is active in treatment of stem cell myeloproliferative disorder. Proc Natl Acad Sci U S A (2004) 1.81

Identification of a disease-defining gene fusion in epithelioid hemangioendothelioma. Sci Transl Med (2011) 1.79

Targeted therapy in breast cancer: the HER-2/neu gene and protein. Mol Cell Proteomics (2004) 1.76

Imatinib targeting of KIT-mutant oncoprotein in melanoma. Clin Cancer Res (2008) 1.73

Cloning of an Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation. Proc Natl Acad Sci U S A (2003) 1.73

Absence of BRAF and NRAS mutations in uveal melanoma. Cancer Res (2003) 1.70

Angiosarcoma involving the gastrointestinal tract: a series of primary and metastatic cases. Am J Surg Pathol (2004) 1.65

USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst. Cancer Res (2004) 1.64

Kikuchi's disease: case report and systematic review of cutaneous and histopathologic presentations. J Am Acad Dermatol (2008) 1.60

Kitlow stem cells cause resistance to Kit/platelet-derived growth factor alpha inhibitors in murine gastrointestinal stromal tumors. Gastroenterology (2010) 1.60

Effects of tyrosine kinase inhibitor STI571 on human mast cells bearing wild-type or mutated c-kit. Exp Hematol (2003) 1.55

14-3-3 fusion oncogenes in high-grade endometrial stromal sarcoma. Proc Natl Acad Sci U S A (2012) 1.51

NCCN Task Force report: optimal management of patients with gastrointestinal stromal tumor (GIST)--expansion and update of NCCN clinical practice guidelines. J Natl Compr Canc Netw (2004) 1.50

Gene expression patterns and gene copy number changes in dermatofibrosarcoma protuberans. Am J Pathol (2003) 1.49

Imatinib mesylate in advanced dermatofibrosarcoma protuberans: pooled analysis of two phase II clinical trials. J Clin Oncol (2010) 1.48

Use of positron emission tomography in localized extremity soft tissue sarcoma treated with neoadjuvant chemotherapy. Cancer (2005) 1.46

Pediatric KIT wild-type and platelet-derived growth factor receptor alpha-wild-type gastrointestinal stromal tumors share KIT activation but not mechanisms of genetic progression with adult gastrointestinal stromal tumors. Cancer Res (2007) 1.43

A novel biomarker for staging human prostate adenocarcinoma: overexpression of matriptase with concomitant loss of its inhibitor, hepatocyte growth factor activator inhibitor-1. Cancer Epidemiol Biomarkers Prev (2006) 1.41

Oncogenic MITF dysregulation in clear cell sarcoma: defining the MiT family of human cancers. Cancer Cell (2006) 1.41

Sox10: a pan-schwannian and melanocytic marker. Am J Surg Pathol (2008) 1.39

Credentialing a preclinical mouse model of alveolar rhabdomyosarcoma. Cancer Res (2009) 1.37

KIT mutations are common in testicular seminomas. Am J Pathol (2004) 1.36

KIT mutations in GIST. Curr Opin Genet Dev (2007) 1.33

Phase II, open-label study evaluating the activity of imatinib in treating life-threatening malignancies known to be associated with imatinib-sensitive tyrosine kinases. Clin Cancer Res (2008) 1.33

Nodular fasciitis of the head and neck region: a clinicopathologic description in a series of 30 cases. J Cutan Pathol (2009) 1.32

Discovery of a small-molecule type II inhibitor of wild-type and gatekeeper mutants of BCR-ABL, PDGFRalpha, Kit, and Src kinases: novel type II inhibitor of gatekeeper mutants. Blood (2010) 1.32

Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis. Gastroenterology (2005) 1.32

Constitutive activation of insulin receptor substrate 1 is a frequent event in human tumors: therapeutic implications. Cancer Res (2002) 1.32

Gastrointestinal stromal tumors (GISTs) with KIT and PDGFRA mutations have distinct gene expression profiles. Oncogene (2004) 1.30

SirT1 modulates the estrogen-insulin-like growth factor-1 signaling for postnatal development of mammary gland in mice. Breast Cancer Res (2007) 1.30

Genome-wide transcriptome analyses reveal p53 inactivation mediated loss of miR-34a expression in malignant peripheral nerve sheath tumours. J Pathol (2010) 1.29

Chemoprevention of skin cancer by grape constituent resveratrol: relevance to human disease? FASEB J (2005) 1.28

Induction of autophagy and inhibition of melanoma growth in vitro and in vivo by hyperactivation of oncogenic BRAF. J Invest Dermatol (2010) 1.27

Histone H2AX is a mediator of gastrointestinal stromal tumor cell apoptosis following treatment with imatinib mesylate. Cancer Res (2007) 1.27

c-Jun amplification and overexpression are oncogenic in liposarcoma but not always sufficient to inhibit the adipocytic differentiation programme. J Pathol (2009) 1.26

Distinctive cytogenetic profile in benign metastasizing leiomyoma: pathogenetic implications. Am J Surg Pathol (2007) 1.25

Tumor suppressor genes in breast cancer: the gatekeepers and the caretakers. Am J Clin Pathol (2005) 1.25

Differential expression of S100 protein subtypes in malignant melanoma, and benign and malignant peripheral nerve sheath tumors. J Cutan Pathol (2008) 1.24

ALK rearrangement in sickle cell trait-associated renal medullary carcinoma. Genes Chromosomes Cancer (2010) 1.24

The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcoma. Genes Chromosomes Cancer (2004) 1.24

Gastrointestinal stromal tumor: advances in diagnosis and management. Arch Pathol Lab Med (2011) 1.23