F Mertens

Summary

Affiliation: University Hospital
Country: Sweden

Publications

  1. ncbi request reprint Prognostically important chromosomal aberrations in soft tissue sarcomas: a report of the Chromosomes and Morphology (CHAMP) Study Group
    Fredrik Mertens
    Department of Clinical Genetics, Lund University Hospital, SE 221 85 Lund, Sweden
    Cancer Res 62:3980-4. 2002
  2. 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
  3. ncbi request reprint Cytogenetic characterization of peripheral nerve sheath tumours: a report of the CHAMP study group
    F Mertens
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    J Pathol 190:31-8. 2000
  4. ncbi request reprint 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
  5. pmc Chromosomal breakage-fusion-bridge events cause genetic intratumor heterogeneity
    D Gisselsson
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Proc Natl Acad Sci U S A 97:5357-62. 2000
  6. ncbi request reprint The tumor-associated gene HMGIC is expressed in normal and osteoarthritis-affected synovia
    K Broberg
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Mod Pathol 14:311-7. 2001
  7. ncbi request reprint Cytogenetic analysis of 46 pleomorphic soft tissue sarcomas and correlation with morphologic and clinical features: a report of the CHAMP Study Group. Chromosomes and MorPhology
    F Mertens
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 22:16-25. 1998
  8. ncbi request reprint FISH characterization of head and neck carcinomas reveals that amplification of band 11q13 is associated with deletion of distal 11q
    Y Jin
    Department of Clinical Genetics, University Hospital Lund, Sweden
    Genes Chromosomes Cancer 22:312-20. 1998
  9. ncbi request reprint Rearrangement of the neoplasia-associated gene HMGIC in synovia from patients with osteoarthritis
    K Broberg
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 24:278-82. 1999
  10. ncbi request reprint 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

Detail Information

Publications126 found, 100 shown here

  1. ncbi request reprint Prognostically important chromosomal aberrations in soft tissue sarcomas: a report of the Chromosomes and Morphology (CHAMP) Study Group
    Fredrik Mertens
    Department of Clinical Genetics, Lund University Hospital, SE 221 85 Lund, Sweden
    Cancer Res 62:3980-4. 2002
    ..Furthermore, our results point to specific areas of the genome harboring genes that may influence the metastatic potential of sarcoma cells...
  2. 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...
  3. ncbi request reprint Cytogenetic characterization of peripheral nerve sheath tumours: a report of the CHAMP study group
    F Mertens
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    J Pathol 190:31-8. 2000
    ..The cytogenetic findings in peripheral nerve sheath tumours show that the karyotype is a good discriminator between BPNSTs and MPNSTs, and that the pattern of aberrations among the latter may add prognostic information...
  4. ncbi request reprint 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...
  5. pmc Chromosomal breakage-fusion-bridge events cause genetic intratumor heterogeneity
    D Gisselsson
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Proc Natl Acad Sci U S A 97:5357-62. 2000
    ....
  6. ncbi request reprint The tumor-associated gene HMGIC is expressed in normal and osteoarthritis-affected synovia
    K Broberg
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Mod Pathol 14:311-7. 2001
    ..From the results of the present study, it is evident that expression of HMGIC cannot simply be considered a sign of neoplasia or an effect of proliferation...
  7. ncbi request reprint Cytogenetic analysis of 46 pleomorphic soft tissue sarcomas and correlation with morphologic and clinical features: a report of the CHAMP Study Group. Chromosomes and MorPhology
    F Mertens
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 22:16-25. 1998
    ..Although the mean number of recurrent chromosome aberrations was almost twice as high in sarcomas that gave rise to metastases as among those that did not, no particular aberration was restricted to either of the two subgroups...
  8. ncbi request reprint FISH characterization of head and neck carcinomas reveals that amplification of band 11q13 is associated with deletion of distal 11q
    Y Jin
    Department of Clinical Genetics, University Hospital Lund, Sweden
    Genes Chromosomes Cancer 22:312-20. 1998
    ..We conclude that loss of gene(s) in distal 11q may be as important as amplification of genes in 11q13 for the biological aggressiveness of head and neck carcinomas...
  9. ncbi request reprint Rearrangement of the neoplasia-associated gene HMGIC in synovia from patients with osteoarthritis
    K Broberg
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 24:278-82. 1999
    ....
  10. ncbi request reprint 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...
  11. ncbi request reprint Clonal chromosome aberrations accumulate with age in upper aerodigestive tract mucosa
    C Jin
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Mutat Res 374:63-72. 1997
    ..Third, clonal chromosome aberrations, including autosomal and sex chromosome aneuploidies as well as structural rearrangements, are not restricted to neoplastic mucosal cells...
  12. doi request reprint 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...
  13. pmc Characteristic karyotypic features in lacrimal and salivary gland carcinomas
    Y Jin
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Br J Cancer 70:42-7. 1994
    ....
  14. ncbi request reprint 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...
  15. ncbi request reprint Variable stability of chromosomes containing amplified alpha-satellite sequences in human mesenchymal tumours
    D Gisselsson
    Department of Clinical Genetics, University Hospital, S 221 85 Lund, Sweden
    Chromosoma 108:271-7. 1999
    ..A propensity for additional kinetochore formation might thus be associated with the coamplification of alphoid DNA and pericentromeric sequences from chromosome 12...
  16. ncbi request reprint 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
    ....
  17. ncbi request reprint Characterization of chromosome aberrations in salivary gland tumors by FISH, including multicolor COBRA-FISH
    C Jin
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 30:161-7. 2001
    ....
  18. ncbi request reprint Cytogenetic analysis of inverted nasal papillomas and demonstration of genetic convergence during in vitro passaging
    C Jin
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Int J Cancer 70:668-73. 1997
    ....
  19. ncbi request reprint 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
    ....
  20. pmc Telomere dysfunction triggers extensive DNA fragmentation and evolution of complex chromosome abnormalities in human malignant tumors
    D Gisselsson
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Proc Natl Acad Sci U S A 98:12683-8. 2001
    ..Telomerase expression is not sufficient for completely stabilizing the chromosome complement but may be crucial for preventing complete genomic deterioration and maintaining cellular survival...
  21. pmc Abnormal nuclear shape in solid tumors reflects mitotic instability
    D Gisselsson
    Departments of Clinical Genetics, Occupational and Environmental Medicine, and Pathology, University Hospital, Lund, Sweden
    Am J Pathol 158:199-206. 2001
    ..Abnormalities in nuclear shape may thus primarily be regarded as an indicator of genetic instability and intratumor heterogeneity, independent of cytogenetic complexity and the grade of malignancy...
  22. ncbi request reprint The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cells
    D Gisselsson
    Department of Clinical Genetics, Lund University Hospital, Sweden
    Hum Genet 104:315-25. 1999
    ..We conclude that it is not only the ring structure per se or the neoplastic nature of the host cell that determines ring instability, but probably also the functional role of the genes carried in the ring...
  23. ncbi request reprint Chromosomal aberrations in breast cancer: a comparison between cytogenetics and comparative genomic hybridization
    K Persson
    The Jubileum Institute, Department of Oncology, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 25:115-22. 1999
    ..Gains and losses found by CGH represented the predominant (often aneuploid) clone, whereas the abnormal, near-diploid karyotypes represented minor cell clone(s), which, for unknown reasons, had a growth advantage in vitro...
  24. ncbi request reprint Multivariate analyses of genomic imbalances in solid tumors reveal distinct and converging pathways of karyotypic evolution
    M Hoglund
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 31:156-71. 2001
    ..It was found that the majority of the tumor types displayed more than one cytogenetic route, but, as the karyotypic evolution continued, these converged to a common pathway...
  25. pmc Cytogenetic and molecular genetic demonstration of polyclonality in an acinic cell carcinoma
    C Jin
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Br J Cancer 78:292-5. 1998
    ..By using cell cultures dominated by a single abnormal clone, obtained through in vitro culturing for 3-5 passages, we showed that the different clones must indeed have originated from different cells...
  26. ncbi request reprint 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...
  27. ncbi request reprint Karyotypic abnormalities in fibroadenomas of the breast
    C Petersson
    Department of Clinical Genetics, Lund University Hospital, Sweden
    Int J Cancer 70:282-6. 1997
    ..If so, different chromosome anomalies might have different pathogenetic and/or prognostic significance...
  28. ncbi request reprint Molecular cytogenetic characterization of the 11q13 amplicon in head and neck squamous cell carcinoma
    C Jin
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Cytogenet Genome Res 115:99-106. 2006
    ....
  29. ncbi request reprint Cytogenetic findings in invasive breast carcinomas with prognostically favourable histology: a less complex karyotypic pattern?
    A Adeyinka
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Int J Cancer 79:361-4. 1998
    ..Medullary carcinomas on the other hand, appear to have more complex karyotypes, similar to those described for the more common ductal and lobular subtypes of breast carcinoma...
  30. ncbi request reprint Nonrandom pattern of cytogenetic abnormalities in squamous cell carcinoma of the larynx
    C Jin
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 28:66-76. 2000
    ..No clear-cut karyotypic differences were found between LSCC and oral SCC, with the exception that i(8q) was significantly more frequent among the latter...
  31. ncbi request reprint 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...
  32. ncbi request reprint Centromere cleavage is a mechanism underlying isochromosome formation in skin and head and neck carcinomas
    Y Jin
    Department of Clinical Genetics, University Hospital, 221 85 Lund, Sweden
    Chromosoma 109:476-81. 2000
    ..Assessment of karyotypic evolution in these tumors suggests that centromeric cleavage is a mechanism giving rise to isochromosomes. A similar mechanism may also be involved in the formation of whole-arm translocations...
  33. pmc Hibernomas are characterized by homozygous deletions in the multiple endocrine neoplasia type I region. Metaphase fluorescence in situ hybridization reveals complex rearrangements not detected by conventional cytogenetics
    D Gisselsson
    Department of Clinical Genetics, University Hospital, Lund, Sweden University of Leuven, Leuven, Belgium
    Am J Pathol 155:61-6. 1999
    ..In addition to the MEN1 deletions, heterozygous loss of a second region, approximately 3 Mb distal to MEN1, was found in all five cases, adding to previous evidence for a second tumor suppressor locus in 11q13...
  34. ncbi request reprint Cytogenetic and fluorescence in situ hybridization characterization of chromosome 8 rearrangements in head and neck squamous cell carcinomas
    Y Jin
    Department of Clinical Genetics, University Hospital, S 221 85, Lund, Sweden
    Cancer Genet Cytogenet 130:111-7. 2001
    ..Loss of parts of or the entire 8p was seen in 10 tumors. The smallest overlapping deleted region was localized to the subtelomeric region of 8p...
  35. doi request reprint 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...
  36. ncbi request reprint Amplification of chromosome 1 sequences in lipomatous tumors and other sarcomas
    Malin Nilsson
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Int J Cancer 109:363-9. 2004
    ..The role of the frequent coamplification of COAS, or some other yet unknown gene in the 1q21-23 region, and MDM2 remains to be elucidated...
  37. ncbi request reprint Trisomy 7 accumulates with age in solid tumors and non-neoplastic synovia
    K Broberg
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 30:310-5. 2001
    ....
  38. ncbi request reprint Cytogenetic aberrations in Ewing sarcoma: are secondary changes associated with clinical outcome?
    C M Kullendorff
    Department of Pediatric Surgery, University Hospital, Lund, Sweden
    Med Pediatr Oncol 32:79-83. 1999
    ....
  39. pmc Frequent deletion of the CDKN2A locus in chordoma: analysis of chromosomal imbalances using array comparative genomic hybridisation
    K H Hallor
    Department of Clinical Genetics, Lund University Hospital, Lund SE 221 85, Sweden
    Br J Cancer 98:434-42. 2008
    ....
  40. ncbi request reprint Cytogenetic comparison of primary tumors and lymph node metastases in breast cancer patients
    N Pandis
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 22:122-9. 1998
    ..Among the aberrations occurring more frequently, and that consequently may predispose to disease spread, were losses of chromosomes 17 and 22 and homogeneously staining regions, a cytogenetic sign of gene amplification...
  41. ncbi request reprint Clonal karyotypic evolution in a pediatric neurofibrosarcoma
    F Mertens
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Cancer Genet Cytogenet 81:135-8. 1995
    ..The findings indicate that formation of i(1)(q10) and loss of chromosome 18 may be early genetic events in neurofibrosarcoma development...
  42. ncbi request reprint 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
    ....
  43. 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
    ....
  44. ncbi request reprint 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...
  45. pmc Centrosomal abnormalities, multipolar mitoses, and chromosomal instability in head and neck tumours with dysfunctional telomeres
    D Gisselsson
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Br J Cancer 87:202-7. 2002
    ..In turn, this may cause an accumulation of centrosomes and mitotic multipolarity. Telomerase expression does not confer total stability to the tumour genome but could be crucial for moderating the rate of chromosomal evolution...
  46. doi request reprint 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...
  47. ncbi request reprint A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequences
    D Gisselsson
    Department of Clinical Genetics, Lund University Hospital, Sweden
    Cancer Lett 133:129-34. 1998
    ....
  48. ncbi request reprint 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)...
  49. ncbi request reprint 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
    ....
  50. ncbi request reprint Different patterns of chromosomal imbalances in metastasising and non-metastasising primary breast carcinomas
    A Adeyinka
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Int J Cancer 84:370-5. 1999
    ..Our data show that there are differences among the genetic lesions present in node-negative and node-positive breast tumours. Int. J. Cancer (Pred. Oncol.) 84:370-375, 1999...
  51. ncbi request reprint Ring chromosomes and low-grade gene amplification in an atypical lipomatous tumor with minimal nuclear atypia
    Clelia Tiziana Storlazzi
    Department of Clinical Genetics, Lund University Hospital, 221 85 Lund, Sweden
    Int J Oncol 23:67-71. 2003
    ..Furthermore, the present data strongly imply that it is the composition of the rings rather than the ring chromosome formation as such that causes the genetic instability and nuclear atypia frequently seen in ALTs...
  52. ncbi request reprint Extraskeletal myxoid chondrosarcoma with neuroendocrine differentiation: a case report with fine-needle aspiration biopsy, histopathology, electron microscopy, and cytogenetics
    Henryk A Domanski
    Department of Pathology and Cytology, Lund University Hospital, Lund, Sweden
    Ultrastruct Pathol 27:363-8. 2003
    ....
  53. ncbi request reprint Chromosomal translocations involving 11q13 contribute to cyclin D1 overexpression in squamous cell carcinoma of the head and neck
    Jan Akervall
    Department of Otorhinolaryngology Head and Neck Surgery, University Hospital, SE 221 85 Lund, Sweden
    Int J Oncol 20:45-52. 2002
    ..We conclude that, besides amplifications, chromosomal translocations and other transcriptional or translational regulatory mechanisms are involved in CCND1 deregulation...
  54. ncbi request reprint 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...
  55. ncbi request reprint 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...
  56. ncbi request reprint FISH mapping of i(7q) in acute leukemias and myxoid liposarcoma reveals clustered breakpoints in 7p11.2: implications for formation and pathogenetic outcome of the idic(7)(p11.2)
    K Schaad
    Department of Clinical Genetics, Lund University Hospital, Sweden
    Cytogenet Genome Res 114:126-30. 2006
    ..The pathogenetically important outcome is thus likely to be an altered gene expression because of copy number changes. The clustering of breakpoints might be due to frequent intrachromosomal duplicons in the BP region...
  57. ncbi request reprint 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
  58. pmc Chromosome rearrangements in synovial chondromatous lesions
    F Mertens
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Br J Cancer 74:251-4. 1996
    ....
  59. ncbi request reprint Chromosomal aberrations in a consecutive series of childhood rhabdomyosarcoma
    C M Kullendorff
    Department of Pediatric Surgery, University Hospital, Lund, Sweden
    Med Pediatr Oncol 30:156-9. 1998
    ..During a 13-year period, 22 children were treated for rhabdomyosarcoma (RMS). In 18 of these patients chromosome analysis was attempted on material from tumor biopsies, fine needle aspiration biopsies and/or bone marrow samples...
  60. doi request reprint 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...
  61. ncbi request reprint Distinct cytologic features of spindle cell lipoma. A cytologic-histologic study with clinical, radiologic, electron microscopic, and cytogenetic correlations
    H A Domanski
    Department of Pathology and Cytology, Lund University Hospital, Lund, Sweden
    Cancer 93:381-9. 2001
    ..The cytologic features are poorly defined, and aspirates from SCL may cause diagnostic problems, because SCL shares some features with other fatty/spindle cell or myxoid lesions, benign as well as malignant...
  62. ncbi request reprint Musculoskeletal oncology--advances in cytogenetics and molecular genetics and their clinical implications
    P F Choong
    Department of Orthopedics, University Hospital, Lund, Sweden
    Acta Oncol 36:245-54. 1997
    ..By studying the molecular biology and cytogenetics of tumours it may be possible to improve diagnostic and prognostic accuracy thereby minimising over and under treatment...
  63. ncbi request reprint Analysis of the distribution and frequency of trisomy 7 in vivo in synovia from patients with osteoarthritis and pigmented villonodular synovitis
    A Dahlen
    Department of Clinical Genetics, University Hospital, SE 221 85, Lund, Sweden
    Cancer Genet Cytogenet 131:19-24. 2001
    ..By hematoxylin-eosin staining of the slides used for FISH analysis it could be shown that the clustered trisomic cells were proliferating synoviocytes within villous extensions of the synovial membrane...
  64. doi request reprint 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...
  65. doi request reprint 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...
  66. ncbi request reprint 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...
  67. ncbi request reprint Cyclin D1 amplification in chromosomal band 11q13 is associated with overrepresentation of 3q21-q29 in head and neck carcinomas
    Yuesheng Jin
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Int J Cancer 98:475-9. 2002
    ....
  68. ncbi request reprint Genomic profiling of bone and soft tissue tumors with supernumerary ring chromosomes using tiling resolution bacterial artificial chromosome microarrays
    M Heidenblad
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Oncogene 25:7106-16. 2006
    ....
  69. pmc Complex karyotypes in flow cytometrically DNA-diploid squamous cell carcinomas of the head and neck
    J Akervall
    Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital, Lund, Sweden
    Br J Cancer 77:1082-8. 1998
    ....
  70. ncbi request reprint 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...
  71. ncbi request reprint 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...
  72. doi request reprint Fusion of the FUS and CREB3L2 genes in a supernumerary ring chromosome in low-grade fibromyxoid sarcoma
    Hammurabi Bartuma
    Department of Clinical Genetics, University and Regional Laboratories, Skane University Hospital, Lund University, SE 221 85 Lund, Sweden
    Cancer Genet Cytogenet 199:143-6. 2010
    ..Moreover, an assessment of previously reported cases showed that tumors with ring chromosomes relapsed more often than tumors with a balanced t(7;16), suggesting that ring formation in LGFMS is correlated with tumor progression...
  73. ncbi request reprint Comparative cytogenetic and DNA flow cytometric analysis of 242 primary breast carcinomas
    Adewale Adeyinka
    Department of Clinical Genetics, University Hospital, SE 221 85, Lund, Sweden
    Cancer Genet Cytogenet 147:62-7. 2003
    ....
  74. ncbi request reprint 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...
  75. doi request reprint Deep-seated ordinary and atypical lipomas: histopathology, cytogenetics, clinical features, and outcome in 215 tumours of the extremity and trunk wall
    V Billing
    Lund University Hospital, Lund, Sweden
    J Bone Joint Surg Br 90:929-33. 2008
    ....
  76. ncbi request reprint Cytogenetics of benign breast lesions
    C Lundin
    Department of Clinical Genetics, Uppsala University Hospital, Sweden
    Breast Cancer Res Treat 51:1-15. 1998
    ..The potential tumor suppressor gene(s) in this region remains, however, to be identified...
  77. ncbi request reprint Genetic intratumour heterogeneity in high-grade brain tumours is associated with telomere-dependent mitotic instability
    C Glanz
    The Rausing Laboratory, Division of Neurosurgery, Lund University Hospital, Lund, Sweden
    Neuropathol Appl Neurobiol 33:440-54. 2007
    ..Telomere-dependent abnormal segregation of chromosomes at mitosis is thus a common phenomenon in high-grade brain tumours and may be one important factor behind cytogenetic intratumour diversity in GBM...
  78. ncbi request reprint Polyclonal expansion of cells with trisomy 7 in synovia from patients with osteoarthritis
    K Broberg
    Clinical Genetics and Orthopedics, University Hospital, Lund Sweden
    Cytogenet Cell Genet 83:30-4. 1998
    ..The finding of a polyclonal X-inactivation pattern in two of the cases provides strong evidence that gain of an extra copy of chromosome 7 occurs independently in multiple cells...
  79. ncbi request reprint Cytogenetic aberrations and their prognostic impact in chondrosarcoma
    Nils Mandahl
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 33:188-200. 2002
    ..Only -13q was an independent prognostic factor for metastasis, regardless of tumor grade or size...
  80. doi request reprint 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
    ....
  81. 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...
  82. 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
    ....
  83. ncbi request reprint Karyotypic heterogeneity and clonal evolution in squamous cell carcinomas of the head and neck
    Charlotte Jin
    Department of Clinical Genetics, University Hospital, SE 221 85, Lund, Sweden
    Cancer Genet Cytogenet 132:85-96. 2002
    ..One of the examined tumors contained two highly complex clones that were cytogenetically unrelated, indicating that this tumor had a multicellular origin...
  84. 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...
  85. ncbi request reprint Mitotic instability associated with late genomic changes in bone and soft tissue tumours
    David Gisselsson
    Department of Clinical Genetics, University Hospital, Lund SE 221 85, Sweden
    Cancer Lett 206:69-76. 2004
    ....
  86. ncbi request reprint Prevalence estimates of recurrent balanced cytogenetic aberrations and gene fusions in unselected patients with neoplastic disorders
    Felix Mitelman
    Department of Clinical Genetics, University Hospital, Lund, Sweden
    Genes Chromosomes Cancer 43:350-66. 2005
    ....
  87. ncbi request reprint Statistical analyses of karyotypic complexity in head and neck squamous cell carcinoma
    Mattias Hoglund
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Cancer Genet Cytogenet 150:1-8. 2004
    ..Two major cytogenetic pathways, one dominated by gains and another by losses, were identified by means of principal component analysis. These were initiated by +7 and by any of the aberrations 1p-, 3p-, or 7q-, respectively...
  88. ncbi request reprint Fusion genes and rearranged genes as a linear function of chromosome aberrations in cancer
    Felix Mitelman
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Nat Genet 36:331-4. 2004
    ..Hence, there may not be any fundamental tissue-specific differences in the genetic mechanisms by which neoplasia is initiated...
  89. 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
    ....
  90. ncbi request reprint 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...
  91. ncbi request reprint 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...
  92. ncbi request reprint 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...
  93. ncbi request reprint Clinical and biological importance of cytogenetic abnormalities in childhood and adult acute lymphoblastic leukemia
    Bertil Johansson
    Deaprtment of Clinical Genetics, Lund University Hospital, Sweden
    Ann Med 36:492-503. 2004
    ..Here, we summarize and review the cytogenetic features of childhood and adult ALL, with emphasis on their molecular genetic consequences and their clinical impact...
  94. ncbi request reprint 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...
  95. ncbi request reprint 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...
  96. ncbi request reprint Atypical lipomatous tumor with rare structural rearrangements involving chromosomes 8 and 12
    Malin Nilsson
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Oncol Rep 13:649-52. 2005
    ..Whether ALTs with these types of aberrations have a lower risk of tumor progression than ALTs with the notoriously mitotically unstable ring and giant marker chromosomes remains to be investigated...
  97. pmc Structural and numerical chromosome changes in colon cancer develop through telomere-mediated anaphase bridges, not through mitotic multipolarity
    Ylva Stewénius
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Proc Natl Acad Sci U S A 102:5541-6. 2005
    ..Bridging of telomere-deficient chromosomes could thus be a major mutational mechanism in colorectal cancer, whereas mitotic multipolarity appears to be a secondary phenomenon that rarely, if ever, contributes to clonal evolution...
  98. 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...
  99. ncbi request reprint 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...
  100. doi request reprint Cytogenetic and molecular cytogenetic findings in lipoblastoma
    Hammurabi Bartuma
    Department of Clinical Genetics, Lund University Hospital, SE 221 85 Lund, Sweden
    Cancer Genet Cytogenet 183:60-3. 2008
    ..As 8q11 approximately q13 rearrangements have been reported in only 3% of conventional lipomas and never in myxoid liposarcoma, cytogenetic analysis or FISH for the PLAG1 gene can provide useful differential diagnostic information...
  101. doi request reprint Genomic characteristics of soft tissue sarcomas
    Fredrik Mertens
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    Virchows Arch 456:129-39. 2010
    ....