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Genomes and GenesSpecies | M LadanyiSummaryAffiliation: Memorial Sloan-Kettering Cancer Center Country: USA Publications
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Publications
EWS-CREB1: a recurrent variant fusion in clear cell sarcoma--association with gastrointestinal location and absence of melanocytic differentiationCristina R Antonescu
Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, and Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA
Clin Cancer Res 12:5356-62. 2006..Thus, evidence of melanocytic lineage or differentiation is not a necessary feature of sarcomas with gene fusions involving CREB family members...
CRKL as a lung cancer oncogene and mediator of acquired resistance to EGFR inhibitors: is it all that it is cracked up to be?Marc Ladanyi
Department of Pathology and Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA
Cancer Discov 1:560-1. 2011..In addition, they show that CRKL amplification may be another mechanism for primary or acquired resistance to epidermal growth factor receptor kinase inhibitors...
Genome-wide array comparative genomic hybridization analysis reveals distinct amplifications in osteosarcomaTsz Kwong Man
Texas Children s Cancer Center, Baylor College of Medicine, Houston, TX, USA
BMC Cancer 4:45. 2004..Therefore, a better understanding of the underlying molecular genetic events leading to tumor initiation and progression could result in the identification of potential diagnostic and therapeutic targets...
Fusions of the SYT and SSX genes in synovial sarcomaM Ladanyi
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Oncogene 20:5755-62. 2001....
Implications of P16/CDKN2A deletion in pleural mesotheliomasMarc Ladanyi
Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA
Lung Cancer 49:S95-8. 2005....
Targeted therapy of cancer: new roles for pathologistsMarc Ladanyi
Department of Pathology and Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, NY, USA
Mod Pathol 21:S1. 2008
Cancer biology and genomics: translating discoveries, transforming pathologyMarc Ladanyi
Department of Pathology, and Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
J Pathol 223:99-101. 2011..These recent developments, as reviewed in this issue, show how the long-term investments in basic cancer research are finally beginning to bear fruit...
Impact of SYT-SSX fusion type on the clinical behavior of synovial sarcoma: a multi-institutional retrospective study of 243 patientsMarc Ladanyi
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
Cancer Res 62:135-40. 2002..In addition, the associations of SYT-SSX fusion type with patient sex and tumor epithelial differentiation point to interesting mechanistic biological differences...
Lung adenocarcinoma: guiding EGFR-targeted therapy and beyondMarc Ladanyi
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
Mod Pathol 21:S16-22. 2008....
EWS-FLI1 and Ewing's sarcoma: recent molecular data and new insightsMarc Ladanyi
Dept of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
Cancer Biol Ther 1:330-6. 2002....
Clinical, pathologic, and molecular spectrum of tumors associated with t(11;22)(p13;q12): desmoplastic small round-cell tumor and its variantsW L Gerald
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
J Clin Oncol 16:3028-36. 1998..We reviewed 109 cases of DSRCT to further characterize this entity better...
Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescentsP Argani
Department of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland 21231 2410, USA
Am J Pathol 159:179-92. 2001..Finally, the finding of distinctive tumors being associated with balanced and unbalanced forms of the same translocation is to our knowledge, unprecedented...
MET amplification occurs with or without T790M mutations in EGFR mutant lung tumors with acquired resistance to gefitinib or erlotinibJames Bean
Human Oncology and Pathogenesis Program, Department of Neurosurgery, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Proc Natl Acad Sci U S A 104:20932-7. 2007..Taken together, these data suggest that MET amplification occurs independently of EGFR(T790M) mutations and that MET may be a clinically relevant therapeutic target for some patients with acquired resistance to gefitinib or erlotinib...
Novel D761Y and common secondary T790M mutations in epidermal growth factor receptor-mutant lung adenocarcinomas with acquired resistance to kinase inhibitorsMarissa N Balak
Human Oncology and Pathogenesis Program, Thoracic Oncology Service, Varmus Lab, Department of Pathology, Memorial Sloan-Kettering Cancer Center, Weill Medical College of Cornell University, New York, New York 10021, USA
Clin Cancer Res 12:6494-501. 2006..Collectively, our data suggest that the type and nature of kinase inhibitor resistance mutations may be influenced by both anatomic site and mode of binding to the kinase target...
Clinically critical impact of molecular genetic studies in pediatric solid tumorsB H Kushner
Department of Human Genetics, Pathology, Pediatrics, and Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Med Pediatr Oncol 33:530-5. 1999..We present cases depicting the importance of including molecular diagnostic studies in the routine evaluation of pediatric solid tumors...
Rearrangement in the coding region of the MYCN gene in a subset of amplicons in a case of neuroblastoma with MYCN amplificationB Chen
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
Diagn Mol Pathol 10:100-4. 2001..Monochromosomal somatic cell hybrid mapping of the novel region fused to exon 2 of MYCN localized it to chromosome 2, suggesting that this rearrangement resulted from an interstitial deletion, presumably within the MYCN amplicon itself...
Use of epidermal growth factor receptor/Kirsten rat sarcoma 2 viral oncogene homolog mutation testing to define clonal relationships among multiple lung adenocarcinomas: comparison with clinical guidelinesNicolas Girard
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Chest 137:46-52. 2010..Here, we report on seven patients in whom epidermal growth factor receptor (EGFR) and Kirsten-rat sarcoma 2 viral oncogene homolog (KRAS) tumor mutation status was used to determine clonal relationships among multiple lung lesions...
Fusion of the ALK gene to the clathrin heavy chain gene, CLTC, in inflammatory myofibroblastic tumorJ A Bridge
Department of Pathology, Center for Human Molecular Genetics, 983135 University of Nebraska Medical Center, Omaha, NE 68198, USA
Am J Pathol 159:411-5. 2001..One of these cases exhibited a 2;17 translocation in addition to other karyotypic anomalies [46,XX,t(2;17)(p23;q23),add(16)(q24)]...
Acquired resistance to epidermal growth factor receptor kinase inhibitors associated with a novel T854A mutation in a patient with EGFR-mutant lung adenocarcinomaJames Bean
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Clin Cancer Res 14:7519-25. 2008..We aimed to identify additional second-site alterations associated with acquired resistance...
High expression levels of total IGF-1R and sensitivity of NSCLC cells in vitro to an anti-IGF-1R antibody (R1507)Yixuan Gong
Pao Laboratory, Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York, United States of America
PLoS ONE 4:e7273. 2009..The IGF receptor type 1 (IGF-1R) pathway is frequently deregulated in human tumors and has become a target of interest for anti-cancer therapy...
EGFR gene amplification in breast cancer: correlation with epidermal growth factor receptor mRNA and protein expression and HER-2 status and absence of EGFR-activating mutationsRohit Bhargava
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Mod Pathol 18:1027-33. 2005..Approximately 6% of breast carcinomas show EGFR amplification with EGFR protein overexpression and may be candidates for trials of EGFR-targeted antibodies or small inhibitory molecules...
Synovial sarcoma mimicking desmoplastic small round-cell tumor: critical role for molecular diagnosisP Cole
Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
Med Pediatr Oncol 32:97-101. 1999..One alternative involves immunologic attack against markers derived from tumor-specific chromosomal defects such as those found in our patient...
Core needle lung biopsy specimens: adequacy for EGFR and KRAS mutational analysisStephen B Solomon
Department of Radiology, Memorial Sloan Kettering Cancer Center, 1275 York Ave, Howard 118, New York, NY 10021, USA
AJR Am J Roentgenol 194:266-9. 2010....
Prognostic and therapeutic implications of EGFR and KRAS mutations in resected lung adenocarcinomaJenifer L Marks
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
J Thorac Oncol 3:111-6. 2008..Whether EGFR and KRAS mutations also have an impact on survival in patients who undergo lung resection for curative intent in the absence of targeted therapy has not been established...
Clinical course of patients with non-small cell lung cancer and epidermal growth factor receptor exon 19 and exon 21 mutations treated with gefitinib or erlotinibGregory J Riely
Thoracic Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Clin Cancer Res 12:839-44. 2006..We undertook this study to explore the relationship between EGFR mutation type and clinical variables, including treatment with gefitinib and erlotinib...
KRAS mutational testing in the selection of patients for EGFR-targeted therapiesJoaquin Garcia
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA
Semin Diagn Pathol 25:288-94. 2008....
Leukemic differentiation of a mediastinal germ cell tumorR S Chaganti
Laboratory of Cancer Genetics and Cytogenetics, Sloan Kettering Institute, New York, New York
Genes Chromosomes Cancer 1:83-7. 1989....
Prognostic impact of P53 status, TLS-CHOP fusion transcript structure, and histological grade in myxoid liposarcoma: a molecular and clinicopathologic study of 82 casesC R Antonescu
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Clin Cancer Res 7:3977-87. 2001..We also analyzed P53 status, because this parameter has been found to have a significant prognostic impact in other sarcomas with chromosomal translocations...
The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25M Ladanyi
Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY 10021, USA
Oncogene 20:48-57. 2001..Oncogene (2001) 20, 48 - 57...
Cytogenetic and molecular analysis of human male germ cell tumors: chromosome 12 abnormalities and gene amplificationF Samaniego
Laboratory of Cancer Genetics, Sloan Kettering Institute, New York, New York
Genes Chromosomes Cancer 1:289-300. 1990..This study comprises the largest series of GCT cytogenetics attempted so far. Notably, it includes data on a series of primary mediastinal tumors, a group which previously has not been studied in any detail...
An integrated genomic analysis of lung cancer reveals loss of DUSP4 in EGFR-mutant tumorsD Chitale
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
Oncogene 28:2773-83. 2009....
Use of cigarette-smoking history to estimate the likelihood of mutations in epidermal growth factor receptor gene exons 19 and 21 in lung adenocarcinomasDuyKhanh Pham
Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA
J Clin Oncol 24:1700-4. 2006..Investigators have reported an association between EGFR mutations and the amount and duration of cigarette smoking, with the highest incidence of mutations seen in never smokers...
Global gene expression profiling of pleural mesotheliomas: overexpression of aurora kinases and P16/CDKN2A deletion as prognostic factors and critical evaluation of microarray-based prognostic predictionFernando Lopez-Rios
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
Cancer Res 66:2970-9. 2006..Gene expression profiling of mesotheliomas is an important discovery tool, but its power in clinical prognostication has been overestimated...
Genomic and biological characterization of exon 4 KRAS mutations in human cancerManickam Janakiraman
Departments of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA
Cancer Res 70:5901-11. 2010..These results also provide a rationale for broader KRAS testing beyond the most common hotspot alleles in exons 2 and 3...
Analysis of genetic variants in never-smokers with lung cancer facilitated by an Internet-based blood collection protocol: a preliminary reportNicolas Girard
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA
Clin Cancer Res 16:755-63. 2010..We hypothesized that we could use the Internet to bolster the accrual of appropriate patients...
Global gene expression profiling of PAX-FKHR fusion-positive alveolar and PAX-FKHR fusion-negative embryonal rhabdomyosarcomasM Lae
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
J Pathol 212:143-51. 2007..The gene expression signature of ARMS provides a source of potential diagnostic markers, therapeutic targets, and PAX-FKHR downstream genes, and can be used to reliably distinguish these sarcomas from ERMS...
HER-2 testing in breast cancer using immunohistochemical analysis and fluorescence in situ hybridization: a single-institution experience of 2,279 cases and comparison of dual-color and single-color scoringPriti Lal
Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA
Am J Clin Pathol 121:631-6. 2004..0-3.9); the clinical significance of these findings warrants further investigation...
SYT-SSX1 and SYT-SSX2 interfere with repression of E-cadherin by snail and slug: a potential mechanism for aberrant mesenchymal to epithelial transition in human synovial sarcomaTsuyoshi Saito
Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA
Cancer Res 66:6919-27. 2006....
PRCC-TFE3 renal carcinomas: morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21)Pedram Argani
Department of Pathology, Surgical Pathology, Johns Hopkins Hospital, Weinberg Building, Room 2242, 401 N Broadway, Baltimore, MD 21231 2410, USA
Am J Surg Pathol 26:1553-66. 2002..Aside from their distinctive clinicopathologic features described here, there is experimental evidence suggesting that these tumors may show differential sensitivity to certain chemotherapeutic agents...
Molecular diagnosis of clear cell sarcoma: detection of EWS-ATF1 and MITF-M transcripts and histopathological and ultrastructural analysis of 12 casesCristina R Antonescu
Department of Patholog, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA
J Mol Diagn 4:44-52. 2002..These data confirm that EWS-ATF1 detection can be used as a highly sensitive diagnostic test for CCS and that CCS expresses the melanocyte-specific form of the MITF transcript, further supporting its genuine melanocytic differentiation...
EGFR mutations in lung adenocarcinomas: clinical testing experience and relationship to EGFR gene copy number and immunohistochemical expressionAllan R Li
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
J Mol Diagn 10:242-8. 2008..Thus, these results indicate that EGFR amplification, preferentially of the mutant allele, often accompanies EGFR mutation, whereas EGFR immunohistochemical staining associates with amplification but cannot predict EGFR mutation status...
Rapid polymerase chain reaction-based detection of epidermal growth factor receptor gene mutations in lung adenocarcinomasQiulu Pan
Department of Pathology, Memorial Sloan-Kettering Cancer Center, 1275 York Ave, New York, NY 10021, USA
J Mol Diagn 7:396-403. 2005..These assays offer higher sensitivity and ease of scoring and eliminate the need for sequencing, providing a robust and accessible approach to the rapid identification of most lung cancer patients likely to respond to EGFR inhibitors...
Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinomaJenifer L Marks
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
Cancer Res 68:5524-8. 2008..MEK1 mutants have not previously been reported in lung cancer and may provide a target for effective therapy in a small subset of patients with lung adenocarcinoma...
Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignanciesSelvaraju Veeriah
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA
Nat Genet 42:77-82. 2010..These data strongly point to PARK2 as a tumor suppressor on 6q25.2-q27. Thus, PARK2, a gene that causes neuronal dysfunction when mutated in the germline, may instead contribute to oncogenesis when altered in non-neuronal somatic cells...
Genomic and mutational profiling to assess clonal relationships between multiple non-small cell lung cancersNicolas Girard
Pao Lab, Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
Clin Cancer Res 15:5184-90. 2009..Decisions are currently made using the Martini and Melamed criteria, which are mostly based on tumor location and histologic type. New genomic tools could improve the ability to assess tumor clonality...
Genetic predictors of MEK dependence in non-small cell lung cancerChristine A Pratilas
Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
Cancer Res 68:9375-83. 2008....
Renal carcinomas with the t(6;11)(p21;q12): clinicopathologic features and demonstration of the specific alpha-TFEB gene fusion by immunohistochemistry, RT-PCR, and DNA PCRPedram Argani
Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA
Am J Surg Pathol 29:230-40. 2005..Finally, the special molecular features of the Alpha-TFEB gene fusion allow its molecular detection by DNA PCR as a robust alternative to RT-PCR in clinical tumor samples...
Monophasic and biphasic synovial sarcomas abundantly express cancer/testis antigen NY-ESO-1 but not MAGE-A1 or CT7A A Jungbluth
Ludwig Institute for Cancer Research, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Int J Cancer 94:252-6. 2001..Our study shows that NY-ESO-1 is highly expressed in a homogeneous pattern in synovial sarcomas of both morphologic variants and both translocation types, making these tumors an attractive target for NY-ESO-1 antigen-based immunotherapy...
Mutational profile of advanced primary and metastatic radioactive iodine-refractory thyroid cancers reveals distinct pathogenetic roles for BRAF, PIK3CA, and AKT1Julio C Ricarte-Filho
Human Oncology and Pathogenesis Program and Departments of Medicine and Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA
Cancer Res 69:4885-93. 2009....
Glioneuronal tumor with neuropil-like islands (GTNI): a report of 8 cases with chromosome 1p/19q deletion analysisVioletta Barbashina
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Am J Surg Pathol 31:1196-202. 2007..Although GTNI shares some morphologic features with recently reported cases of oligodendroglioma with neurocytic differentiation, the 2 tumors appear different at the molecular genetic level...
Melanotic Xp11 translocation renal cancers: a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanomaPedram Argani
Department of Pathology, The Johns Hopkins Hospital, The Johns Hopkins University, Baltimore, MD 21231 2410, USA
Am J Surg Pathol 33:609-19. 2009....
Frequency and distinctive spectrum of KRAS mutations in never smokers with lung adenocarcinomaGregory J Riely
Thoracic Oncology Service, Division of Solid Tumor Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA
Clin Cancer Res 14:5731-4. 2008..These mutations are predictive of poor prognosis in resected disease as well as resistance to treatment with erlotinib or gefitinib...
Clinical cancer genomics: how soon is now?Barry S Taylor
Program in Computational Biology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
J Pathol 223:318-26. 2011..Whether these will impact routine clinical practice and the treatment of disease is no longer debatable, but how precisely this will happen is a source of ongoing speculation and development...
Novel markers of subclinical disease for Ewing family tumors from gene expression profilingIrene Y Cheung
Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
Clin Cancer Res 13:6978-83. 2007..Genome-wide expression arrays can uncover novel genes differentially expressed in tumors over normal marrow/blood, which may have potentials as markers of subclinical disease...
Integration of molecular profiling into the lung cancer clinicWilliam Pao
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA
Clin Cancer Res 15:5317-22. 2009..Implementation will facilitate realization of the promise of molecularly tailored therapy, which could lead to more effective treatments with fewer side effects...
Reflex testing of resected stage I through III lung adenocarcinomas for EGFR and KRAS mutation: report on initial experience and clinical utility at a single centerSandra P D'Angelo
Memorial Sloan Kettering Cancer Center, New York, NY 10019, USA
J Thorac Cardiovasc Surg 141:476-80. 2011....
Integrative clustering of multiple genomic data types using a joint latent variable model with application to breast and lung cancer subtype analysisRonglai Shen
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Bioinformatics 25:2906-12. 2009..A more statistically powerful approach would incorporate all data types simultaneously and generate a single integrated cluster assignment...
Molecular characteristics of bronchioloalveolar carcinoma and adenocarcinoma, bronchioloalveolar carcinoma subtype, predict response to erlotinibVincent A Miller
Thoracic Oncology Service, Division of Solid Tumor Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, Howard Building, Room 1012, 1275 York Ave, New York, NY 10021, USA
J Clin Oncol 26:1472-8. 2008..We conducted this phase II trial to determine the efficacy of erlotinib in patients with bronchioloalveolar carcinoma (BAC) and adenocarcinoma, BAC subtype, and to determine molecular characteristics associated with response...
Heterogeneity of breast cancer metastases: comparison of therapeutic target expression and promoter methylation between primary tumors and their multifocal metastasesJulie M Wu
Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, Maryland 21231, USA
Clin Cancer Res 14:1938-46. 2008..A comprehensive comparison of biomarker expression between patients' primary breast carcinoma (PBC) and their metastatic breast carcinomas (MBC) has not been done...
Comprehensive genomic analysis reveals clinically relevant molecular distinctions between thymic carcinomas and thymomasNicolas Girard
Human Oncology and Pathogenesis Program HOPP, Weill Medical College of Cornell University, New York, New York, USA
Clin Cancer Res 15:6790-9. 2009..However, whether the underlying biology of these tumors warrants such clustering is unclear, and the optimum treatment of either entity is unknown...
PDGFRA gene rearrangements are frequent genetic events in PDGFRA-amplified glioblastomasTatsuya Ozawa
Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA
Genes Dev 24:2205-18. 2010..These results suggest the possibility that these PDGFRA mutants behave as oncogenes in this subset of gliomas, and that the prevalence of such rearrangements may have been considerably underestimated...
Morphologic features of adenocarcinoma of the lung predictive of response to the epidermal growth factor receptor kinase inhibitors erlotinib and gefitinibMaureen F Zakowski
Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY 10021, USA
Arch Pathol Lab Med 133:470-7. 2009..A subset of lung adenocarcinomas appears preferentially sensitive to epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs). EGFR-activating mutations and never smoking are associated with response to TKIs...
Assessment of EGFR mutation status in lung adenocarcinoma by immunohistochemistry using antibodies specific to the two major forms of mutant EGFRMarie Brevet
Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
J Mol Diagn 12:169-76. 2010..IHC with EGFR mutant-specific antibodies could be used as a screen to identify most candidates for EGFR inhibitors...
Functional copy-number alterations in cancerBarry S Taylor
Computational Biology Center, Memorial Sloan Kettering Cancer Center, New York, New York, United States of America
PLoS ONE 3:e3179. 2008..Taken together, we present a statistically robust methodology applicable to high-resolution genomic data to assess the extent and function of copy-number alterations in cancer...
E-cadherin mutation and Snail overexpression as alternative mechanisms of E-cadherin inactivation in synovial sarcomaTsuyoshi Saito
Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Oncogene 23:8629-38. 2004..Thus, E-cadherin downregulation is associated with the loss or absence of glandular epithelial differentiation in certain SS...
EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytomaCristina R Antonescu
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Genes Chromosomes Cancer 46:1051-60. 2007..Thus, identical fusions involving ATF1 and CREB1 are found in two distinct sarcomas, which may be able to transform two different types of mesenchymal precursor cells, unlike most other sarcoma gene fusions...
The precrystalline cytoplasmic granules of alveolar soft part sarcoma contain monocarboxylate transporter 1 and CD147Marc Ladanyi
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
Am J Pathol 160:1215-21. 2002..The possible basis for the overproduction or impaired surface localization of these proteins in ASPS remains unclear...
MAGE antigen expression in monophasic and biphasic synovial sarcomaCristina R Antonescu
Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA
Hum Pathol 33:225-9. 2002..Our study demonstrates that MAGE is frequently and homogeneously expressed in synovial sarcomas of both morphological variants and both translocation types, making these tumors an attractive target for MAGE antigen-based immunotherapy...
Imatinib mesylate in Philadelphia chromosome-positive leukemia of childhoodE Anders Kolb
Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
Cancer 98:2643-50. 2003..However, to our knowledge, there are few data regarding imatinib safety, efficacy, and response monitoring in patients age < 18 years...
Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumorsCristina R Antonescu
Department of Pathology, Memorial Sloan Kettering Cancer Center, and Molecular Biology Program, Sloan Kettering Institute, New York, New York, 10021, USA
Clin Cancer Res 9:3329-37. 2003..The impact of KIT mutation in other regions, such as the extracellular or kinase domains, is not well-defined and fewer than 30 cases have been published to date...
Allelic losses at 1p36 and 19q13 in gliomas: correlation with histologic classification, definition of a 150-kb minimal deleted region on 1p36, and evaluation of CAMTA1 as a candidate tumor suppressor geneVioletta Barbashina
Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA
Clin Cancer Res 11:1119-28. 2005..To better define the histologic correlates of different patterns of 1p and 19q loss, we evaluated 1p/19q status in a large group of gliomas. This also allowed us to define a very small minimal deleted region (MDR) on 1p36...
KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinibWilliam Pao
Program in Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, New York, USA
PLoS Med 2:e17. 2005..Lung adenocarcinomas also harbor activating mutations in the downstream GTPase, KRAS, and mutations in EGFR and KRAS appear to be mutually exclusive...
Ewing sarcomas with p53 mutation or p16/p14ARF homozygous deletion: a highly lethal subset associated with poor chemoresponseHsuan-Ying Huang
Department of Pathology, Memorial Sloan-Kettering Cancer Center, 1275 York Ave, New York, NY 10021, USA
J Clin Oncol 23:548-58. 2005..CONCLUSION: Alterations in p53 or p16/p14ARF are found in a fourth of ES cases and define a subset with highly aggressive behavior and poor chemoresponse...
Homozygous deletion of CDKN2A and codeletion of the methylthioadenosine phosphorylase gene in the majority of pleural mesotheliomasPeter B Illei
Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York, 10021, USA
Clin Cancer Res 9:2108-13. 2003..Thus, the particularly high prevalence of MTAP codeletion in mesothelioma makes it an ideal candidate for trials of targeted therapy using inhibitors of de novo AMP synthesis (e.g., L-alanosine)...
Characterization of the genomic breakpoint and chimeric transcripts in the EWS-WT1 gene fusion of desmoplastic small round cell tumorW L Gerald
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021
Proc Natl Acad Sci U S A 92:1028-32. 1995..The chimeric products are predicted to modulate transcription at WT1 target sites and contribute to development of this unique tumor...
Neuroblastic and Schwannian stromal cells of neuroblastoma are derived from a tumoral progenitor cellJ Mora
Department of Pediatrics, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA
Cancer Res 61:6892-8. 2001....
The tyrosine phosphatase PTPRD is a tumor suppressor that is frequently inactivated and mutated in glioblastoma and other human cancersSelvaraju Veeriah
Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
Proc Natl Acad Sci U S A 106:9435-40. 2009..PTPRD was found to dephosphorylate the oncoprotein STAT3. These results implicate PTPRD as a tumor suppressor on chromosome 9p that is involved in the development of GBMs and multiple human cancers...
Soluble mesothelin related peptides (SMRP) and osteopontin as protein biomarkers for malignant mesothelioma: analytical validation of ELISA based assays and characterization at mRNA and protein levelsAlex J Rai
Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA
Clin Chem Lab Med 48:271-8. 2010..There is a need to identify reliable markers for malignant mesothelioma. Soluble mesothelin related peptides (SMRP) and osteopontin (OPN) have gained interest in recent years for this purpose...
Undifferentiated small round cell sarcomas with rare EWS gene fusions: identification of a novel EWS-SP3 fusion and of additional cases with the EWS-ETV1 and EWS-FEV fusionsLu Wang
Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY 10021, USA
J Mol Diagn 9:498-509. 2007..As these data further support, these types of EWS fusions are associated with primitive extraskeletal small round cell sarcomas of uncertain lineage arising mainly in the pediatric population...
The use of CDKN2A deletion as a diagnostic marker for malignant mesothelioma in body cavity effusionsPeter B Illei
Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA
Cancer 99:51-6. 2003..Further studies on larger series of patients with suspicious cytology are needed to evaluate the validity and efficiency of this approach for improving the diagnostic accuracy of effusion cytology...
Association of clonal T-cell large granular lymphocyte disease and paroxysmal nocturnal haemoglobinuria (PNH): further evidence for a pathogenetic link between T cells, aplastic anaemia and PNHA Karadimitris
Department of Human Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA
Br J Haematol 115:1010-4. 2001..Thus, T-LGL clones in AA, MDS and PNH probably expand as a result of antigenic stimulation. It is postulated that the antigen driving clonal T-cell proliferations in these disorders exists on haemopoietic stem cells...
Molecular diagnosis of synovial sarcoma and characterization of a variant SYT-SSX2 fusion transcriptI Fligman
Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
Am J Pathol 147:1592-9. 1995..Thus, a diagnosis of SS may be confirmed in > 90% of cases using RT-PCR detection of the chimeric transcript resulting from the t(X;18), and the incidence of molecular variants appears low...
High-dose melphalan, etoposide, total-body irradiation, and autologous stem-cell reconstitution as consolidation therapy for high-risk Ewing's sarcoma does not improve prognosisP A Meyers
Memorial Sloan Kettering Cancer Center, New York, NY, USA
J Clin Oncol 19:2812-20. 2001....
Epigenetic and genetic loss of Hic1 function accentuates the role of p53 in tumorigenesisWenyong Chen
Cancer Biology Program, Johns Hopkins Medical Institutions, 1650 Orleans Street, Baltimore, MD 21231, USA
Cancer Cell 6:387-98. 2004..Our results indicate the importance of genes altered only through epigenetic mechanisms in cancer progression in conjunction with genetically modified tumor suppressor genes...
Loss of imprinting of IGF2 and H19 in osteosarcoma is accompanied by reciprocal methylation changes of a CTCF-binding siteGary A Ulaner
Medical Service, VA Palo Alto Health Care System, Palo Alto, CA 94304, USA
Hum Mol Genet 12:535-49. 2003..We propose a model in which incomplete gain or loss of methylation at this CTCF-binding site during tumorigenesis explains the complex and often conflicting expression patterns of IGF2 and H19 in tumors...
Identification of PAX3-FKHR-regulated genes differentially expressed between alveolar and embryonal rhabdomyosarcoma: focus on MYCN as a biologically relevant targetGabriela E Mercado
Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Genes Chromosomes Cancer 47:510-20. 2008..In conclusion, we identified a selected set of biologically relevant genes modulated by PAX3-FKHR, and demonstrated that PAX3-FKHR contributes to the expression of MYCN and in turn MYCN collaborates with PAX3-FKHR in tumorigenesis...
Expression profiling of synovial sarcoma by cDNA microarrays: association of ERBB2, IGFBP2, and ELF3 with epithelial differentiationSusanne V Allander
Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Am J Pathol 161:1587-95. 2002....
Expression of SSX genes in the neoplastic cells of Hodgkin's lymphomaGisele W B Colleoni
Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA
Hum Pathol 33:496-502. 2002..Our results suggest that members of the SSX family of CTA are expressed in most HL. This subset of HL may be a candidate for immunotherapy approaches directed at SSX proteins...
TLE1 as a diagnostic immunohistochemical marker for synovial sarcoma emerging from gene expression profiling studiesJefferson Terry
Genetic Pathology Evaluation Centre, British Columbia Cancer Agency, 600 West 10th Avenue, Vancouver, British Columbia, Canada V5Z 4E6
Am J Surg Pathol 31:240-6. 2007..Our findings establish TLE as a robust immunohistochemical marker for synovial sarcoma, and may have implications for understanding the biology of synovial sarcoma and for developing experimental therapies for this cancer...
EGFR mutations in small-cell lung cancers in patients who have never smokedMaureen F Zakowski
N Engl J Med 355:213-5. 2006
Characterizing the cancer genome in lung adenocarcinomaBarbara A Weir
Department of Medical Oncology and Center for Cancer Genome Discovery, Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA
Nature 450:893-8. 2007..More generally, our results indicate that many of the genes that are involved in lung adenocarcinoma remain to be discovered...
Sp1-mediated transcriptional control of fibroblast growth factor receptor 4 in sarcomas of skeletal muscle lineageShun Jiang Yu
Department of Medicine, Mount Sinai Hospital and University of Toronto, The Freeman Centre for Endocrine Oncology and The Ontario Cancer Institute, Toronto, Ontario, Canada
Clin Cancer Res 10:6750-8. 2004..Our findings point to Sp1 as an important contributor to FGFR4 transcriptional control and elucidate a potential mechanism for the heterogeneous expression of FGFR4 in neoplasms derived from the same cell lineage...
Erlotinib in lung cancerWilliam Pao
N Engl J Med 353:1739-41; author reply 1739-41. 2005
The homeotic protein Six3 is a coactivator of the nuclear receptor NOR-1 and a corepressor of the fusion protein EWS/NOR-1 in human extraskeletal myxoid chondrosarcomasCynthia Laflamme
Human and Molecular Genetic Research Unit, Pavillon Saint Francois d Assise, CHUQ, Quebec, QC, G1L 3L5 Canada
Cancer Res 63:449-54. 2003....
Absence of a telomere maintenance mechanism as a favorable prognostic factor in patients with osteosarcomaGary A Ulaner
Medical Service, Veterans Administration Palo Alto Health Care System, and Department of Medicine, Stanford University, Palo Alto, California 94304, USA
Cancer Res 63:1759-63. 2003..Finally, we note that OS cases with a TA-/ALT+ phenotype seem to be as clinically aggressive as TA+ cases in terms of stage and clinical outcome...
Somatic mutations affect key pathways in lung adenocarcinomaLi Ding
The Genome Center at Washington University, Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63108, USA
Nature 455:1069-75. 2008..Our findings shed further light on several important signalling pathways involved in lung adenocarcinoma, and suggest new molecular targets for treatment...
Comprehensive genomic characterization defines human glioblastoma genes and core pathwaysRoger McLendon
Nature 455:1061-8. 2008..Together, these findings establish the feasibility and power of TCGA, demonstrating that it can rapidly expand knowledge of the molecular basis of cancer...
Translocation carcinomas of the kidneyPedram Argani
Department of Surgical Pathology, The Johns Hopkins Hospital, Baltimore, MD 21231 2410, USA
Clin Lab Med 25:363-78. 2005..The clinical behavior of these neoplasms relative to conventional, adult-type renal carcinomas remains to be determined, and will be an important area of future investigation...
Correlates of SYT-SSX fusion type in synovial sarcoma: getting more complex but also more interesting?Marc Ladanyi
J Clin Oncol 23:3638-9; author reply 3639-40. 2005
A novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23)Pedram Argani
The Johns Hopkins Hospital, Baltimore, MD 21287, USA
Oncogene 22:5374-8. 2003..Further analysis of the shared features of CLTC and other TFE3 fusion partners may shed light on the essential biology of TFE3 fusion proteins...
Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assayPedram Argani
Department of Pathology, John Hopkins Medical Institutions, Baltimore, MD, USA
Am J Surg Pathol 27:750-61. 2003..Carcinomas associated with TFE3 gene fusions may account for a significant proportion of pediatric renal carcinomas, and this immunohistochemistry assay may help to clarify their true prevalence...
Research Grants
- ASPL TFE3 fusion in human cancersMarc Ladanyi; Fiscal Year: 2006..3->qter; and finally analyze selected candidate genes in the same region for inactivating mutations. ..
- The TCGA Cancer Genome Characterization Center at MSKCCMarc Ladanyi; Fiscal Year: 2007..They will also perform a variety of higher level analyses and integrated analyses to derive prioritized lists of genes and genomic regions of interest for sequencing by the TCGA Genome Sequencing Centers. ..
