Maria Debiec-Rychter

Summary

Affiliation: Katholieke Universiteit Leuven
Country: Belgium

Publications

  1. ncbi request reprint Endometrial stromal sarcoma presenting as postpartum haemorrhage: report of a case with a sole t(10;17)(q22;p13) translocation
    Karin Leunen
    Division of Gynecological Oncology, Department of Obstetrics and Gynecology, University Hospitals Leuven, Belgium
    Gynecol Oncol 91:265-71. 2003
  2. ncbi request reprint Array CGH analysis in primary gastrointestinal stromal tumors: cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status
    Agnieszka Wozniak
    Department of Human Genetics, Catholic University of Leuven, Leuven, Belgium
    Genes Chromosomes Cancer 46:261-76. 2007
  3. pmc Reclassification and subtyping of so-called malignant fibrous histiocytoma of bone: comparison with cytogenetic features
    Fredrik Mertens
    Department of Clinical Genetics, University and Regional Laboratories, Skane University Hospital, Lund University, Lund, Sweden
    Clin Sarcoma Res 1:10. 2011
  4. ncbi request reprint Common chromosome aberrations in the proximal type of epithelioid sarcoma
    M Debiec-Rychter
    Center of Human Genetics, Katholieke Universiteit, Leuven, Belgium
    Cancer Genet Cytogenet 123:133-6. 2000
  5. ncbi request reprint ALK-ATIC fusion in urinary bladder inflammatory myofibroblastic tumor
    Maria Debiec-Rychter
    Center for Human Genetics, University of Leuven, Leuven, Belgium
    Genes Chromosomes Cancer 38:187-90. 2003
  6. pmc Complex genomic rearrangement of ALK loci associated with integrated human Epstein-Barr virus in a post-transplant myogenic liver tumor
    Maria Debiec-Rychter
    Center for Human Genetics, Catholic University of Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Am J Pathol 163:913-22. 2003
  7. ncbi request reprint Spindle-cell rhabdomyosarcoma with 2q36 approximately q37 involvement
    Maria Debiec-Rychter
    Department of Human Genetics, Katholieke Universiteit Leuven, 3000, Leuven, Belgium
    Cancer Genet Cytogenet 140:62-5. 2003
  8. ncbi request reprint Gastrointestinal stromal tumours (GISTs) negative for KIT (CD117 antigen) immunoreactivity
    Maria Debiec-Rychter
    Laboratory for Cytogenetics and Molecular Genetics of Human Malignancies, Department of Human Genetics, Catholic University of Leuven, Belgium
    J Pathol 202:430-8. 2004
  9. ncbi request reprint Is 4q13 a recurring breakpoint in solitary fibrous tumors?
    M Debiec-Rychter
    Center of Human Genetics, Katholieke Universiteit Leuven, 49, B 3000 Leuven, Herestraat, Belgium
    Cancer Genet Cytogenet 131:69-73. 2001
  10. ncbi request reprint Molecular cytogenetic definition of three distinct chromosome arm 14q deletion intervals in gastrointestinal stromal tumors
    M Debiec-Rychter
    Center for Human Genetics, Katholieke Universiteit Leuven, Belgium
    Genes Chromosomes Cancer 32:26-32. 2001

Detail Information

Publications92

  1. ncbi request reprint Endometrial stromal sarcoma presenting as postpartum haemorrhage: report of a case with a sole t(10;17)(q22;p13) translocation
    Karin Leunen
    Division of Gynecological Oncology, Department of Obstetrics and Gynecology, University Hospitals Leuven, Belgium
    Gynecol Oncol 91:265-71. 2003
    ..In addition, ESS is a tumor type of which, due to its rarity, little is known regarding chemosensitivity and genetic changes...
  2. ncbi request reprint Array CGH analysis in primary gastrointestinal stromal tumors: cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status
    Agnieszka Wozniak
    Department of Human Genetics, Catholic University of Leuven, Leuven, Belgium
    Genes Chromosomes Cancer 46:261-76. 2007
    ..32-1p35.2, 1p34.1, and 1p22.1-1p21.3), 13q (13q14.11-q14.2 and 13q32.3-q33.1), and 15q23 were delineated, which point to chromosomal regions that may harbor genes relevant to the development of these neoplasms...
  3. pmc Reclassification and subtyping of so-called malignant fibrous histiocytoma of bone: comparison with cytogenetic features
    Fredrik Mertens
    Department of Clinical Genetics, University and Regional Laboratories, Skane University Hospital, Lund University, Lund, Sweden
    Clin Sarcoma Res 1:10. 2011
    ..abstract:..
  4. ncbi request reprint Common chromosome aberrations in the proximal type of epithelioid sarcoma
    M Debiec-Rychter
    Center of Human Genetics, Katholieke Universiteit, Leuven, Belgium
    Cancer Genet Cytogenet 123:133-6. 2000
    ....
  5. ncbi request reprint ALK-ATIC fusion in urinary bladder inflammatory myofibroblastic tumor
    Maria Debiec-Rychter
    Center for Human Genetics, University of Leuven, Leuven, Belgium
    Genes Chromosomes Cancer 38:187-90. 2003
    ..This is the first evidence of a variant rearrangement involving the ATIC gene in IMT and the first cytogenetic description of an IMT originating from the urinary bladder...
  6. pmc Complex genomic rearrangement of ALK loci associated with integrated human Epstein-Barr virus in a post-transplant myogenic liver tumor
    Maria Debiec-Rychter
    Center for Human Genetics, Catholic University of Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Am J Pathol 163:913-22. 2003
    ..In this respect, the observed phenotypic heterogeneity most likely reflects divergence during neoplastic progression, with the subsequent expansion of morphologically and molecularly distinct but cytogenetically related clones...
  7. ncbi request reprint Spindle-cell rhabdomyosarcoma with 2q36 approximately q37 involvement
    Maria Debiec-Rychter
    Department of Human Genetics, Katholieke Universiteit Leuven, 3000, Leuven, Belgium
    Cancer Genet Cytogenet 140:62-5. 2003
    ..By fluorescence in situ hybridization analysis, the tumor cells were negative for FKHR-disrupting translocations specific for alveolar type of RMS and for NMYC gene amplification...
  8. ncbi request reprint Gastrointestinal stromal tumours (GISTs) negative for KIT (CD117 antigen) immunoreactivity
    Maria Debiec-Rychter
    Laboratory for Cytogenetics and Molecular Genetics of Human Malignancies, Department of Human Genetics, Catholic University of Leuven, Belgium
    J Pathol 202:430-8. 2004
    ..While intragenic PDGFRA activating mutations are present in some of these tumours, the oncogenic events underlying the pathogenesis of the others remain unknown...
  9. ncbi request reprint Is 4q13 a recurring breakpoint in solitary fibrous tumors?
    M Debiec-Rychter
    Center of Human Genetics, Katholieke Universiteit Leuven, 49, B 3000 Leuven, Herestraat, Belgium
    Cancer Genet Cytogenet 131:69-73. 2001
    ..Chromosome translocations involving chromosome 4q13 may characterize a separate cytogenetic subgroup of SFT...
  10. ncbi request reprint Molecular cytogenetic definition of three distinct chromosome arm 14q deletion intervals in gastrointestinal stromal tumors
    M Debiec-Rychter
    Center for Human Genetics, Katholieke Universiteit Leuven, Belgium
    Genes Chromosomes Cancer 32:26-32. 2001
    ..Furthermore, 21 tumors (70%) shared a region of deletion defined by YACs 957H10 and 931E5 at 14q11-12. Our results suggest the presence of at least three distinct critical deletion regions on chromosome 14 in GISTs...
  11. ncbi request reprint Complex genetic alterations in gastrointestinal stromal tumors with autonomic nerve differentiation
    Maria Debiec-Rychter
    Center for Human Genetics, Katholieke Universiteit Leuven, Belgium
    Mod Pathol 15:692-8. 2002
    ..These findings suggest that accumulated genetic changes contribute to the pathogenesis of GANTs and that 22q13 loss may be a characteristic feature of these tumors...
  12. ncbi request reprint Histologic localization of PLAG1 (pleomorphic adenoma gene 1) in pleomorphic adenoma of the salivary gland: cytogenetic evidence of common origin of phenotypically diverse cells
    M Debiec-Rychter
    Laboratory for Cytogenetics and Molecular Genetics of Human Malignancies, Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
    Lab Invest 81:1289-97. 2001
    ..This finding confirms the theory that pleomorphic adenoma cells share a common single-cell origin, most likely from the epithelial progenitor basal duct cells...
  13. doi request reprint The heat shock protein 90 inhibitor IPI-504 induces KIT degradation, tumor shrinkage, and cell proliferation arrest in xenograft models of gastrointestinal stromal tumors
    Giuseppe Floris
    Laboratory of Experimental Oncology and Department of General Medical Oncology, University Hospital Gasthuisberg, Catholic University of Leuven, Herestraat 49, bus 815, 3000 Leuven, Belgium
    Mol Cancer Ther 10:1897-908. 2011
    ..The sequence of drug administration in the combination arms warrants further studies...
  14. ncbi request reprint Differential expression of KIT/PDGFRA mutant isoforms in epithelioid and mixed variants of gastrointestinal stromal tumors depends predominantly on the tumor site
    Bartosz Wasag
    Laboratory for Cytogenetics and Molecular Genetics of Human Malignancies, Department for Human Genetics, Catholic University of Leuven, Belgium
    Mod Pathol 17:889-94. 2004
    ..These findings indicate that the mutational status of epithelioid/mixed GISTs associates with the anatomical site of the tumor...
  15. ncbi request reprint Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants
    Maria Debiec-Rychter
    Center for uman Genetics, Catholic University of Leuven, Leuven, Belgium
    Gastroenterology 128:270-9. 2005
    ..We investigated the mechanisms of resistance in patients with progressive GISTs with primary KIT mutations and the efficacy of the kinase inhibitor PKC412 for the inhibition of imatinib-resistant mutants...
  16. doi request reprint Coactivated platelet-derived growth factor receptor {alpha} and epidermal growth factor receptor are potential therapeutic targets in intimal sarcoma
    Barbara Dewaele
    Department of Human Genetics, University of Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Cancer Res 70:7304-14. 2010
    ....
  17. doi request reprint Activity of dasatinib, a dual SRC/ABL kinase inhibitor, and IPI-504, a heat shock protein 90 inhibitor, against gastrointestinal stromal tumor-associated PDGFRAD842V mutation
    Barbara Dewaele
    Department of Human Genetics, K U Leuven, and VIB Department of Molecular and Developmental Genetics, VIB, Leuven, Belgium
    Clin Cancer Res 14:5749-58. 2008
    ..In addition, we sought to investigate the inhibitory effect of the heat shock protein 90 inhibitor, IPI-504, on these mutants...
  18. doi request reprint Implications of mutational analysis for the management of patients with gastrointestinal stromal tumors and the application of targeted therapies
    Agnieszka Wozniak
    Department of General Medical Oncology and Laboratory of Experimental Oncology, University Hospital Gasthuisberg, Leuven, Belgium
    Cancer Invest 28:839-48. 2010
    ..This review examines the potential role of mutational analysis to optimize therapy with imatinib and sunitinib for GIST...
  19. doi request reprint A potent combination of the novel PI3K Inhibitor, GDC-0941, with imatinib in gastrointestinal stromal tumor xenografts: long-lasting responses after treatment withdrawal
    Giuseppe Floris
    Department of Pathology, KU Leuven and University Hospitals Leuven, Leuven Cancer Institute, Leuven, Belgium
    Clin Cancer Res 19:620-30. 2013
    ..Oncogenic signaling in gastrointestinal stromal tumors (GIST) is sustained via PI3K/AKT pathway. We used a panel of six GIST xenograft models to assess efficacy of GDC-0941 as single agent or in combination with imatinib (IMA)...
  20. ncbi request reprint Establishment of a mouse gastrointestinal stromal tumour model and evaluation of response to imatinib by small animal positron emission tomography
    Hans Prenen
    Laboratory for Experimental Oncology LEO, Department of General Medical Oncology, Catholic University Leuven, B 3000 Leuven, Belgium
    Anticancer Res 26:1247-52. 2006
    ..As resistance to imatinib causes therapy failure, our aim was to develop an in vivo GIST model to evaluate KIT inhibitors and monitor therapy with small animal positron emission tomography (PET)...
  21. ncbi request reprint Cellular uptake of the tyrosine kinase inhibitors imatinib and AMN107 in gastrointestinal stromal tumor cell lines
    Hans Prenen
    Laboratory for Experimental Oncology LEO, Department of General Medical Oncology, University Hospital Gasthuisberg, Leuven, Belgium
    Pharmacology 77:11-6. 2006
    ....
  22. doi request reprint High efficacy of panobinostat towards human gastrointestinal stromal tumors in a xenograft mouse model
    Giuseppe Floris
    Department of General Medical Oncology, Laboratory of Experimental Oncology, University Hospital Gasthuisberg, University of Leuven, Leuven, Belgium
    Clin Cancer Res 15:4066-76. 2009
    ....
  23. ncbi request reprint Efficacy of the kinase inhibitor SU11248 against gastrointestinal stromal tumor mutants refractory to imatinib mesylate
    Hans Prenen
    Departments of General Medical Oncology and Human Genetics, Flanders Interuniversity Institute for Biotechnology VIB, Leuven, Belgium
    Clin Cancer Res 12:2622-7. 2006
    ..We tested the activity of SU11248, an orally active small-molecule tyrosine kinase inhibitor, to inhibit important imatinib-resistant KIT and PDGFRA mutants...
  24. doi request reprint Distribution and prognostic value of histopathologic data and immunohistochemical markers in gastrointestinal stromal tumours (GISTs): An analysis of the EORTC phase III trial of treatment of metastatic GISTs with imatinib mesylate
    Raf Sciot
    Department of Pathology, Catholic University of Leuven, University Hospital Gasthuisberg, Herestraat 49, B 3000 Leuven, Belgium
    Eur J Cancer 44:1855-60. 2008
    ..The current analysis of that study aimed to assess whether histological/immunohistochemical parameters correlate with clinical response to imatinib...
  25. ncbi request reprint Lipoblastoma in a 23-year-old male: distinction from atypical lipomatous tumor using cytogenetic and fluorescence in-situ hybridization analysis
    Raf Sciot
    Department of Pathology University Hospital, Catholic University of Leuven, University Hospital St Rafael, Minderbroedersstraat 12, 3000 Leuven, Belgium
    Virchows Arch 442:468-71. 2003
    ..The diagnostic value of cytogenetic/molecular analysis in the differential diagnosis of lipomatous tumors is underscored as well...
  26. ncbi request reprint GIST under imatinib therapy
    Raf Sciot
    Department of Pathology, University Hospital, Catholic University of Leuven, Leuven, Belgium
    Semin Diagn Pathol 23:84-90. 2006
    ..Two settings are elaborated separately, a responding/stable GIST, and a resistant GIST. In addition, the attention will be drawn to remarkable (immuno)phenotypic changes that can occur in a GIST under imatinib treatment...
  27. doi request reprint Rectal gastrointestinal stromal tumors associated with a novel germline KIT mutation
    Agnieszka Wozniak
    Department of General Medical Oncology, Catholic University of Leuven, Leuven, Belgium
    Int J Cancer 122:2160-4. 2008
    ..This observation confirms that imatinib can be successfully used in familial GISTs, as it is used in the sporadic advanced tumors, and that tumors bearing a KIT p.Q575_P577delinsH mutation are responsive to imatinib treatment...
  28. doi request reprint Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma
    Eline Beert
    Department of Human Genetics, KU Leuven, Leuven, Belgium
    Genes Chromosomes Cancer 51:852-7. 2012
    ..We conclude that biallelic NF1 inactivation was at the origin of the isolated plexiform neurofibroma in this patient. The insertion is most likely the "first hit" and the large deletion the "second hit."..
  29. ncbi request reprint Malignant ectomesenchymoma: genetic profile reflects rhabdomyosarcomatous differentiation
    Giuseppe Floris
    Laboratory for Morphology and Molecular Pathology, University of Leuven, Belgium
    Diagn Mol Pathol 16:243-8. 2007
    ..This finding supports the oncogenic properties of the HMGA family of proteins and their role in the process of malignant transformation...
  30. ncbi request reprint Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA
    Thomas De Raedt
    Department of Human Genetics, Catholic University of Leuven, Leuven, Belgium
    Gastroenterology 131:1907-12. 2006
    ..At present, the molecular basis of intestinal neurofibromatosis remains elusive. The aim of the present study was to find the gene responsible for intestinal neurofibromatosis and to characterize functionally the mutation...
  31. doi request reprint Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors
    Eline Beert
    Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
    Genes Chromosomes Cancer 50:1021-32. 2011
    ..These data support the hypothesis that atypical neurofibromas are premalignant tumors, with the CDKN2A/B deletion as the first step in the progression toward MPNST...
  32. ncbi request reprint Endometrial stromal sarcoma with a sole t(X;17) chromosome change: report of a case and review of the literature
    Frederic Amant
    Division of Gynecological Oncology, Department of Obstetrics and Gynecology, University Hospitals Leuven, 3000, Leuven, Belgium
    Gynecol Oncol 88:459-62. 2003
    ..Endometrial stromal sarcomas (ESSs) exhibit varying degrees of malignancy and heterogeneity at the karyotypic level. The biological mechanisms that contribute to tumorigenesis of ESS are still largely unknown...
  33. pmc Pathogenesis of vestibular schwannoma in ring chromosome 22
    Ellen Denayer
    Department of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    BMC Med Genet 10:97. 2009
    ..Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with ring chromosome 22. The pathogenesis of these tumours is not always clear yet...
  34. doi request reprint Kit gene in endometrial carcinoma: an immunohistochemical and mutational analysis
    Ingrid Vandenput
    Leuven Cancer Institute, Katholieke Universiteit Leuven, Belgium
    Int J Gynecol Cancer 21:203-5. 2011
    ..We evaluated KIT, a receptor tyrosine kinase, to determine a potential role for imatinib mesylate in the treatment of endometrial carcinoma...
  35. ncbi request reprint Promoting role of cholecystokinin 2 receptor (CCK2R) in gastrointestinal stromal tumour pathogenesis
    Anna Quattrone
    Department of Human Genetics, KU Leuven and University Hospitals Leuven, Belgium
    J Pathol . 2012
    ..Our results indicate a promoting role of CCK2R on GIST tumourigenesis, particularly in tumours of gastric origin. Copyright © 2012 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd...
  36. ncbi request reprint KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours
    Maria Debiec-Rychter
    Department of Human Genetics, University of Leuven and University Hospital Gasthuisberg, O and N Gasthuisberg, Herestraat 49, B 3000 Leuven, Belgium
    Eur J Cancer 42:1093-103. 2006
    ..Our findings suggest the need for differential treatment of patients with GISTs, with KIT exon 9 mutant patients benefiting the most from the 800 mg daily dose of the drug...
  37. ncbi request reprint Gastrointestinal stromal tumor of the prostate
    Frank Van Der Aa
    Department of Urology, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium
    Urology 65:388. 2005
    ..Therapy consisted of a tyrosine kinase inhibitor, resulting in prostate mass reduction. After 100 weeks, the patient was in good physical condition with a continuing partial response with a reduced mass volume and liver nodules...
  38. doi request reprint Clinical management of uterine sarcomas
    Frederic Amant
    Leuven Cancer Institute, Gynaecological Oncology, University Hospital Gasthuisberg, Katholieke Universiteit, Leuven, Belgium
    Lancet Oncol 10:1188-98. 2009
    ..Potential future targets and targeted treatments that are under investigation are presented for both entities...
  39. ncbi request reprint Case report of a poorly differentiated uterine tumour with t(10;17) translocation and neuroectodermal phenotype
    Frederic Amant
    Division of Gynaecological Oncology, Department of Obstetrics and Gynaecology, University Hospitals Leuven, and Department of Human Genetics, Catholic University of Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Anticancer Res 31:2367-71. 2011
    ..After surgical staging, the patient received bleomycin-etoposide-cisplatin combination chemotherapy. A detailed analysis of the histopathology and genetic findings forms the basis of this report...
  40. ncbi request reprint Extramammary myofibroblastoma is genetically related to spindle cell lipoma
    Francesca Maggiani
    Department of Morphology and Molecular Pathology, University Hospital, Catholic University Leuven, Leuven, Belgium
    Virchows Arch 449:244-7. 2006
    ....
  41. ncbi request reprint Expression and possible role of hPTTG1/securin in cutaneous malignant melanoma
    Veronique Winnepenninckx
    Department of Morphology and Molecular Pathology, University Hospitals, Katholieke Universiteit Leuven KUL, Leuven, Belgium
    Mod Pathol 19:1170-80. 2006
    ....
  42. ncbi request reprint Metanephric adenoma during pregnancy: clinical presentation, histology, and cytogenetics
    Evelyne Lerut
    Department of Morphology and Molecular Pathology, University Hospitals Leuven, B 3000 Leuven, Belgium
    Hum Pathol 37:1227-32. 2006
    ..The further pregnancy went on well. The karyotype of the tumor was 46,XX,t(1;22)(q22;q13),t(15;16)(q21;p13). To our knowledge, this is the first report on these chromosomal abnormalities in metanephric adenoma...
  43. ncbi request reprint Adult sclerosing rhabdomyosarcoma: cytogenetic link with embryonal rhabdomyosarcoma
    Romaric Croes
    Department of Morphology and Molecular Pathology, University Hospitals, K U Leuven, Leuven, Belgium
    Virchows Arch 446:64-7. 2005
    ..The chromosomal composition of malignant cells resembled the pattern of numerical changes frequently observed in embryonal rhabdomyosarcoma, suggesting a close relationship of an adult sclerosing rhabdomyosarcoma with this entity...
  44. ncbi request reprint ERBB-2 gene overexpression and amplification in uterine sarcomas
    Frederic Amant
    Division of Gynecologic Oncology, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium
    Gynecol Oncol 95:583-7. 2004
    ..The aim of this study was to determine ERBB-2 (HER-2/neu) gene alterations in different subtypes of uterine sarcomas...
  45. ncbi request reprint Cytogenetic comparison between clear cell sarcoma and a case of acral clear cell melanoma
    Bettina G Zelger
    Department of Human Genetics, Catholic University of Leuven, Belgium
    J Dtsch Dermatol Ges 1:363-8. 2003
    ..Clear cell melanoma is a recently described variant of melanoma characterized by prominent clear cell features similar to clear cell sarcoma...
  46. doi request reprint Clinical usefulness of EGFR gene copy number as a predictive marker in colorectal cancer patients treated with cetuximab: a fluorescent in situ hybridization study
    Nicola Personeni
    Digestive Oncology Unit, University Hospital Gasthuisberg, Leuven, Belgium
    Clin Cancer Res 14:5869-76. 2008
    ..The value of testing KRAS mutation status, in addition to EGFR GCN, was also explored...
  47. ncbi request reprint Differential protein expression profile in gastrointestinal stromal tumors
    B Landuyt
    Laboratory of Experimental Oncology LEO, University Hospital Gasthuisberg, Catholic University of Leuven, Leuven, Belgium
    Amino Acids 27:335-7. 2004
    ..In total, 154 proteins were significantly differentially expressed in GISTs with exon 9 KIT mutation compared to GISTs with exon 11 KIT mutation...
  48. ncbi request reprint An extrarenal rhabdoid tumor of the cervical spine with bony involvement
    C Robbens
    Department of Radiology, U Z Gasthuisberg, Herestraat 49, B 3000 Leuven, Belgium
    Skeletal Radiol 36:341-5. 2007
    ..Only three cases of primary spinal rhabdoid tumor have been reported. This case is the first reported extradural rhabdoid tumor of the spinal canal and the first case of a rhabdoid tumor located in the spinal canal with bony involvement...
  49. doi request reprint Integration of autologous dendritic cell-based immunotherapy in the standard of care treatment for patients with newly diagnosed glioblastoma: results of the HGG-2006 phase I/II trial
    Hilko Ardon
    Department of Neurosurgery, Catholic University of Leuven, Leuven, Belgium
    Cancer Immunol Immunother 61:2033-44. 2012
    ....
  50. ncbi request reprint Cutaneous aneurysmal fibrous histiocytoma with a t(12;19)(p12;q13) as the sole cytogenetic anomaly
    Gehan Botrus
    Department of Clinical Oncology, Katholieke Universiteit Leuven, O and N Gasthuisberg, Leuven, Belgium
    Cancer Genet Cytogenet 164:155-8. 2006
    ..Cytogenetic analysis may contribute to the diagnosis of this uncommon but distinctive clinicopathological entity...
  51. ncbi request reprint Identification of a karyopherin alpha 2 recognition site in PLAG1, which functions as a nuclear localization signal
    Caroline V Braem
    Laboratory for Molecular Oncology, Department of Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, Herestraat 49, B 3000 Leuven, Belgium
    J Biol Chem 277:19673-8. 2002
    ..These observations indicate that the nuclear import of PLAG1 is governed by its zinc finger domain and by NLS1, a karyopherin alpha2 recognition site...
  52. doi request reprint Mitotic checkpoints and chromosome instability are strong predictors of clinical outcome in gastrointestinal stromal tumors
    Pauline Lagarde
    INSERM U916 Genetics and Biology of Sarcomas, Paris Cedex, France
    Clin Cancer Res 18:826-38. 2012
    ..We recently published a 67 gene expression prognostic signature related to genome complexity (CINSARC for Complexity INdex in SARComas) and asked whether it could predict outcome in GISTs...
  53. pmc High-grade endometrial stromal sarcoma presenting in a 28-year-old woman during pregnancy: a case report
    Frederic Amant
    Gynecologic Oncology, Leuven Cancer Institute LKI, Katholieke Universiteit Leuven, Belgium
    J Med Case Reports 4:243. 2010
    ..To the best of our knowledge, soft tissue sarcomas have not prevously been reported as a complication during pregnancy...
  54. ncbi request reprint Cytokeratin-positive meningeal peripheral PNET/Ewing's sarcoma of the cervical spinal cord: diagnostic value of genetic analysis
    Heidi Woestenborghs
    Department of Pathology, University Hospital, Catholic University of Leuven, Leuven, Belgium
    Int J Surg Pathol 13:93-7. 2005
    ..Genetic analysis plays a key role in its distinction from other small blue round cell tumors...
  55. ncbi request reprint Post-irradiation sarcoma after external beam radiation therapy for localized adenocarcinoma of the prostate
    Jean Briac Prevost
    Department of Radiation Oncology, University Hospitals Gasthuisberg, Leuven, Belgium
    Tumori 90:618-21. 2004
    ....
  56. doi request reprint Extramammary myofibroblastoma in the head and neck region
    Valerie Hox
    Department of Ear, Nose, and Throat Disease, Head and Neck Surgery, KULeuven, Leuven, Belgium
    Head Neck 31:1240-4. 2009
    ..Mammary myofibroblastoma is a benign mesenchymal tumor of the breast. Extramammary location is very rare and usually occurs along the embryonic milk-line...
  57. ncbi request reprint HMGA2 regulates transcription of the Imp2 gene via an intronic regulatory element in cooperation with nuclear factor-kappaB
    Isabelle Cleynen
    Department of Human Genetics, Flanders Interuniversity Institute for Biotechnology, University of Leuven, Herestraat 49, Box 602, B 3000 Leuven, Belgium
    Mol Cancer Res 5:363-72. 2007
    ..Finally, we provide evidence that there is a strong and statistically significant correlation between HMGA2 and IMP2 gene expression in human liposarcomas...
  58. ncbi request reprint Changing phenotype of gastrointestinal stromal tumours under imatinib mesylate treatment: a potential diagnostic pitfall
    P Pauwels
    Department of Human Genetics, Catholic University of Leuven, Leuven, Belgium
    Histopathology 47:41-7. 2005
    ....
  59. pmc Clinical implications of mutational analysis in gastrointestinal stromal tumours
    A Hoeben
    Department of General Medical Oncology and Laboratory of Experimental Oncology, University Hospitals Leuven, Leuven Cancer Institute, Catholic University of Leuven, Leuven, Belgium
    Br J Cancer 98:684-8. 2008
    ..In this minireview, we briefly summarise and discuss the current data relevant to the increasing role of molecular characterisation of GISTs in the diagnosis, risk assessment and effective targeted therapy...
  60. ncbi request reprint Use of c-KIT/PDGFRA mutational analysis to predict the clinical response to imatinib in patients with advanced gastrointestinal stromal tumours entered on phase I and II studies of the EORTC Soft Tissue and Bone Sarcoma Group
    M Debiec-Rychter
    Department of Human Genetics, Oncology and Pathology, UZ Gasthuisberg, Catholic University of Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Eur J Cancer 40:689-95. 2004
    ..These findings indicate that the mutational status of the c-KIT/PDGFRA oncoproteins could be useful to predict the clinical response of patients imatinib therapy...
  61. ncbi request reprint Other malignant neoplasms in patients with gastrointestinal stromal tumors (GIST)
    Włodzimierz Ruka
    Med Sci Monit 10:LE13-4. 2004
  62. ncbi request reprint KIT overexpression and amplification in gastrointestinal stromal tumors (GISTs)
    Séverine Tabone
    Biochemistry and Molecular Biology Department, Paul Brousse Hospital, AP HP, INSERM U602, Paris Sud University, Villejuif 94804, France
    Biochim Biophys Acta 1741:165-72. 2005
    ..03 respectively). In conclusion, contrasting with the regulation of other tyrosine kinase receptors, KIT overexpression in GISTs is rarely related to a gene amplification, which suggests a deregulation of KIT gene transcription...
  63. ncbi request reprint Predictive factors for long-term effects of imatinib therapy in patients with inoperable/metastatic CD117(+) gastrointestinal stromal tumors (GISTs)
    Piotr Rutkowski
    Department of Soft Tissue Bone Sarcoma and Melanoma, M Sklodowska Curie Memorial Cancer Center, Institute of Oncology, Warsaw, Poland
    J Cancer Res Clin Oncol 133:589-97. 2007
    ..To analyze the outcomes of treatment and factors predicting effects of imatinib (IM) therapy in inoperable/metastatic gastrointestinal stromal tumors (GIST) CD117(+) patients...
  64. ncbi request reprint Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 breakpoints
    Danielle Bodmer
    Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Cancer Genet Cytogenet 136:95-100. 2002
    ..Because these clustered 3q21 breakpoints do not coincide with the familial 3q21 breakpoint, they most likely affect genes distinct from DIRC2...
  65. ncbi request reprint A clonal translocation (7;8)(p13;q11.2) in a leiomyoma of the vulva
    Elaine Horton
    Department of Pathology, Scott and White Memorial Hospital and Clinic, Scott, Sherwood and Brindley Foundation, 2401 South 31st Street, Temple, TX, USA
    Cancer Genet Cytogenet 170:58-60. 2006
    ..Its karyotype was 46,XX,t(7;8)(p13;q11.2). This translocation has not been described in previously reported leiomyomas, regardless of their site of origin. The transcription factor PLAG1 gene at 8q12 was not altered by the translocation...
  66. pmc 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
    ....
  67. ncbi request reprint Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients
    Ophélia Maertens
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mol Genet 15:1015-23. 2006
    ..In conclusion, we report for the first time the molecular pathogenesis of GISTs in NF1 individuals and demonstrate that this type of tumor clearly belongs to the spectrum of clinical symptoms in NF1...
  68. ncbi request reprint Molecular and clinical analysis of locally advanced dermatofibrosarcoma protuberans treated with imatinib: Imatinib Target Exploration Consortium Study B2225
    Grant 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...
  69. ncbi request reprint Molecular cytogenetic characterization of proximal-type epithelioid sarcoma
    Elena Lualdi
    Unit of Molecular Cytogenetics, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milano, Italy
    Genes Chromosomes Cancer 41:283-90. 2004
    ..A review of both cases reported in the literature and those presented in this study reinforced the involvement of chromosomes 8 and 22 and also indicated frequent rearrangements of chromosomes 7, 14, 18, and 20...
  70. ncbi request reprint Loss of chromosome 22 and proliferative potential in ependymomas
    Maria Debiec-Rychter
    Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland
    Folia Neuropathol 41:191-5. 2003
    ..6% and 6.0%, respectively, p = 0.05), indicating that loss of chromosome 22 may be associated with the subset of ependymomas characterised by low proliferative capacities...
  71. ncbi request reprint 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...
  72. ncbi request reprint Chondroid lipoma is characterized by t(11;16)(q13;p12-13)
    Florence Ballaux
    Virchows Arch 444:208-10. 2004
  73. ncbi request reprint NCCN Task Force report: management of patients with gastrointestinal stromal tumor (GIST)--update of the NCCN clinical practice guidelines
    George D Demetri
    J Natl Compr Canc Netw 5:S1-29; quiz S30. 2007
    ....
  74. ncbi request reprint Primary epithelioid sarcoma of the oesophagus
    Francesca Maggiani
    Medicina Sperimentale, Universita La Sapienza Roma, Rome, Italy
    Virchows Arch 451:835-8. 2007
    ..We report a hitherto undescribed epithelioid sarcoma of the distal oesophagus and discuss the relevance of molecular cytogenetics...
  75. ncbi request reprint Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KIT K642E mutation
    Janet Graham
    Beatson Oncology Centre, Glasgow, United Kingdom
    Arch Pathol Lab Med 131:1393-6. 2007
    ..To our knowledge, this is only the second germline example of this particular mutation. The patient's esophageal tumors were stabilized with imatinib...
  76. ncbi request reprint Different factors are responsible for predicting relapses after primary tumors resection and for imatinib treatment outcomes in gastrointestinal stromal tumors
    Piotr Rutkowski
    Department of Soft Tissue Bone Sarcoma and Melanoma, M Sklodowska Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland
    Med Sci Monit 13:CR515-522. 2007
    ....
  77. ncbi request reprint 12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH
    Gaetano Zafarana
    Pathology Laboratory for Exp Patho Oncology, Erasmus MC Erasmus University Medical Center Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
    Oncogene 22:7695-701. 2003
    ..These data support a mechanistic model in which at least two 12p genes, situated at the border regions of the amplicon, are positional candidates capable of actively supporting tumor progression in TGCTs...
  78. ncbi request reprint Atypical lipomatous tumor in a 14-year-old patient: distinction from lipoblastoma using FISH analysis
    Cornelius Kuhnen
    Institute for Pathology, University Hospital Bergmannsheil, Burkle de la Camp Platz 1, 44789 Bochum, Germany
    Virchows Arch 441:299-302. 2002
    ..This case shows that FISH can serve as a decisive tool in the differential diagnosis of lipoblastoma and lipoma-like liposarcoma apart from its role in distinction between lipoblastoma and myxoid/round cell liposarcoma...
  79. doi request reprint Clinicopathologic profile of gastrointestinal stromal tumors (GISTs) with primary KIT exon 13 or exon 17 mutations: a multicenter study on 54 cases
    Jerzy Lasota
    Department of Soft Tissue Pathology, Armed Forces Institute of Pathology, Washington, DC 20306 6000, USA
    Mod Pathol 21:476-84. 2008
    ..The latter is also true for all KIT exon 17 mutant GISTs...
  80. ncbi request reprint Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors
    Anna Dahlén
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Int J Cancer 103:616-23. 2003
    ..Our findings strongly indicate that deletion of a limited region (approximately 2.5 Mbp) within 13q14, distal to the RB1-locus, is of importance in the development of a subset of lipomatous tumors...
  81. doi request reprint Soft tissue sarcomas: ESMO clinical recommendations for diagnosis, treatment and follow-up
    P G Casali
    Department of Cancer Medicine, Istituto Nazionale dei Tumori, Milan, Italy
    Ann Oncol 19:ii89-93. 2008
  82. ncbi request reprint Inflammatory myofibroblastic tumor with ALK/TPM3 fusion presenting as ileocolic intussusception: an unusual presentation of an unusual neoplasm
    Anya N A Milne
    Department of Pathology, Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands
    Hum Pathol 37:112-6. 2006
    ....
  83. ncbi request reprint Ring chromosome 6 may represent a cytogenetic subgroup in benign thymoma
    Ivo Van den Berghe
    AZ St Jan, Department of Pathology, Ruddershove 10, 8000, Bruges, Belgium
    Cancer Genet Cytogenet 137:75-7. 2002
    ..This finding, together with literature data, strongly suggests that terminal deletion of the short arm of chromosome 6 is a recurrent aberration in thymoma...
  84. doi request reprint Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p
    Katarzyna Gawlik-Kuklinska
    Department of Biology and Genetics, Medical University of Gdansk, ul Debinki 1, 80 211 Gdansk, Poland
    Eur J Med Genet 51:165-71. 2008
    ..Additionally, our patient developed a seizure disorder due to abnormal neuronal migration, i.e., periventricular heterotopia...
  85. doi request reprint Multiple primary sporadic gastrointestinal stromal tumors in the adult: an underestimated entity
    Daniela Gasparotto
    Experimental Oncology I, CRO National Cancer Institute, Aviano, Italy
    Clin Cancer Res 14:5715-21. 2008
    ..Whether, indeed, the detection of several lesions in sporadic adult GIST patients may be suggestive of phenomena of tumor multiplicity still needs to be clarified...
  86. ncbi request reprint Gastrointestinal stromal tumors: key to diagnosis and choice of therapy
    Piotr Rutkowski
    Department of Soft Tissue Bone Sarcoma and Melanoma, M Sklodowska Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland
    Mol Diagn Ther 12:131-43. 2008
    ..This article discusses the histologic and molecular criteria for distinguishing GISTs from other types of sarcoma, and the molecular diagnostic tools that are currently available or in development to assist in therapy decisions...
  87. doi request reprint Gastrointestinal stromal tumors: ESMO clinical recommendations for diagnosis, treatment and follow-up
    P G Casali
    Department of Cancer Medicine, Istituto Nazionale dei Tumori, Milan, Italy
    Ann Oncol 19:ii35-8. 2008
  88. ncbi request reprint Risk criteria and prognostic factors for predicting recurrences after resection of primary gastrointestinal stromal tumor
    Piotr Rutkowski
    Department of Soft Tissue Bone Sarcoma and Melanoma, M Sklodowska Curie Memorial Cancer Center and Institute of Oncology, Roentgena 5, 02 781, Warsaw, Poland
    Ann Surg Oncol 14:2018-27. 2007
    ..The introduction of adjuvant imatinib in gastrointestinal stromal tumors (GISTs) raised debate over the accuracy of National Institutes of Health risk criteria and the significance of other prognostic factors in GIST...
  89. ncbi request reprint Uterine gastrointestinal stromal tumour (GIST)
    Chantal B M Wingen
    Department of Obstetrics and Gynaecology, University Hospital Maastricht, P Debeyelaan 25, 6229 HX Maastricht, The Netherlands
    Gynecol Oncol 97:970-2. 2005
    ..In recent years, other locations such as the mesentery and the retroperitoneum have been reported...
  90. ncbi request reprint Dedifferentiated liposarcoma with extensive lymphoid component
    Cornelius Kuhnen
    Institute for Pathology, Limb tumor registry, Ruhr University, University Hospital Bergmannsheil, Burkle de la Camp Platz 1, D 44789 Bochum, Germany
    Pathol Res Pract 201:347-53. 2005
    ..An extensive lymphoid "overgrowth" must be considered within the spectrum of unusual variants and in the differential diagnosis of dedifferentiated liposarcoma...
  91. ncbi request reprint Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22)
    Clelia Tiziana Storlazzi
    Department of Genetics and Microbiology, University of Bari, Bari, Italy
    Int J Cancer 118:1972-6. 2006
    ..Further investigations on the transcript level are required to elucidate the functional outcome of the t(X;6) translocation in subungual exostoses...
  92. ncbi request reprint Local recurrence of myxofibrosarcoma is associated with increase in tumour grade and cytogenetic aberrations, suggesting a multistep tumour progression model
    Stefan M Willems
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    Mod Pathol 19:407-16. 2006
    ..Based on these findings, we suggest that tumorigenesis of myxofibrosarcoma is mainly a multistep genetic process, probably ruled by genetic instability caused by targeted checkpoint genes...