R Sciot

Summary

Affiliation: Katholieke Universiteit Leuven
Country: Belgium

Publications

  1. 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
  2. ncbi request reprint Acral myxoinflammatory fibroblastic sarcoma with unique clonal chromosomal changes
    I Lambert
    Department of Pathology, University of Leuven, University Hospital St. Rafael, Belgium
    Virchows Arch 438:509-12. 2001
  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. pmc Genome-wide analysis of Ollier disease: Is it all in the genes?
    Twinkal C Pansuriya
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    Orphanet J Rare Dis 6:2. 2011
  5. ncbi request reprint Collagenous fibroma (desmoplastic fibroblastoma): genetic link with fibroma of tendon sheath?
    R Sciot
    Department of Pathology, University of Leuven, Belgium
    Mod Pathol 12:565-8. 1999
  6. ncbi request reprint Analysis of 35 cases of localized and diffuse tenosynovial giant cell tumor: a report from the Chromosomes and Morphology (CHAMP) study group
    R Sciot
    Department of Pathology, University of Leuven, Belgium
    Mod Pathol 12:576-9. 1999
  7. ncbi request reprint Cytogenetic-morphologic correlations in aneurysmal bone cyst, giant cell tumor of bone and combined lesions. A report from the CHAMP study group
    R Sciot
    Department of Pathology, University of Leuven, Belgium
    Mod Pathol 13:1206-10. 2000
  8. ncbi request reprint Angiomyxolipoma shares cytogenetic changes with lipoma, spindle cell/pleomorphic lipoma and myxoma
    R Sciot
    University Hospital St Raphael, Department of Pathology, Katholieke Universiteit Leuven, Belgium
    Virchows Arch 438:66-9. 2001
  9. 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
  10. ncbi request reprint Calcifying/ossifying synovial sarcoma shows t(X;18) with SSX2 involvement and mitochondrial calcifications
    V Winnepenninckx
    Department of Pathology, University Hospitals, KU Leuven, Belgium
    Histopathology 38:141-5. 2001

Collaborators

Detail Information

Publications91

  1. 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...
  2. ncbi request reprint Acral myxoinflammatory fibroblastic sarcoma with unique clonal chromosomal changes
    I Lambert
    Department of Pathology, University of Leuven, University Hospital St. Rafael, Belgium
    Virchows Arch 438:509-12. 2001
    ..The presence of these clonal chromosomal changes supports the neoplastic nature of acral myxoinflammatory fibroblastic sarcoma and underscores that it represents a separate entity...
  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. pmc Genome-wide analysis of Ollier disease: Is it all in the genes?
    Twinkal C Pansuriya
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    Orphanet J Rare Dis 6:2. 2011
    ..The risk of malignant transformation towards central chondrosarcoma (CS) is increased up to 35%. The aetiology of Ollier disease is unknown...
  5. ncbi request reprint Collagenous fibroma (desmoplastic fibroblastoma): genetic link with fibroma of tendon sheath?
    R Sciot
    Department of Pathology, University of Leuven, Belgium
    Mod Pathol 12:565-8. 1999
    ..11q12 might be a common genetic denominator of benign fibroblastic lesions, such as collagenous fibroma and fibroma of tendon sheath...
  6. ncbi request reprint Analysis of 35 cases of localized and diffuse tenosynovial giant cell tumor: a report from the Chromosomes and Morphology (CHAMP) study group
    R Sciot
    Department of Pathology, University of Leuven, Belgium
    Mod Pathol 12:576-9. 1999
    ....
  7. ncbi request reprint Cytogenetic-morphologic correlations in aneurysmal bone cyst, giant cell tumor of bone and combined lesions. A report from the CHAMP study group
    R Sciot
    Department of Pathology, University of Leuven, Belgium
    Mod Pathol 13:1206-10. 2000
    ..In combined giant cell tumor/aneurysmal bone cyst each component seems to retain its own karyotypic abnormality...
  8. ncbi request reprint Angiomyxolipoma shares cytogenetic changes with lipoma, spindle cell/pleomorphic lipoma and myxoma
    R Sciot
    University Hospital St Raphael, Department of Pathology, Katholieke Universiteit Leuven, Belgium
    Virchows Arch 438:66-9. 2001
    ..The karyotype showed a 46,XX,t(7;13)(p15;q14),t(8;12)(q13;p13)[17]/46,XX[3]. The involvement of 13q14, 12p13, and 8q13 supports a relationship with other types of benign lipomatous and myxoid tumors...
  9. 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
    ....
  10. ncbi request reprint Calcifying/ossifying synovial sarcoma shows t(X;18) with SSX2 involvement and mitochondrial calcifications
    V Winnepenninckx
    Department of Pathology, University Hospitals, KU Leuven, Belgium
    Histopathology 38:141-5. 2001
    ..In addition, the needle-like mitochondrial calcifications give a possible clue to the pathogenesis of the extensive metaplastic ossification and calcification...
  11. 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...
  12. ncbi request reprint Aneurysmal bone cyst of the nose with 17p13 involvement
    V Winnepenninckx
    University Hospital St-Raphael, Department of Pathology, Katholieke Universiteit Leuven, Belgium
    Virchows Arch 439:636-9. 2001
    ..Fluorescent in situ hybridization analysis mapped the putative gene between the p53 (17p13.1) and the Mieller-Dieker gene (17p13.3) loci...
  13. doi request reprint Lipoblastoma in adolescents and young adults: report of six cases with FISH analysis
    N de Saint Aubain Somerhausen
    Department of Pathology, Institut Jules Bordet, Brussels, Belgium
    Histopathology 52:294-8. 2008
    ..However, we recently encountered several cases of lipoblastoma occurring in adolescents and young adults. The aim was to document the occurrence of lipoblastoma in older patients, with cytogenetic confirmation...
  14. ncbi request reprint Giant cell rich parosteal osteosarcoma
    R Sciot
    Department of Pathology, , Catholic University of Leuven, Belgium
    Histopathology 27:51-5. 1995
    ..Parosteal osteosarcoma may, on histological appearances, hardly be recognizable as malignant. In addition, unusual changes such as abundant giant cells may be misleading in the absence of clinico-pathological correlation...
  15. ncbi request reprint Epithelioid angiosarcoma of the splenic capsule. Report of a case reiterating the concept of inert foreign body tumorigenesis
    K Cokelaere
    Department of Pathology, University Hospital Gasthuisberg, St Raphael Ziekenhuis, Minderbroederstraat 12, B 3000 Leuven, Belgium
    Virchows Arch 438:398-403. 2001
    ..Clinical, radiological, and histological features of this angiosarcoma add to the validity of the concept of inert foreign body tumorigenesis in humans...
  16. 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...
  17. ncbi request reprint Hyaline vascular Castleman's disease with HMGIC rearrangement in follicular dendritic cells: molecular evidence of mesenchymal tumorigenesis
    K Cokelaere
    Department of Pathology, University Hospital St Raphael, Katholieke Universiteit Leuven, Leuven, Belgium
    Am J Surg Pathol 26:662-9. 2002
    ..It also provides a possible molecular pathway explaining stromal overgrowths and stromal neoplasms developing from this disorder...
  18. ncbi request reprint Primary mesenteric malignant mixed mesodermal (müllerian) tumor with neuroendocrine differentiation
    K Cokelaere
    Department of Pathology, University Hospital Gasthuisberg, Belgium
    Mod Pathol 14:515-20. 2001
    ..The primary mesenteric origin of the tumor was established at autopsy. Along with a brief review of previously reported extragenital MMMT some histogenetic concepts relevant to this case are discussed...
  19. pmc Coexistence of CADASIL and Alzheimer's disease
    V Thijs
    Department of Neurology, UZ Gasthuisberg, Katholieke Universiteit Leuven, Belgium
    J Neurol Neurosurg Psychiatry 74:790-2. 2003
    ..Mutations in the APP, PSEN1, and PSEN2 genes were not identified. Neuropathological findings of Alzheimer's disease may be found in CADASIL patients...
  20. 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...
  21. ncbi request reprint Delayed post-traumatic trigger finger in a 14-year-old boy after blunt trauma. A case report
    I Degreef
    Department of Orthopaedic Surgery, University Hospital Leuven, Pellenberg, Belgium
    Acta Chir Belg 107:731-2. 2007
    ..An operation with resection of the A1-pulley and resection of the nodule, that showed chondroid metaplasia and calcifications, resolved the problem completely...
  22. 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
    ....
  23. ncbi request reprint Safety and efficacy of imatinib (STI571) in metastatic gastrointestinal stromal tumours: a phase I study
    A T van Oosterom
    Department of Oncology, Nuclear Medicine and Pathology, UZ Gasthuisberg, Catholic University, Herestraat 49, B 3000, Leuven, Belgium
    Lancet 358:1421-3. 2001
    ..We did a phase I study to identify the dose-limiting toxic effects of imatinib in patients with advanced soft tissue sarcomas including GISTs...
  24. ncbi request reprint Fibrolipomatous hamartoma in the foot: atypical MR imaging findings
    I Van Breuseghem
    Department of Radiology, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium
    Skeletal Radiol 32:651-5. 2003
    ..We present a case of lipomatosis of a branch of the medial plantar nerve with an atypical appearance on magnetic resonance imaging...
  25. 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...
  26. ncbi request reprint Desmoplastic infantile ganglioglioma: a potentially malignant tumor?
    K De Munnynck
    Department of Pathology, University of Leuven, Belgium
    Am J Surg Pathol 26:1515-22. 2002
    ..The aggressive behavior and the responsiveness to chemotherapy in this case may challenge the belief in the benign nature of these rare tumors...
  27. 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...
  28. pmc Invasion and MMP expression profile in desmoid tumours
    H Denys
    Center for Human Genetics, University of Leuven, Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Br J Cancer 90:1443-9. 2004
    ..These results suggest the involvement of soluble factors, released by the desmoid cells, in stimulating invasion and implicate the MMPs as facilitators of invasion...
  29. ncbi request reprint Pneumosinus dilatans and orbital meningioma in neurofibromatosis type 2
    T Vauterin
    Department of Oto Rhino Laryngology, Head and Neck Surgery, University Hospital KULeuven, Kapucijnenvoer 33, 3000 Leuven, Belgium
    B-ENT 1:89-92. 2005
    ..Orbital and intracranial meningiomas are frequently associated with pneumosinus dilatans. This report illustrates the relationship of pneumosinus dilatans, intra-orbital meningioma and neurofibromatosis type 2...
  30. ncbi request reprint In situ localization of melanotransferrin (melanoma-associated antigen P97) in human liver. A light- and electronmicroscopic immunohistochemical study
    R Sciot
    Department of Pathology II, University Hospital St Rafael, Catholic University of Leuven, Belgium
    Liver 9:110-9. 1989
    ....
  31. 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...
  32. ncbi request reprint Lhermitte-Duclos disease: 11C-methionine positron emission tomography data in 4 patients
    Frank Van Calenbergh
    Department of Neurosurgery, University Hospital Gasthuisberg, B 3000 Leuven, Belgium
    Surg Neurol 65:293-6; discussion 296-7. 2006
    ..The nature of LDD, whether neoplastic, dysplastic, or hamartomatous, is still not exactly understood. Metabolic imaging of the amino acid metabolism using PET could be useful for noninvasive characterization of these lesions...
  33. 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...
  34. 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...
  35. 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...
  36. ncbi request reprint Initial and late resistance to imatinib in advanced gastrointestinal stromal tumors are predicted by different prognostic factors: a European Organisation for Research and Treatment of Cancer-Italian Sarcoma Group-Australasian Gastrointestinal Trials Grou
    Martine van Glabbeke
    European Organisation for Research and Treatment of Cancer Data Center, Av E Mounier, 83, Bte 8, B1200 Brussels, Belgium
    J Clin Oncol 23:5795-804. 2005
    ..This study is based on the European Organisation for Research and Treatment of Cancer-Italian Sarcoma Group-Australasian Gastrointestinal Trials Group randomized trial comparing two doses of imatinib in advanced disease...
  37. ncbi request reprint HMGA proteins in malignant peripheral nerve sheath tumor and synovial sarcoma: preferential expression of HMGA2 in malignant peripheral nerve sheath tumor
    Pei Hui
    Department of Pathology, Yale University School of Medicine, New Haven, CT 06520 8023, USA
    Mod Pathol 18:1519-26. 2005
    ..In summary, expression of HMGA2 is a feature of MPNST but not of synovial sarcoma and immunohistochemical staining of HMGA2 may be a useful marker to separate malignant peripheral nerve sheath tumor from synovial sarcoma...
  38. 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)...
  39. 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...
  40. 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...
  41. 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...
  42. ncbi request reprint EWSR1-CREB1 and EWSR1-ATF1 fusion genes in angiomatoid fibrous histiocytoma
    Sabrina Rossi
    Department of Pathology, Regional Hospital, Treviso, Italy
    Clin Cancer Res 13:7322-8. 2007
    ..We investigated the presence of EWSR1-CREB1, recently found in gastrointestinal clear cell sarcoma, and FUS-CREB1, as well as the already reported FUS-ATF1 and EWSR1-ATF1 in a series of AFH...
  43. 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...
  44. doi request reprint Postoperative adjuvant dendritic cell-based immunotherapy in patients with relapsed glioblastoma multiforme
    Steven De Vleeschouwer
    Department of Neurosurgery, Catholic University of Leuven, Leuven, Belgium
    Clin Cancer Res 14:3098-104. 2008
    ..To investigate the therapeutic role of adjuvant vaccination with autologous mature dendritic cells (DC) loaded with tumor lysates derived from autologous, resected glioblastoma multiforme (GBM) at time of relapse...
  45. ncbi request reprint Postradiation soft tissue sarcoma of the shoulder: a case report
    Philippe Debeer
    Department of Musculoskeletal Science, Division of Orthopaedics, University Hospital Pellenberg, Pellenberg, Belgium
    Acta Orthop Belg 73:521-4. 2007
    ..Initially the patient was treated for an infection of the hemiarthroplasty but subsequent removal of the loose prosthesis and biopsy revealed the presence of a malignant tumour...
  46. ncbi request reprint Non-invasive grading of brain tumours using dynamic amino acid PET imaging: does it work for 11C-methionine?
    Gerard Moulin-Romsee
    Division of Nuclear Medicine, University Hospital Leuven and K U Leuven, Herestraat 49, Leuven, Belgium
    Eur J Nucl Med Mol Imaging 34:2082-7. 2007
    ..In many centres, (11)C-methionine (MET) is used for tumour imaging, but no clinical studies on the use of dynamic scanning for grading have been performed...
  47. 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...
  48. 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...
  49. pmc Rapidly fatal Acanthamoeba encephalitis and treatment of cryoglobulinemia
    Wouter Meersseman
    Division of General Internal Medicine, Gasthuisberg University Hospital, Leuven, Belgium
    Emerg Infect Dis 13:469-71. 2007
    ..then developed. Such infections are rare and show an unusually rapid course (possibly related to rituximab)...
  50. 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...
  51. ncbi request reprint Imatinib for the treatment of patients with unresectable or metastatic malignant KIT-positive gastrointestinal stromal tumours: an open-label Belgian trial
    Hans Prenen
    Department of General Medical Oncology, Catholic University of Leuven, Leuven Cancer Institute, Leuven, Belgium
    Acta Gastroenterol Belg 69:367-71. 2006
    ..The only effective treatment for malignant GIST was surgery until 2000. Imatinib mesylate (STI571, Glivec) has shown substantial anticancer activity in patients with metastatic or unresectable GIST...
  52. 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...
  53. ncbi request reprint Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients
    Thomas De Raedt
    Center for Human Genetics, University Hospital Leuven, Catholic University of Leuven, Leuven, Belgium
    Genes Chromosomes Cancer 45:893-904. 2006
    ..We conclude that NF1 is a familial tumor syndrome in which the type of germline mutation influences the type of second hit in the tumors...
  54. ncbi request reprint Progressive multifocal leukoencephalopathy after natalizumab therapy for Crohn's disease
    Gert Van Assche
    Division of Gastroenterology, University of Leuven Hospitals, Leuven, Belgium
    N Engl J Med 353:362-8. 2005
    ..There was staining of the brain lesion for polyomavirus. This case report, along with two others, suggests that anti-alpha4-integrin therapy can result in JC virus-induced PML...
  55. 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...
  56. ncbi request reprint Acquired cerebellar cavernous angioma following childhood radiotherapy in a patient with neurofibromatosis type 1
    Frank Van Calenbergh
    Department of Neurosurgery, University Hospital Gasthuisberg, Catholic University Leuven, Belgium
    Acta Neurol Belg 103:103-6. 2003
    ..The different hypotheses concerning the de novo formation of cavernous angiomas (venous obstructive disease and genetic abnormalities) are succinctly reviewed...
  57. ncbi request reprint Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome
    Johan L K Van Hove
    Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium
    Am J Med Genet A 118:382-7. 2003
    ..The genetic basis of this new variant is still unclear. Physicians evaluating adults must remain aware of possible new adult presentations of storage conditions...
  58. ncbi request reprint Accuracy of diffusion-weighted MR imaging in the diagnosis of sporadic Creutzfeldt-Jakob disease
    Philippe Demaerel
    Department of Radiology, University Hospital, Herestraat 49, 3000 Leuven, Belgium
    J Neurol 250:222-5. 2003
    ..We suggest that diffusion-weighted MR imaging (DWI) should be included in the array of diagnostic tests because of the 100 % sensitivity and specificity...
  59. 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...
  60. ncbi request reprint Update of phase I study of imatinib (STI571) in advanced soft tissue sarcomas and gastrointestinal stromal tumors: a report of the EORTC Soft Tissue and Bone Sarcoma Group
    Allan T Van Oosterom
    Department of Oncology, Catholic University Hospital, Leuven, Belgium
    Eur J Cancer 38:S83-7. 2002
    ..In summary, imatinib is generally well tolerated and has significant activity during long-term treatment of patients with advanced GISTs...
  61. 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...
  62. 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...
  63. ncbi request reprint Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma
    Ioannis Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 35:340-52. 2002
    ....
  64. 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...
  65. 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...
  66. ncbi request reprint Translocation of the HMGI-C ( HMGA2) gene in a benign mesenchymoma (chondrolipoangioma)
    Jo Van Dorpe
    Department of Pathology, University Hospital St Raphael, Leuven Catholic University, Minderbroederstraat 12, 3000 Leuven, Belgium
    Virchows Arch 440:485-90. 2002
    ....
  67. ncbi request reprint Chromosome changes in sarcomatoid renal carcinomas are different from those in renal cell carcinomas
    Paola Dal Cin
    Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Brookline Avenue, Boston, MA, USA
    Cancer Genet Cytogenet 134:38-40. 2002
    ..Sarcomatoid transformation thus may occur occasionally in RCC without the characteristic chromosome changes but also, and perhaps more frequently, in a subgroup of RCC without the characteristic chromosome changes...
  68. ncbi request reprint Molecular genetic characterization of the EWS/ATF1 fusion gene in clear cell sarcoma of tendons and aponeuroses
    Ioannis Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, SE 221 85 Lund, Sweden
    Int J Cancer 99:560-7. 2002
    ..In addition, topoisomerase I consensus sequences were found close to the junctions, suggesting that this enzyme may participate in the genesis of the EWS/ATF1 fusion...
  69. ncbi request reprint 10q25.3 (DMBT1) copy number changes in astrocytoma grades II and IV
    Peter H Wessels
    Research Institute Growth and Development GROW, Maastricht, The Netherlands
    Genes Chromosomes Cancer 39:22-8. 2004
    ..These data indicate that selective loss of the 10q25.3 region, including the DMBT1 gene, is not an initiating event in the genesis of astrocytoma grade II...
  70. ncbi request reprint Chondroid lipoma is characterized by t(11;16)(q13;p12-13)
    Florence Ballaux
    Virchows Arch 444:208-10. 2004
  71. ncbi request reprint Long-term survival in a child with a brain stem dermoid cyst
    Frank Van Calenbergh
    Department of Neurosurgery, University Hospital Gasthuisberg, Katholieke Universiteit Leuven, B 3000 Leuven, Belgium
    Surg Neurol 63:261-3; discussion 263-4. 2005
    ..Because of the dangers of dissecting the cyst wall away from the brain stem parenchyma, some authors have advocated not to attempt a radical resection...
  72. 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...
  73. 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...
  74. ncbi request reprint Clinicopathologic and molecular genetic characterization of low-grade fibromyxoid sarcoma, and cloning of a novel FUS/CREB3L1 fusion gene
    Fredrik Mertens
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Lab Invest 85:408-15. 2005
    ..Taken together, the results indicate that virtually all LGFMS are characterized by a chimeric FUS/CREB3L2 gene, and that rare cases may display a variant FUS/CREB3L1 fusion...
  75. ncbi request reprint Transient local response and persistent tumor control in a child with recurrent malignant glioma: treatment with combination therapy including dendritic cell therapy. Case report
    Steven De Vleeschouwer
    Laboratory of Experimental Immunology, Department of Neurosurgery, Catholic University of Leuven, Belgium
    J Neurosurg 100:492-7. 2004
    ....
  76. ncbi request reprint Changing concepts in the pathological basis of soft tissue and bone sarcoma treatment
    Pancras C W Hogendoorn
    Departments of Pathology, Leiden University Medical Centre, Building 1, L1 Q, P O Box 9600, Leiden, The Netherlands
    Eur J Cancer 40:1644-54. 2004
    ..These changes in concepts, classification, and processing of soft tissue sarcomas have had impact on patient selection and treatment and formats of multi-institute trials...
  77. 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
    ....
  78. 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...
  79. 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...
  80. ncbi request reprint Differentially amplified chromosome 12 sequences in low- and high-grade osteosarcoma
    David Gisselsson
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 33:133-40. 2002
    ..These findings indicate that gain of sequences from the short arm of chromosome 12 could be a possible genetic pathway in the development of aggressive osteosarcoma...
  81. 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...
  82. 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...
  83. 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
    ....
  84. ncbi request reprint Primary peripheral PNET/Ewing's sarcoma of the dura: a clinicopathologic entity distinct from central PNET
    Franceska Dedeurwaerdere
    Department of Pathology, Katholieke Universiteit Leuven, Belgium
    Mod Pathol 15:673-8. 2002
    ..The occurrence of PNET-ES at this site is very unusual. Immunophenotypical as well as genetic analysis play a key role in the diagnosis and the distinction from central PNET...
  85. ncbi request reprint Stimulation of angiostatic platelet factor-4 variant (CXCL4L1/PF-4var) versus inhibition of angiogenic granulocyte chemotactic protein-2 (CXCL6/GCP-2) in normal and tumoral mesenchymal cells
    Jo Vandercappellen
    Laboratory of Molecular Immunology, Rega Institute, University of Leuven, Minderbroedersstraat 10, B 3000 Leuven, Belgium
    J Leukoc Biol 82:1519-30. 2007
    ..Application of angiostatic CXCL4L1/PF-4var without attraction of protumoral phagocytes may be beneficial in cancer therapy...
  86. 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...
  87. 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...
  88. ncbi request reprint Benign renal mesenchymoma in the pediatric age group: a novel pathologic and karyotype entity
    Steven Joniau
    Department of Urology, University Hospitals Leuven, Leuven, Belgium
    Urology 63:981-4. 2004
    ..The unique features of the present case were further confirmed by the karyotype changes, which to our knowledge, have never been described before in a pediatric renal tumor...
  89. ncbi request reprint Trabectedin (ET-743): evaluation of its use in advanced soft-tissue sarcoma
    Patrick Schoffski
    Leuven Cancer Institute, Department of General Medical Oncology, University Hospital Gasthuisberg, Catholic University Leuven, Herestraat 49, 3000 Leuven, Belgium
    Future Oncol 3:381-92. 2007
    ..Trabectedin is an interesting new anticancer agent that offers much promise for the treatment of advanced soft-tissue sarcoma...
  90. ncbi request reprint Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family
    Nathalie Brouwers
    VIB Department of Molecular Genetics, Neurodegenerative Brain Diseases Group, University of Antwerp CDE, Universiteitsplein 1, BE 2610 Antwerpen, Belgium
    Arch Neurol 64:1436-46. 2007
    ..Progranulin gene (PGRN) haploinsufficiency was recently associated with ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17q21 (FTLDU-17)...
  91. ncbi request reprint Intraarticular fibroma of the tendon sheath in the wrist
    Ilse Degreef
    J Hand Surg Eur Vol 32:723. 2007