Ioannis Panagopoulos

Summary

Affiliation: University Hospital
Country: Sweden

Publications

  1. ncbi RT-PCR analysis of the MOZ-CBP and CBP-MOZ chimeric transcripts in acute myeloid leukemias with t(8;16)(p11;p13)
    I Panagopoulos
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 28:415-24. 2000
  2. ncbi Clinical impact of molecular and cytogenetic findings in synovial sarcoma
    I Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, SE 221 85 Lund, Sweden
    Genes Chromosomes Cancer 31:362-72. 2001
  3. ncbi Expression of NUP98/TOP1, but not of TOP1/NUP98, in a treatment-related myelodysplastic syndrome with t(10;20;11)(q24;q11;p15)
    Ioannis Panagopoulos
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 34:249-54. 2002
  4. ncbi 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
  5. ncbi Absence of mutations of the BRAF gene in malignant melanoma of soft parts (clear cell sarcoma of tendons and aponeuroses)
    Ioannis Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, S 221 85 Lund, Sweden
    Cancer Genet Cytogenet 156:74-6. 2005
  6. ncbi 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
  7. ncbi Genomic characterization of MOZ/CBP and CBP/MOZ chimeras in acute myeloid leukemia suggests the involvement of a damage-repair mechanism in the origin of the t(8;16)(p11;p13)
    Ioannis Panagopoulos
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 36:90-8. 2003
  8. ncbi Fusion of the NUP98 gene and the homeobox gene HOXC13 in acute myeloid leukemia with t(11;12)(p15;q13)
    Ioannis Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, Sweden
    Genes Chromosomes Cancer 36:107-12. 2003
  9. ncbi Expression of DOL54 is not restricted to myxoid liposarcomas with the FUS-DDIT3 chimera but is found in various sarcomas
    Ioannis Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Oncol Rep 12:107-10. 2004
  10. ncbi MLL/GRAF fusion in an infant acute monocytic leukemia (AML M5b) with a cytogenetically cryptic ins(5;11)(q31;q23q23)
    Ioannis Panagopoulos
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Genes Chromosomes Cancer 41:400-4. 2004

Detail Information

Publications86

  1. ncbi RT-PCR analysis of the MOZ-CBP and CBP-MOZ chimeric transcripts in acute myeloid leukemias with t(8;16)(p11;p13)
    I Panagopoulos
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 28:415-24. 2000
    ..The present RT-PCR method may be of value for rapid identification of the t(8;16) and also for further molecular genetic studies of the two fusion transcripts and their roles in leukemogenesis...
  2. ncbi Clinical impact of molecular and cytogenetic findings in synovial sarcoma
    I Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, SE 221 85 Lund, Sweden
    Genes Chromosomes Cancer 31:362-72. 2001
    ..This corresponded to 5-year metastasis-free survival rates of 0.58 and 0.0, respectively (P = 0.02)...
  3. ncbi Expression of NUP98/TOP1, but not of TOP1/NUP98, in a treatment-related myelodysplastic syndrome with t(10;20;11)(q24;q11;p15)
    Ioannis Panagopoulos
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 34:249-54. 2002
    ....
  4. ncbi 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...
  5. ncbi Absence of mutations of the BRAF gene in malignant melanoma of soft parts (clear cell sarcoma of tendons and aponeuroses)
    Ioannis Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, S 221 85 Lund, Sweden
    Cancer Genet Cytogenet 156:74-6. 2005
    ..Our data further emphasize that MMSP and conventional malignant melanoma develop through different genetic pathways...
  6. ncbi 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
    ....
  7. ncbi Genomic characterization of MOZ/CBP and CBP/MOZ chimeras in acute myeloid leukemia suggests the involvement of a damage-repair mechanism in the origin of the t(8;16)(p11;p13)
    Ioannis Panagopoulos
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 36:90-8. 2003
    ..Thus, the t(8;16) does not originate through a simple end-to-end fusion. The findings of multiple breaks and rearrangements rather suggest the involvement of a damage-repair mechanism in the origin of this translocation...
  8. ncbi Fusion of the NUP98 gene and the homeobox gene HOXC13 in acute myeloid leukemia with t(11;12)(p15;q13)
    Ioannis Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, Sweden
    Genes Chromosomes Cancer 36:107-12. 2003
    ..The present results, together with previous studies of NUP98/homeobox gene fusions, strongly indicate that NUP98/HOXC13 is of pathogenetic importance in t(11;12)-positive acute myeloid leukemia...
  9. ncbi Expression of DOL54 is not restricted to myxoid liposarcomas with the FUS-DDIT3 chimera but is found in various sarcomas
    Ioannis Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Oncol Rep 12:107-10. 2004
    ..The results of our study clearly show that expression of DOL54 is not only a characteristic feature of MLS with the FUS-DDIT3 chimera but that this is a frequent finding also in various other sarcomas...
  10. ncbi MLL/GRAF fusion in an infant acute monocytic leukemia (AML M5b) with a cytogenetically cryptic ins(5;11)(q31;q23q23)
    Ioannis Panagopoulos
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Genes Chromosomes Cancer 41:400-4. 2004
    ..On the basis of the now-reported two cases with MLL/GRAF, we conclude that this transcript--but not the reciprocal one--characterizes a rare genetic subgroup of infant AML...
  11. ncbi A novel FUS/CHOP chimera in myxoid liposarcoma
    I Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, Lund, S 221 85, Sweden
    Biochem Biophys Res Commun 279:838-45. 2000
    ..Genomic analyses revealed that the breaks were located at the end of exon 14/beginning of intron 14 of FUS and in intron 1 of CHOP and that microdeletions had occurred in the close vicinity of the breakpoints...
  12. ncbi Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13)
    I Panagopoulos
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Hum Mol Genet 10:395-404. 2001
    ..Since both fusion transcripts were present, their exact role in the leukemogenic process remains to be elucidated...
  13. doi High-resolution molecular cytogenetic analysis of Wilms tumors highlights diagnostic difficulties among small round cell kidney tumors
    Ylva Stewénius
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 47:845-52. 2008
    ..The fact that no recurrent translocations were found in the WTs of this study argues against the presence of a frequent pathognomonic translocation in this disease entity...
  14. ncbi The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcoma
    Ioannis Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 40:218-28. 2004
    ..The results indicated that FUS/CREB3L2 is specifically associated with LGFMS and that RT-PCR or FISH analysis may be useful for the differential diagnosis...
  15. ncbi Fusion genes in angiomatoid fibrous histiocytoma
    Karolin H Hallor
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Cancer Lett 251:158-63. 2007
    ..Nonetheless, RT-PCR for these fusion transcripts remains a valuable diagnostic adjunct in the distinction between AFH and other soft tissue tumors or metastases that may simulate it...
  16. ncbi Heterogeneous genetic profiles in soft tissue myoepitheliomas
    Karolin H Hallor
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Mod Pathol 21:1311-9. 2008
    ....
  17. ncbi Molecular genetic characterization of the genomic ACTB-GLI fusion in pericytoma with t(7;12)
    Anna Dahlén
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Biochem Biophys Res Commun 325:1318-23. 2004
    ..Whereas large repeats or recombinase recognition sequences were not detected, sequences of shared oligonucleotides, possibly important for recombination, were found in the proximity of the respective breakpoints...
  18. 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
    ....
  19. ncbi Assessment of the clinical and molecular impact of different cytogenetic subgroups in a series of 272 lipomas with abnormal karyotype
    Hammurabi Bartuma
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 46:594-606. 2007
    ..By FISH, we could also show that breakpoints in bands 10q22-23 do not affect the MYST4 gene, whereas breakpoints in 6p21 or 8q11-12 occasionally target the HMGA1 or PLAG1 genes, respectively, also in conventional lipomas...
  20. pmc Expression levels of HMGA2 in adipocytic tumors correlate with morphologic and cytogenetic subgroups
    Hammurabi Bartuma
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Mol Cancer 8:36. 2009
    ....
  21. doi Two genetic pathways, t(1;10) and amplification of 3p11-12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour, and morphologically similar lesions
    Karolin H Hallor
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    J Pathol 217:716-27. 2009
    ..The identified genetic aberrations were not confined to MIFS; an identical t(1;10) was also found in a case of HFT and the amplicon in 3p was seen in an IMFH...
  22. ncbi Bidirectionality and transcriptional activity of the EWSR1 promoter region
    Emely Möller
    Department of Clinical Genetics, Lund University Hospital, SE 221 85 Lund, Sweden
    Oncol Rep 21:641-8. 2009
    ..Thus, our results show that the EWSR1 promoter functions in a bidirectional manner, thereby regulating also RHBDD3, and identifies specific regions that strongly influence promoter activity...
  23. ncbi Molecular cytogenetic characterization of an ins(4;X) occurring as the sole abnormality in an aggressive, poorly differentiated soft tissue sarcoma
    Cecilia Surace
    Department of Clinical Genetics, Lund University Hospital, SE 221 85, Lund, Sweden
    Virchows Arch 447:869-74. 2005
    ..Our results suggest that BCOR and/or an ECM-like protein could be involved in the pathogenesis of a subgroup of PNET or PNET-like sarcomas...
  24. ncbi Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma
    Clelia Tiziana Storlazzi
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Hum Mol Genet 12:2349-58. 2003
    ..The FUS/BBF2H7 chimera codes for a protein containing the N-terminus of FUS and the B-ZIP domain and the C-terminus of BBF2H7...
  25. ncbi 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...
  26. ncbi A novel fusion gene, SS18L1/SSX1, in synovial sarcoma
    Clelia Tiziana Storlazzi
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 37:195-200. 2003
    ..Thus, the existence of genetic heterogeneity has to be taken into account when RT-PCR is used for the diagnosis of synovial sarcoma...
  27. ncbi Fusion of the EWSR1 and ATF1 genes without expression of the MITF-M transcript in angiomatoid fibrous histiocytoma
    Karolin Hansén Hallor
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 44:97-102. 2005
    ....
  28. ncbi Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12)
    Ioannis Panagopoulos
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Br J Haematol 136:294-6. 2007
    ..SETBP1 has previously not been implicated in leukaemias; however, it encodes a protein that specifically interacts with SET, fused to NUP214 in a case of acute undifferentiated leukaemia...
  29. ncbi Fusion of the EWS and CHOP genes in myxoid liposarcoma
    I Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, Sweden
    Oncogene 12:489-94. 1996
    ....
  30. ncbi Tiling resolution array comparative genomic hybridization, expression and methylation analyses of dup(1q) in Burkitt lymphomas and pediatric high hyperdiploid acute lymphoblastic leukemias reveal clustered near-centromeric breakpoints and overexpression o
    Josef Davidsson
    Department of Clinical Genetics, Lund University Hospital, Sweden
    Hum Mol Genet 16:2215-25. 2007
    ..However, involvement of these genes in dup(1q)-positive ALLs and BLs has previously not been reported...
  31. ncbi Characterisation of genomic translocation breakpoints and identification of an alternative TCF3/PBX1 fusion transcript in t(1;19)(q23;p13)-positive acute lymphoblastic leukaemias
    Kajsa Paulsson
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Br J Haematol 138:196-201. 2007
    ..The PBX1 breakpoints were more dispersed, although still clustered in two regions. This confirms that most t(1;19) rearrangements may arise by a combination of illegitimate V(D)J recombination and non-homologous end joining...
  32. ncbi A novel FISH assay for SS18-SSX fusion type in synovial sarcoma
    Cecilia Surace
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Lab Invest 84:1185-92. 2004
    ..Thus, the assay described here should be useful for clarifying unresolved chromosome markers and for identifying fusion gene status in samples from which RNA of sufficient quality for PCR could not be extracted...
  33. ncbi Identification of genes differentially expressed in TLS-CHOP carrying myxoid liposarcomas
    S Thelin-Järnum
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Int J Cancer 83:30-3. 1999
    ..MLAT1, 2 and 6 show high similarity to glia-derived nexin, neuronatin and the RET oncogene, respectively, all normally involved in development of tissues of neural origin. MLAT3 to MLAT5 represent new genes...
  34. ncbi Comparison of the proximal promoter regions of the PAX3 and PAX7 genes
    Emely Möller
    Department of Clinical Genetics, Lund University Hospital, Getingevagen 4, 221 85, Lund, Sweden
    Cancer Genet Cytogenet 178:114-9. 2007
    ..These findings are consistent with the idea that an amplification event is required for the PAX7-FOXO1A chimeric transcript to reach a critical expression level...
  35. pmc HIF1alpha isoforms in benign and malignant prostate tissue and their correlation to neuroendocrine differentiation
    Nastaran Monsef
    Department of Laboratory Medicine, Division of Pathology, Lund University Hospital, Sweden
    BMC Cancer 10:385. 2010
    ..The aim of this study was to elucidate whether the cytoplasmic stabilization of HIF1alpha in androgen independent NE differentiated prostate cancer is due to the presence of certain HIF1alpha isoforms...
  36. ncbi An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera
    Ioannis Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, SE 221 85 Lund, Sweden
    Cancer Genet Cytogenet 185:74-7. 2008
    ..The present cell line constitutes an excellent model for further studies on the impact of the JAZF1/PHF1 fusion...
  37. ncbi The POU5F1P1 pseudogene encodes a putative protein similar to POU5F1 isoform 1
    Ioannis Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Oncol Rep 20:1029-33. 2008
    ..However, POU5F1P1 was a weaker activator than isoform 1 of POU5F1, possibly due to the amino acid substitutions...
  38. ncbi Fusion, disruption, and expression of HMGA2 in bone and soft tissue chondromas
    Anna Dahlén
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Mod Pathol 16:1132-40. 2003
    ..A truncated or full-length transcript was found in 8 of 13 chondrosarcomas, 4 of which displayed 12q rearrangements. Possibly, cryptic rearrangements were present among the many complex marker chromosomes in the remaining 4 cases...
  39. ncbi Characterization of the native CREB3L2 transcription factor and the FUS/CREB3L2 chimera
    Ioannis Panagopoulos
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 46:181-91. 2007
    ..Thus, studies regarding the pathways influenced by wild-type CREB3L2 should provide valuable clues to the pathogenetic significance of the FUS/CREB3L2 chimera in low grade fibromyxoid sarcoma...
  40. ncbi Establishment and characterisation of a human clear cell sarcoma model in nude mice
    Sead Crnalic
    Department of Orthopaedics, University Hospital, Umea, Sweden
    Int J Cancer 101:505-11. 2002
    ..The retained phenotypic and genotypic characteristics of the primary tumour and the morphological and structural stability over time makes the model suitable for studies on the tumour biology and treatment of clear cell sarcoma...
  41. ncbi Characterization of an alternative transcript of the human CREB3L2 gene
    Ioannis Panagopoulos
    Department of Clinical Genetics, University and Regional Laboratories, Lund University Hospital, Lund University, Lund, Sweden
    Oncol Rep 24:1133-9. 2010
    ..Whether this transcript has a cellular function or is targeted for degradation by nonsense-mediated RNA decay system of RNA surveillance is currently unknown...
  42. ncbi Gene expression profiles relate to SS18/SSX fusion type in synovial sarcoma
    Josefin Fernebro
    Department of Oncology, Lund University, SE 221 85 Lund, Sweden
    Int J Cancer 118:1165-72. 2006
    ..In conclusion, our findings demonstrate differentially expressed genes for the 2 major gene fusion variants in SS, SS18/SSX1 and SS18/SSX2, and thereby suggest that these result in different downstream effects...
  43. ncbi Fusion of the COL1A1 and USP6 genes in a benign bone tumor
    Ioannis Panagopoulos
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Cancer Genet Cytogenet 180:70-3. 2008
    ..Although a pathogenic effect of the small COL1A1 peptide cannot be ruled out, overexpression of USP6 through fusion with the COL1A1 promoter is a more reasonable hypothesis...
  44. doi A PCR/restriction digestion assay for the detection of the transcript variants 1 and 2 of POU5F1
    Ioannis Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, SE 221 85 Lund, Sweden
    Genes Chromosomes Cancer 47:521-9. 2008
    ..This trace amount of DNA is a source of false positive RT-PCR amplifications. This article contains Supplementary Material available at http://www.interscience.wiley.com/jpages/1045-2257/suppmat...
  45. pmc When the genome plays dice: circumvention of the spindle assembly checkpoint and near-random chromosome segregation in multipolar cancer cell mitoses
    David Gisselsson
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    PLoS ONE 3:e1871. 2008
    ..Such multipolar mitoses have been proposed to generate genetic diversity and thereby contribute to clonal evolution. However, this notion has been little validated experimentally...
  46. pmc Midline carcinoma with t(15;19) and BRD4-NUT fusion oncogene in a 30-year-old female with response to docetaxel and radiotherapy
    Jens Engleson
    Department of Oncology, Lund University Hospital, SE 221 85, Lund, Sweden
    BMC Cancer 6:69. 2006
    ..This tumor affects young individuals, shows a rapidly fatal clinical course despite intensive therapy. The t(15;19) results in the fusion oncogene BRD4-NUT. Information concerning treatment of this rare disorder is scarce...
  47. ncbi Fusion of the SEC31L1 and ALK genes in an inflammatory myofibroblastic tumor
    Ioannis Panagopoulos
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Int J Cancer 118:1181-6. 2006
    ..In the short, type II, transcript nt 2670 of SEC31L1 was fused in-frame to nt 4080 of ALK. Genomic PCR and subsequent sequencing showed that the breakpoints were located in intron 23 of SEC31L1 and intron 20 of ALK...
  48. ncbi Fusion of RDC1 with HMGA2 in lipomas as the result of chromosome aberrations involving 2q35-37 and 12q13-15
    Karin Broberg
    Department of Occupational and Environmental Medicine, University Hospital, SE 221 85 Lund, Sweden
    Int J Oncol 21:321-6. 2002
    ..The breakpoint within RDC1 was localized in a previously uncharacterized exon of the gene, and our data suggest that RDC1 is subject to alternative splicing...
  49. ncbi Fusion of ETV6 with an intronic sequence of the BAZ2A gene in a paediatric pre-B acute lymphoblastic leukaemia with a cryptic chromosome 12 rearrangement
    Ioannis Panagopoulos
    Department of Clinical Genetics, Lund University, University Hospital, Lund, Sweden
    Br J Haematol 133:270-5. 2006
    ..The present case emphasises that 'unproductive' ETV6 rearrangements may play an important pathogenetic role in leukaemia...
  50. doi Genomic characteristics of soft tissue sarcomas
    Fredrik Mertens
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Virchows Arch 456:129-39. 2010
    ....
  51. pmc Fusion of the tumor-suppressor gene CHEK2 and the gene for the regulatory subunit B of protein phosphatase 2 PPP2R2A in childhood teratoma
    Yuesheng Jin
    Department of Clinical Genetics, Lund University Hospital, 221 85 Lund, Sweden
    Neoplasia 8:413-8. 2006
    ..Our findings suggest that deregulation of CHEK2 and/or PPP2R2A is of pathogenetic importance in at least a subset of germ cell tumors...
  52. ncbi Molecular identification of COL6A3-CSF1 fusion transcripts in tenosynovial giant cell tumors
    Emely Möller
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 47:21-5. 2008
    ..The pathogenetic mechanism of these chimeric transcripts is therefore unclear...
  53. doi Promoter analysis of epigenetically controlled genes in bladder cancer
    Srinivas Veerla
    Department of Clinical Genetics, Lund University Hospital, SE 22185, Lund, Sweden
    Genes Chromosomes Cancer 47:368-78. 2008
    ..This article contains supplementary material available via the Internet at http://www.interscience.wiley.com/jpages/1045-2257/suppmat...
  54. doi The expression of pluripotency marker Oct 3/4 in prostate cancer and benign prostate hyperplasia
    Nastaran Monsef
    Division of Pathology, Department of Laboratory Medicine, Lund University Hospital, Lund, Sweden
    Prostate 69:909-16. 2009
    ..The objective of this study was to investigate the transcription and the protein expression of Oct 3/4 isoforms in prostate cancer and benign prostate tissue...
  55. doi POU5F1, encoding a key regulator of stem cell pluripotency, is fused to EWSR1 in hidradenoma of the skin and mucoepidermoid carcinoma of the salivary glands
    E Moller
    Department of Clinical Genetics, Lund University Hospital, SE 221 85 Lund, Sweden
    J Pathol 215:78-86. 2008
    ..Our results show that although the chimera is capable of significant transcriptional activation, it may in fact convey a negative regulatory effect on target genes...
  56. ncbi Truncation and fusion of HMGA2 in lipomas with rearrangements of 5q32-->q33 and 12q14-->q15
    M Nilsson
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Cytogenet Genome Res 112:60-6. 2006
    ....
  57. ncbi A novel and cytogenetically cryptic t(7;21)(p22;q22) in acute myeloid leukemia results in fusion of RUNX1 with the ubiquitin-specific protease gene USP42
    K Paulsson
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Leukemia 20:224-9. 2006
    ..Its involvement in the t(7;21) suggests that deregulation of ubiquitin-associated pathways may be pathogenetically important in AML...
  58. ncbi Characterization of the human CREB3L2 gene promoter
    Ioannis Panagopoulos
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Oncol Rep 21:615-24. 2009
    ..The presence of the CRE site indicates autoregulation of CREB3L2 and/or regulation via other members of the CREB3 family or a variety of bZIP transcription factors...
  59. ncbi A methylation PCR approach for detection of fragile X syndrome
    I Panagopoulos
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Hum Mutat 14:71-9. 1999
    ..We applied our method on 25 males previously diagnosed by Southern blot analysis. All the samples were easily and accurately diagnosed. The method has considerable advantages compared with other diagnostic tests for fragile X syndrome...
  60. ncbi Expression analysis and chromosomal mapping of a novel human gene, APRIL, encoding an acidic protein rich in leucines
    M Mencinger
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Biochim Biophys Acta 1395:176-80. 1998
    ..APRIL has high similarity to human pp32, also named PHAPI (bovine I[PP2A]1), and to rat LANP, respectively. APRIL shows tissue-specific expression as shown by Northern blot analysis. It was localized to 15q25 by FISH...
  61. ncbi Fusion of the HMGA2 and NFIB genes in lipoma
    M Nilsson
    Department of Clinical Genetics, University Hospital, 221 85 Lund, Sweden
    Virchows Arch 447:855-8. 2005
    ..Since similar 9;12 translocations have been described also in rare cases of hamartoma and uterine leiomyoma, the occurrence of HMGA2/NFIB could be postulated in these tumors as well...
  62. ncbi No EWS/FLI1 fusion transcripts in giant-cell tumors of bone
    I Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Int J Cancer 93:769-72. 2001
    ..On the basis of these results, we conclude that translocations leading to fusion of the EWS and FLI1 genes are not part of the pathogenesis of GCT...
  63. ncbi Characterization and chromosomal mapping of the human TFG gene involved in thyroid carcinoma
    M Mencinger
    Department of Clinical Genetics, University Hospital of Lund, Sweden
    Genomics 41:327-31. 1997
    ..TFG was localized to 3q11-q12 by fluorescence in situ hybridization. The 3' and the 5' ends of the TFG cDNA probe hybridized to a 2.2-kb band on Northern blot filters in all tissues examined...
  64. ncbi Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11)
    I Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, S 221 85 Lund, Sweden
    Oncogene 18:7594-8. 1999
    ....
  65. ncbi Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder: the first fusion gene involving BCR but not ABL
    T Fioretos
    Department of Clinical Genetics, Lund University Hospital, Sweden
    Genes Chromosomes Cancer 32:302-10. 2001
    ....
  66. ncbi Genetic characterization of bone and soft tissue tumors
    N Mandahl
    Dept of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Acta Orthop Scand Suppl 75:21-8. 2004
  67. ncbi Retained heterodisomy for chromosome 12 in atypical lipomatous tumors: implications for ring chromosome formation
    F Mertens
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Cytogenet Genome Res 106:33-8. 2004
    ..The molecular genetic analyses showed that the tumor cells always retained both parental copies of chromosome 12, thus refuting the trisomy 12 and duplication hypotheses...
  68. ncbi Molecular cytogenetic mapping of recurrent chromosomal breakpoints in tenosynovial giant cell tumors
    M Nilsson
    Department of Clinical Genetics, University Hospital, 221 85 Lund, Sweden
    Virchows Arch 441:475-80. 2002
    ..In four of seven cases there was a breakpoint within the sequence covered by probe 260J21, where the RDC1 gene is located, a gene reported to fuse with HMGIC in lipomas with a 2;12 translocation...
  69. ncbi Formation of trisomies and their parental origin in hyperdiploid childhood acute lymphoblastic leukemia
    Kajsa Paulsson
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Blood 102:3010-5. 2003
    ..0703). Thus, the present results indicate that imprinting is not pathogenetically important in hyperdiploid childhood ALL, with the possible exception of the observed parental skewness of +8 and +14...
  70. doi Telomeric associations correlate with telomere length reduction and clonal chromosome aberrations in giant cell tumor of bone
    S Gebre-Medhin
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Cytogenet Genome Res 124:121-7. 2009
    ..Thus, the present findings provide strong support for the notion that decreased telomere length is a prerequisite for tas in GCTBs and that the clonal changes occurring in GCTBs are derived from tas...
  71. ncbi Expression patterns of the human sarcoma-associated genes FUS and EWS and the genomic structure of FUS
    P Aman
    Department of Clinical Genetics, University Hospital of Lund, Sweden
    Genomics 37:1-8. 1996
    ..These observations indicate that FUS and EWS belong to the housekeeping type of genes. This view is supported by the presence of the housekeeping gene type of promoter region in both genes...
  72. ncbi Characterization of the CHOP breakpoints and fusion transcripts in myxoid liposarcomas with the 12;16 translocation
    I Panagopoulos
    Department of Clinical Genetics, Lund University Hospital, Sweden
    Cancer Res 54:6500-3. 1994
    ..As a consequence the normally nontranslated exon 2 is translated and in both types there is in the junction between FUS and CHOP a shift from a FUS glycine codon to a valine codon in the chimeric mRNA...
  73. ncbi A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansion
    I Panagopoulos
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Hum Mutat 13:232-6. 1999
    ..The method has considerable advantages compared with other described PCR-based diagnostic tests for HD...
  74. ncbi Cloning and sequencing of a cDNA encoding rat D-dopachrome tautomerase
    M Zhang
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    FEBS Lett 373:203-6. 1995
    ..A homology search in the EST database found a human cDNA encoding a peptide sharing 66% homology with the rat enzyme. The rat D-dopachrome tautomerase shares 27% homology with the rat macrophage migration inhibitory factor (MIF)...
  75. doi Low-grade fibromyxoid sarcoma is difficult to diagnose by fine needle aspiration cytology: a cytomorphological study of eight cases
    H A Domanski
    Department of Pathology and Cytology, Lund University Hospital, Lund, Sweden
    Cytopathology 20:304-14. 2009
    ..The diagnosis of LGFMS can be difficult to render from fine needle aspiration cytology (FNAC) alone because of morphological overlap with other spindle cell and myxoid lesions...
  76. ncbi Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma
    Francesca Micci
    Department of Cancer Genetics, The Norwegian Radium Hospital, Oslo
    Cancer Res 66:107-12. 2006
    ..The PHF1 gene encodes a protein with two zinc finger motifs whose involvement in tumorigenesis and/or tumor progression has not been reported before, but its rearrangement clearly defines a new pathogenetic subgroup of ESS...
  77. ncbi Deregulation of HMGA2 in an aggressive angiomyxoma with t(11;12)(q23;q15)
    Francesca Micci
    Department of Medical Genetics, The Norwegian Radium Hospital, 0310 Oslo, Norway
    Virchows Arch 448:838-42. 2006
    ..FISH analyses demonstrated no structural alteration of HMGA2 at the cytogenetic level; however, expression of the full-length gene was detected molecularly...
  78. ncbi Confirmation of the high frequency of the TMPRSS2/ERG fusion gene in prostate cancer
    Maria Johansson Soller
    Genes Chromosomes Cancer 45:717-9. 2006
  79. ncbi MLL/GAS7 fusion in a pediatric case of t(11;17)(q23;p13)-positive precursor B-cell acute lymphoblastic leukemia
    Ioannis Panagopoulos
    Haematologica 91:1287-8. 2006
    ..The molecular genetic features of MLL/GAS7 and the clinical impact of t(11;17) are discussed...
  80. doi Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma
    Petter Brandal
    Department of Oncology, Division of Cancer Medicine and Radiotherapy, The Norwegian Radium Hospital, Rikshospitalet University Hospital, Montebello, Oslo, Norway
    Genes Chromosomes Cancer 47:558-64. 2008
    ..Based on the structure of the novel fusion gene detected, its transforming mechanism is thought to be the same as for other fusion genes involving EWSR1 or PBX1...
  81. ncbi RT-PCR analysis of acute myeloid leukemia with t(8;16)(p11;p13): identification of a novel MOZ/CBP transcript and absence of CBP/MOZ expression
    Ioannis Panagopoulos
    Genes Chromosomes Cancer 35:372-4. 2002
  82. ncbi Fusion of the FUS and ATF1 genes in a large, deep-seated angiomatoid fibrous histiocytoma
    Emad Raddaoui
    Department of Pathology, Scott and White Memorial Hospital and Clinic, Temple, TX 76508, USA
    Diagn Mol Pathol 11:157-62. 2002
    ..Because identical fusion of the and genes has been recently reported in another case of angiomatoid fibrous histiocytoma, fusion of these genes may be characteristic for at least a subset of these tumors...
  83. ncbi Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17)
    Francesca Micci
    Department of Cancer Genetics, The Norwegian Radium Hospital, Oslo, Norway
    Cancer Genet Cytogenet 144:119-24. 2003
    ..Evidently, karyotypic, and hence pathogenetic, heterogeneity exists for tumors classified as endometrial stromal sarcomas based on their phenotypic features...
  84. ncbi C2028T polymorphism in exon 12 and dinucleotide repeat polymorphism in intron 13 of the HIF-1alpha gene define HIF-1alpha protein expression in non-small cell lung cancer
    Michael I Koukourakis
    Department of Radiotherapy Oncology, Democritus University of Thrace, Medical School, Alexandroupolis, Greece
    Lung Cancer 53:257-62. 2006
    ..In this study, we investigated whether polymorphisms of the HIF-1alpha gene may account for the patterns of HIF-1alpha protein expression in non-small cell lung carcinomas (NSCLC) and the expression of HIF-1alpha down-stream proteins...
  85. ncbi 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...
  86. ncbi Molecular cytogenetic characterization of t(14;19)(q32;p13), a new recurrent translocation in B cell malignancies
    Francesca Micci
    Department of Medical Genetics, Rikshospitalet Radiumhospitalet Medical Centre Montebello, 0310, Oslo, Norway
    Virchows Arch 450:559-65. 2007
    ..Other pathogenetic possibilities could be deregulation of the neighboring NOTCH3 and/or ABHD9 genes, located distal to BRD4 in 19p13...