Research Topics
Genomes and Genes
Species | Jonathan A FletcherSummaryAffiliation: Massachusetts General Hospital Country: USA Publications
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Detail Information
Publications
KIT mutations in GISTJonathan A Fletcher
Brigham and Women s Hospital, 75 Francis Street, Thorn 5, Boston, MA 02115, USA
Curr Opin Genet Dev 17:3-7. 2007..Alternately, the mutant kinase proteins can be targeted using HSP90 inhibitors, which result in degradation of activated KIT and/or PDGFRA, or using KIT transcriptional repressors, such as flavopiridol...
USP6 and CDH11 oncogenes identify the neoplastic cell in primary aneurysmal bone cysts and are absent in so-called secondary aneurysmal bone cystsAndre M Oliveira
Department of Pathology, Brigham and Women s Hospital, 75 Francis Street, Boston, MA 02115, USA
Am J Pathol 165:1773-80. 2004..By contrast, secondary ABC lack CDH11 and USP6 rearrangements, and although morphological mimics of primary ABC, appear to represent a non-specific morphological pattern of a diverse group of non-ABC neoplasms...- Protein Kinase C theta (PKCtheta) expression and constitutive activation in gastrointestinal stromal tumors (GISTs)Anette Duensing
Department of Pathology, Brigham and Women s Hospital, 75 Francis Street, Boston, MA 02115, USA
Cancer Res 64:5127-31. 2004..PKCtheta is strongly activated in most GISTs and hence may serve, along with KIT/PDGFRA, as a novel therapeutic target... - Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genesAndre M Oliveira
Department of Pathology, Brigham and Women s Hospital, Boston, MA 02115, USA
Oncogene 24:3419-26. 2005..In summary, these studies show that USP6 oncogenic activation results from heterogeneous genomic mechanisms involving USP6 transcriptional upregulation by juxtaposition with ectopic promoters... - KIT-negative gastrointestinal stromal tumors: proof of concept and therapeutic implicationsFabiola Medeiros
Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA
Am J Surg Pathol 28:889-94. 2004..Notably, some KIT-negative GISTs contain imatinib-sensitive KIT or PDGFRA mutations; therefore, patients with KIT-negative GISTs should not, a priori, be denied imatinib therapy... - Molecular target modulation, imaging, and clinical evaluation of gastrointestinal stromal tumor patients treated with sunitinib malate after imatinib failureGeorge D Demetri
Center for Sarcoma and Bone Oncology, Ludwig Center at Dana Farber Harvard Cancer Center, Dana Farber Cancer Institute, Boston, MA 02115, USA
Clin Cancer Res 15:5902-9. 2009.... 
Imatinib targeting of KIT-mutant oncoprotein in melanomaXiaofeng Jiang
Department of Medical Oncology, Dana Farber Cancer Institute and Harvard Medical School, Boston, MA 02115, USA
Clin Cancer Res 14:7726-32. 2008..Biological effects of KIT inhibition in these melanomas remain poorly understood. We sought to investigate further the effects of imatinib in these melanoma subsets...- 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 trialSuzanne George
Center for Sarcoma and Bone Oncology, Dana Farber Cancer Institute D1212, 450 Brookline Ave, Boston, MA, USA
J Clin Oncol 30:2401-7. 2012.... - Clonal evolution of resistance to imatinib in patients with metastatic gastrointestinal stromal tumorsJayesh Desai
Dana Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts 02115, USA
Clin Cancer Res 13:5398-405. 2007..The objective of this study was to correlate molecular and radiologic patterns of imitinib-refractory disease with existing conventional criteria for disease progression... - Protein kinase C inhibitor AEB071 targets ocular melanoma harboring GNAQ mutations via effects on the PKC/Erk1/2 and PKC/NF-κB pathwaysXinQi Wu
Department of Medical Oncology, Melanoma Disease Center, Dana Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts 02215, USA
Mol Cancer Ther 11:1905-14. 2012..Targeted PKC inhibition with drugs such as AEB071 offers novel therapeutic potential for uveal melanoma harboring GNAQ mutations... - Reporting of diagnostic cytogenetic resultsAzra H Ligon
Brigham and Women s Hospital, Boston, Massachusetts, USA
Curr Protoc Hum Genet . 2011..Multi-specimen usage macros are included that can be applied to two or more specimen types... - Midline carcinoma of children and young adults with NUT rearrangementChristopher A French
Department of Pathology, Brigham and Women s Hospital, 75 Francis St, Boston, MA 02115, USA
J Clin Oncol 22:4135-9. 2004..We sought to amass a more definitive series of tumors with NUT and/or BRD4 gene rearrangements and to determine distinct clinicopathologic features... - Familial gastrointestinal stromal tumor syndrome: phenotypic and molecular features in a kindredFrederick P Li
Dana Farber Cancer Institute, 44 Binney St, Boston, MA 02115, USA
J Clin Oncol 23:2735-43. 2005..A tumor from the proband was analyzed to compare features with sporadic GISTs... - Reporting of diagnostic cytogenetic resultsAzra H Ligon
Brigham and Women s Hospital, Boston, Massachusetts, USA
Curr Protoc Hum Genet . 2010..Multi-specimen usage macros are included that can be applied to two or more specimen types... - USP6 (Tre2) fusion oncogenes in aneurysmal bone cystAndre M Oliveira
Department of Pathology, Brigham and Women s Hospital, 75 Francis Street, Boston, MA 02115, USA
Cancer Res 64:1920-3. 2004..CDH11 is expressed strongly in bone, and our findings implicate a novel oncogenic mechanism in which deregulated USP6 transcription results from juxtaposition to the highly active CDH11 promoter... - Absence of BRAF, NRAS, KRAS, HRAS mutations, and RET/PTC gene rearrangements distinguishes dominant nodules in Hashimoto thyroiditis from papillary thyroid carcinomasPeter M Sadow
Pathology Service, WRN219, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA
Endocr Pathol 21:73-9. 2010.... - Identification of chromosomal aberrations associated with disease progression and a novel 3q13.31 deletion involving LSAMP gene in osteosarcomaChueh Chuan Yen
Department of Pathology, Brigham and Women s Hospital, Boston, MA 02115, USA
Int J Oncol 35:775-88. 2009..The study also demonstrated that CN and LOH analyses were able to detect distinct subsets of genetic abnormalities in OS... - Targeted inhibition of multiple receptor tyrosine kinases in mesotheliomaWen bin Ou
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Neoplasia 13:12-22. 2011..These compelling proapoptotic and antiproliferative responses indicate that HSP90 inhibition warrants clinical evaluation as a novel therapeutic strategy in mesothelioma... - Biology of gastrointestinal stromal tumors: KIT mutations and beyondAnette Duensing
Department of Pathology, Brigham and Women's Hospital, 75 Francis St, Boston, MA 02115, USA
Cancer Invest 22:106-16. 2004..This review focuses on the biological and molecular genetic principles of GISTs, and particularly the role of mutant KIT as a therapeutic target... - Mechanisms of oncogenic KIT signal transduction in primary gastrointestinal stromal tumors (GISTs)Anette Duensing
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA
Oncogene 23:3999-4006. 2004.... - Role of KIT and platelet-derived growth factor receptors as oncoproteinsJonathan A Fletcher
Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA
Semin Oncol 31:4-11. 2004..For example, imatinib efficacy for malignancies arising from constitutively activating point mutations in tyrosine kinases depends on the exact location of the mutation in the kinase molecule... - Heat shock protein 90 inhibition in imatinib-resistant gastrointestinal stromal tumorSebastian Bauer
Department of Pathology, Brigham and Women's Hospital, Center for Sarcoma and Bone Oncology, Dana-Farber Cancer Institute, and Ludwig Center at Dana Farber/Harvard Cancer Center, Boston, Massachusetts 02115, USA
Cancer Res 66:9153-61. 2006..The dramatic inactivation of imatinib-resistant KIT oncoproteins suggests that HSP90 inhibition provides a therapeutic solution to the challenge of heterogeneous imatinib resistance mutations in GIST patients... - An in vitro cytologic assay for evaluation of the KIT signaling pathway in gastrointestinal stromal tumorsBrian S Chang
Department of Pathology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
Mod Pathol 20:579-83. 2007..Such approaches will be enhanced by the development of additional activation state-specific antibodies, particularly those optimized for use in cytologic preparations... - Molecular detection of PPAR gamma rearrangements and thyroid carcinoma in preoperative fine-needle aspiration biopsiesChristopher A French
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA, USA
Endocr Pathol 19:166-74. 2008..The application of specific mutations to preoperative diagnosis of thyroid carcinoma is predicted to improve the accuracy and reduce the costs of treating patients with thyroid tumors... - The clinicopathologic features of YWHAE-FAM22 endometrial stromal sarcomas: a histologically high-grade and clinically aggressive tumorCheng Han Lee
Department of Pathology, Brigham and Women s Hospital, Boston, MA, USA
Am J Surg Pathol 36:641-53. 2012..Thus, their distinction from typical JAZF1 ESS is important for prognostic and therapeutic purposes... - 14-3-3 fusion oncogenes in high-grade endometrial stromal sarcomaCheng Han Lee
Department of Pathology, Brigham and Women s Hospital, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 109:929-34. 2012..These discoveries reveal diagnostically and therapeutically relevant models for characterizing aberrant 14-3-3 oncogenic functions... - Gastrointestinal stromal tumorsBernadette Liegl-Atzwanger
Department of Pathology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA
Virchows Arch 456:111-27. 2010..This review focuses on GIST pathogenesis, morphologic evaluation, promising new immunohistochemical markers, risk assessment, the role of molecular analysis, and the increasing problem of secondary imatinib resistance and its mechanisms... - Strong expression of IGF1R in pediatric gastrointestinal stromal tumors without IGF1R genomic amplificationKatherine A Janeway
Department of Pediatric Hematology Oncology, Dana Farber Cancer Institute and Children s Hospital, Boston, MA 02115, USA
Int J Cancer 127:2718-22. 2010..Despite the absence of apparent genomic activation mechanisms accounting for overexpression, clinical study of IGF1R-directed therapies in pediatric WT GIST is warranted... - Profiling critical cancer gene mutations in clinical tumor samplesLaura E MacConaill
Center for Cancer Genome Discovery, Dana Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts, USA
PLoS ONE 4:e7887. 2009..We report the implementation of a genotyping and validation algorithm that enables robust tumor mutation profiling in the clinical setting... - Cloning of an Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocationIan J Davis
Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 100:6051-6. 2003..Alpha-TFEB is thus identified as a fusion gene in a subset of pediatric renal neoplasms... - Cytogenetics and fluorescence in situ hybridization as adjuncts to cytology in the diagnosis of malignant mesotheliomaRachel E Factor
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Cancer 117:247-53. 2009..In the current study, the authors investigated the value of karyotyping and fluorescence in situ hybridization (FISH) as adjuncts to conventional cytologic examination in patients with MM... - c-Jun amplification and overexpression are oncogenic in liposarcoma but not always sufficient to inhibit the adipocytic differentiation programmeEric L Snyder
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
J Pathol 218:292-300. 2009..Thus, c-Jun amplification is oncogenic in liposarcomas but not always sufficient for inhibition of adipocytic differentiation... - Oncogenic MITF dysregulation in clear cell sarcoma: defining the MiT family of human cancersIan J Davis
Melanoma Program in Medical Oncology, Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA
Cancer Cell 9:473-84. 2006..Seemingly unrelated tumors thus employ distinct strategies to oncogenically dysregulate the MiT family, collectively broadening the definition of MiT-associated human cancers... - Genomic and functional evidence for an ARID1A tumor suppressor roleJianmin Huang
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Genes Chromosomes Cancer 46:745-50. 2007..These studies provide strong evidence that ARID1A is a tumor suppressor gene. (c) 2007 Wiley-Liss, Inc... - BRAF in papillary thyroid carcinoma of ovary (struma ovarii)Jason Schmidt
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Am J Surg Pathol 31:1337-43. 2007..In this study, we explored the possible role of these genes in the development of BSO and MSO... - Distinctive cytogenetic profile in benign metastasizing leiomyoma: pathogenetic implicationsMarisa R Nucci
Department of Pathology, Divisions of Women s and Perinatal Pathology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA
Am J Surg Pathol 31:737-43. 2007.... - Osteofibrous dysplasia and adamantinoma in children and adolescents: a clinicopathologic reappraisalBriana C Gleason
Department of Pathology, Children s Hospital Boston, Boston, MA 02115, USA
Am J Surg Pathol 32:363-76. 2008..OFD, OFD-like adamantinoma, and classic adamantinoma appear to show a progressive complexity of cytogenetic aberrations, perhaps indicative of a multistep neoplastic transformation... - The role of chromosomal translocation (15;19) in the carcinoma of the upper aerodigestive tract in childrenReza Rahbar
Department of Otolaryngology, Children s Hospital, Boston, MA 02115, USA
Otolaryngol Head Neck Surg 129:698-704. 2003..To further evaluate the role of chromosomal translocation (15;19) in the presentation of the carcinoma (CA) of the upper aerodigestive tract... - Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutationsKatherine A Janeway
Department of Pediatric Hematology Oncology, Dana Farber Cancer Institute and Children s Hospital, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 108:314-8. 2011..Testing for germline mutations in SDH is recommended in patients with WT GIST. These findings highlight a potential central role of SDH dysregulation in WT GIST oncogenesis... - Prognostic value of KIT mutation type, mitotic activity, and histologic subtype in gastrointestinal stromal tumorsSamuel Singer
Department of Pathology and Surgery, Brigham and Women s Hospital, Boston, MA, USA
J Clin Oncol 20:3898-905. 2002..The aim of this study was to evaluate the prognostic relevance for KIT mutations in a series of GISTs in which the mutations were evaluated intensively by genomic and cDNA sequencing... - PKC412 inhibits the zinc finger 198-fibroblast growth factor receptor 1 fusion tyrosine kinase and is active in treatment of stem cell myeloproliferative disorderJing Chen
Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 101:14479-84. 2004..Therefore, PKC412 may be a useful therapy for treatment of human stem cell leukemia-lymphoma syndrome... - Reporting of diagnostic cytogenetic resultsAzra H Ligon
Brigham and Women's Hospital, Boston, Massachusetts, USA
Curr Protoc Hum Genet . 2004..Multi-specimen usage macros are included that can be applied to two or more specimen types... - Trisomy 18 is a consistent cytogenetic feature in pilomatricomaAgoston T Agoston
Department of Pathology, Children s Hospital, Boston, MA 02115, USA
Mod Pathol 23:1147-50. 2010.... - Genetic and biological subgroups of low-stage follicular thyroid cancerChristopher A French
Division of Endocrinology, Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA
Am J Pathol 162:1053-60. 2003..The findings support a model in which separate genetic alterations initiate distinct pathways of oncogenesis in thyroid carcinoma subtypes... - Cytogenetic aberrations in perineurioma: variation with subtypeJane E Brock
Department of Pathology, Children s Hospital and Harvard Medical School, Boston, MA 02115, USA
Am J Surg Pathol 29:1164-9. 2005..The findings also expand previous assertions that chromosome 22 abnormalities are pathogenetic in perineurioma and suggest that diverse genetic tumorigenic mechanisms may exist, possibly depending on the subtype... - Inhibition of FLT3 in MLL. Validation of a therapeutic target identified by gene expression based classificationScott A Armstrong
Dana Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA
Cancer Cell 3:173-83. 2003..Finally, we developed a mouse model of MLL and used bioluminescent imaging to determine that PKC412 is active against MLL in vivo... - ALK rearrangement in sickle cell trait-associated renal medullary carcinomaAdrian Mariño-Enríquez
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston 02115, MA, USA
Genes Chromosomes Cancer 50:146-53. 2011..This report widens the spectrum of ALK-related tumors and ALK fusion partners, and provides a rationale for treating RMC with targeted ALK inhibitors... - Overexpression, amplification, and androgen regulation of TPD52 in prostate cancerMark A Rubin
Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Cancer Res 64:3814-22. 2004..In summary, these findings suggest that dysregulation of TPD52 by genomic amplification and androgen induction may play a role in prostate cancer progression... - Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumorsGeorge D Demetri
Dana-Farber Cancer Institute and Harvard Cancer Center, Boston, MA 02115, USA
N Engl J Med 347:472-80. 2002..Inhibition of the KIT signal-transduction pathway is a promising treatment for advanced gastrointestinal stromal tumors, which resist conventional chemotherapy... - PPARgamma ligands inhibit primary tumor growth and metastasis by inhibiting angiogenesisDipak Panigrahy
Surgical Research Laboratory, Children's Hospital, Department of Surgery, Harvard Medical School, Boston, Massachusetts, USA
J Clin Invest 110:923-32. 2002..These results suggest that PPARgamma ligands may be useful in treating angiogenic diseases such as cancer by inhibiting angiogenesis... - Cavernous sinus and leptomeningeal metastases arising from a squamous cell carcinoma of the face: case reportJay-Jiguang Zhu
Division of Neurology, Caritas St. Elizabeth's Medical Center, Tufts University School of Medicine, 736 Cambridge Street, Boston, MA 02135, USA
Neurosurgery 54:492-8; discussion 498-9. 2004..Biomarkers predicting aggressive SCC behavior, illustrated here by epidermal growth factor receptor amplification and central invasion, have the potential to guide early therapy... - Molecular biology and cytogenetics of soft tissue sarcomas: relevance for targeted therapiesJonathan A Fletcher
Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA
Cancer Treat Res 120:99-116. 2004 - BRD4-NUT fusion oncogene: a novel mechanism in aggressive carcinomaChristopher A French
Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Cancer Res 63:304-7. 2003..Very few fusion oncogenes have been identified in epithelial tumors, and BRD4-NUT is the first fusion oncogene mechanism identified in a highly lethal form of carcinoma... - CHIPing soft tissue tumors: will the paradigms be changed?Andre M Oliveira
Department of Pathology, Brigham and Women s Hospital, 75 Francis Street, Boston, MA 02115, USA
Adv Anat Pathol 10:1-7. 2003 - Constitutive activation of insulin receptor substrate 1 is a frequent event in human tumors: therapeutic implicationsQing Chang
Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Cancer Res 62:6035-8. 2002..These studies suggest that constitutive IRS-1 activation is a common phenomenon in tumors and that activated IRS-1 may present an attractive therapeutic target... - Chromogenic in situ hybridization and FISH in pathologyBae-Li Hsi
Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA
Methods Mol Biol 204:343-51. 2002 - Histone H2AX is a mediator of gastrointestinal stromal tumor cell apoptosis following treatment with imatinib mesylateYing Liu
Molecular Virology Program, University of Pittsburgh Cancer Institute, Pennsylvania 15213, USA
Cancer Res 67:2685-92. 2007..Our results underscore the importance of H2AX as a human tumor suppressor protein, provide mechanistic insights into imatinib-induced tumor cell apoptosis and establish H2AX as a novel target in cancer therapy... - KIT gene deletions at the intron 10-exon 11 boundary in GI stromal tumorsChristopher L Corless
Department of Pathology, Oregon Health and Science University Cancer Institute, Portland, OR 97239, USA
J Mol Diagn 6:366-70. 2004..Laboratories that offer clinical screening for KIT mutations in GI stromal tumors should be aware of this class of mutations... - Imatinib mesylate: an attractive alternative in young children with large, surgically challenging dermatofibrosarcoma protuberansVictoria E Price
Department of Pediatrics, Division Hematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Canada
Pediatr Blood Cancer 44:511-5. 2005..The drug was tolerated well without any adverse reactions. Imatinib mesylate offers a non-surgical alternative for the treatment of large DFSP in children... - Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcomaIoannis Panagopoulos
Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
Genes Chromosomes Cancer 35:340-52. 2002.... - Testing for KIT (CD117) in gastrointestinal stromal tumors: another HercepTest?Christopher D M Fletcher
Appl Immunohistochem Mol Morphol 10:197-8. 2002 - Peripheral nerve sheath tumors from patients with neurofibromatosis type 1 do not have the chromosomal translocation t(X;18)Michael A Liew
Department of Pediatrics, Division of Medical Genetics, University of Utah, 50 North Medical Drive, Salt Lake City, UT 84132, USA
Pediatr Dev Pathol 5:165-9. 2002..The results indicate that the t(X;18) translocation is absent in neurofibromas and is not a marker for MPNST in patients with NF1... - KIT mutations are common in testicular seminomasKathleen Kemmer
Division of Hematology and Oncology, Oregon Health and Science University Cancer Institute and Portland Veterans Affairs Medical Center, Portland, Oregon 97239, USA
Am J Pathol 164:305-13. 2004..These findings suggest that activating KIT mutations may contribute to tumorigenesis in a subset of seminomas, but are not involved in NSGCT... - Biology of gastrointestinal stromal tumorsChristopher L Corless
Oregon Health and Science University Cancer Institute, Department of Pathology, Portland, OR, USA
J Clin Oncol 22:3813-25. 2004..In addition, the role of mutation screening in KIT and PDGFRA as a diagnostic and prognostic aid is emphasized in this review... - Gastrointestinal stromal tumors (GISTs) with KIT and PDGFRA mutations have distinct gene expression profilesSubbaya Subramanian
Department of Pathology, Stanford University Medical Center, Stanford, CA 94305, USA
Oncogene 23:7780-90. 2004..These gene products could serve as highly selective therapeutic targets in GISTs containing the KIT or PDGFRA mutational types with which they are associated... - Targeted therapy in breast cancer: the HER-2/neu gene and proteinJeffrey S Ross
Department of Pathology and Laboratory Medicine, Albany Medical College, Albany, NY 12208, USA
Mol Cell Proteomics 3:379-98. 2004..The review will also evaluate the status of serum-based testing for circulating HER-2/neu receptor protein and its ability to predict disease outcome and therapy response... - Activation of the GLI oncogene through fusion with the beta-actin gene (ACTB) in a group of distinctive pericytic neoplasms: pericytoma with t(7;12)Anna Dahlén
Department of Clinical Genetics, University Hospital, Lund, Sweden
Am J Pathol 164:1645-53. 2004.... - Biology and genetic aspects of gastrointestinal stromal tumors: KIT activation and cytogenetic alterationsMichael C Heinrich
Department of Medicine, Division of Hematology/Oncology, Oregon Health Sciences University and Portland VA Medical Center, USA
Hum Pathol 33:484-95. 2002..These cytogenetic aberrations are undoubtedly important in GIST pathogenesis, but currently they do not play a key role as diagnostic adjuncts... - Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumorMichael C Heinrich
R and D 19 3710 SW US Veterans Hospital Rd, Portland, OR 97207, USA
J Clin Oncol 21:4342-9. 2003..The relationship between mutations in these kinases and clinical response to imatinib was examined in a group of patients with advanced GIST... - PDGFRA activating mutations in gastrointestinal stromal tumorsMichael C Heinrich
Department of Medicine, Department of Pathology, Oregon Health and Science University Cancer Institute and Portland VA Medical Center, Portland, OR 97201, USA
Science 299:708-10. 2003..Thus, KIT and PDGFRA mutations appear to be alternative and mutually exclusive oncogenic mechanisms in GISTs... - Phase II, open-label study evaluating the activity of imatinib in treating life-threatening malignancies known to be associated with imatinib-sensitive tyrosine kinasesMichael C Heinrich
Department of Hematology and Medical Oncology, Oregon Health and Science University Cancer Institute and Portland VA Medical Center, Portland, Oregon 97239 3098, USA
Clin Cancer Res 14:2717-25. 2008..To evaluate the activity of imatinib in treating advanced, life-threatening malignancies expressing one or more imatinib-sensitive tyrosine kinases... - Molecular and clinical analysis of locally advanced dermatofibrosarcoma protuberans treated with imatinib: Imatinib Target Exploration Consortium Study B2225Grant A McArthur
Peter MacCallum Cancer Centre, East Melbourne, Australia
J Clin Oncol 23:866-73. 2005..The purpose of this study was to evaluate molecular, cytogenetic, and kinase activation profiles in a series of DFSPs and to determine whether these biologic parameters are correlated with the clinical responses of DFSP to imatinib... - Soft tissue sarcomas of adults: state of the translational scienceErnest C Borden
The Cleveland Clinic Foundation, Cleveland, Ohio, 44195, USA
Clin Cancer Res 9:1941-56. 2003..Finally, multicenter, coordinated trials, such as those that occurred with assessment of imatinib mesylate in metastatic gastrointestinal stromal tumors, will assure the most rapid reductions in morbidity and mortality... - 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 tumorsKatherine A Janeway
Department of Medicine, Children s Hospital Boston, MA, USA
Cancer Res 67:9084-8. 2007..KIT activation levels in pediatric KIT-wild-type GISTs are comparable with those in KIT-mutant GISTs. Therapies that inhibit KIT activation, or crucial KIT signaling intermediates, should be explored in pediatric KIT-wild-type GIST... - Genetics of soft tissue tumorsMatt van de Rijn
Department of Pathology, Stanford University Medical Center, Stanford, California 94305, USA
Annu Rev Pathol 1:435-66. 2006..Here we describe the known molecular changes in a number of sarcomas and focus on novel scientific approaches that can be expected to lead to improved diagnosis, prognostication, and therapy of sarcoma... - 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 KITCharles D Blanke
Oregon Health and Science University Cancer Center and Portland Veterans Affairs Hospital, Portland, OR, USA
J Clin Oncol 26:620-5. 2008..We conducted a long-term analysis of patients treated on the trial, including patients followed during an extension phase, to evaluate survival, patterns of failure, and potential prognostic factors, including tumor mutational status... - Molecular correlates of imatinib resistance in gastrointestinal stromal tumorsMichael C Heinrich
Division of Hematology Oncology, Department of Pathology, Oregon Health and Science University Cancer Institute, Oregon Health and Science University, Portland, OR, USA
J Clin Oncol 24:4764-74. 2006..In clinical studies, 75% to 90% of patients with advanced GISTs experience clinical benefit from imatinib. However, imatinib resistance is an increasing clinical problem... - Clinical and molecular studies of the effect of imatinib on advanced aggressive fibromatosis (desmoid tumor)Michael C Heinrich
Oregon Health and Science University Cancer Institute and Portland VA Medical Center, Portland, OR, USA
J Clin Oncol 24:1195-203. 2006..To determine the clinical efficacy of imatinib in patients with advanced aggressive fibromatosis (AF) and to identify the molecular basis of response/nonresponse to this agent... - The Her-2/neu gene and protein in breast cancer 2003: biomarker and target of therapyJeffrey S Ross
Department of Pathology and Laboratory Medicine, Albany Medical College, Albany, New York 12208, USA
Oncologist 8:307-25. 2003..The review also evaluates the status of serum-based testing for circulating HER-2/neu receptor protein and its ability to predict disease outcome and therapy response... - Sustained complete remission of metastatic dermatofibrosarcoma protuberans with imatinib mesylateStefanos V Labropoulos
First Department of Medical Oncology, Hygeia Hospital, Marousi, Greece
Anticancer Drugs 16:461-6. 2005..We conclude that sustained complete remission of metastatic DFSP with specific FISH abnormalities involving the PDGFB locus can be obtained with imatinib mesylate with minimal toxicity for the patient... - Gonadotropic pituitary carcinoma: HER-2/neu expression and gene amplification. Report of two casesFederico Roncaroli
Department of Oncology, Bellaria Hospital, Bologna, Italy
J Neurosurg 99:402-8. 2003..Further studies are needed to determine whether HER-2/neu plays a role in the pathogenesis of pituitary carcinoma... - Cytogenetic and p53 profiles in congenital cystic adenomatoid malformation: insights into its relationship with pleuropulmonary blastomaSara O Vargas
Department of Pathology, Children s Hospital Boston, and Department of Pathology, Harvard Medical School, MA, USA
Pediatr Dev Pathol 9:190-5. 2006..Overall, these findings provide evidence that CCAM is nonneoplastic. Although some may view CCAM as a PPB precursor, it remains biologically distinct in terms of karyotype and p53 status... - HER-2/neu testing in breast cancerJeffrey S Ross
Department of Pathology and Laboratory Medicine, Albany Medical College, NY 12208, USA
Am J Clin Pathol 120:S53-71. 2003.... - Detection by the fluorescence in situ hybridization technique of MYC translocations in paraffin-embedded lymphoma biopsy samplesEugenia Haralambieva
Leukaemia Research Fund Immunodiagnostics Unit, Nuffield Department of Clinical Laboratory Sciences, John Radcliffe Hospital, Oxford OX3 9DU, UK
Br J Haematol 121:49-56. 2003.... - KIT gene mutations in gastrointestinal stromal tumors: more complex than previously recognized?Jonathan A Fletcher
Am J Pathol 161:737-8; author reply 738-9. 2002 - The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcomaIoannis Panagopoulos
Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
Genes Chromosomes Cancer 40:218-28. 2004..The results indicated that FUS/CREB3L2 is specifically associated with LGFMS and that RT-PCR or FISH analysis may be useful for the differential diagnosis...