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Genomes and Genes | F MertensSummaryAffiliation: University Hospital Country: Sweden Publications
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Prognostically important chromosomal aberrations in soft tissue sarcomas: a report of the Chromosomes and Morphology (CHAMP) Study GroupFredrik 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...
Clinicopathologic and molecular genetic characterization of low-grade fibromyxoid sarcoma, and cloning of a novel FUS/CREB3L1 fusion geneFredrik 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...
Cytogenetic characterization of peripheral nerve sheath tumours: a report of the CHAMP study groupF 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...
Retained heterodisomy for chromosome 12 in atypical lipomatous tumors: implications for ring chromosome formationF 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...
Chromosomal breakage-fusion-bridge events cause genetic intratumor heterogeneityD Gisselsson
Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
Proc Natl Acad Sci U S A 97:5357-62. 2000....
The tumor-associated gene HMGIC is expressed in normal and osteoarthritis-affected synoviaK 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...
Cytogenetic analysis of 46 pleomorphic soft tissue sarcomas and correlation with morphologic and clinical features: a report of the CHAMP Study Group. Chromosomes and MorPhologyF 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...
FISH characterization of head and neck carcinomas reveals that amplification of band 11q13 is associated with deletion of distal 11qY 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...
Rearrangement of the neoplasia-associated gene HMGIC in synovia from patients with osteoarthritisK Broberg
Department of Clinical Genetics, University Hospital, Lund, Sweden
Genes Chromosomes Cancer 24:278-82. 1999....
A novel FUS/CHOP chimera in myxoid liposarcomaI 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...
Clonal chromosome aberrations accumulate with age in upper aerodigestive tract mucosaC 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...
Telomeric associations correlate with telomere length reduction and clonal chromosome aberrations in giant cell tumor of boneS 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...
Characteristic karyotypic features in lacrimal and salivary gland carcinomasY Jin
Department of Clinical Genetics, University Hospital, Lund, Sweden
Br J Cancer 70:42-7. 1994....
No EWS/FLI1 fusion transcripts in giant-cell tumors of boneI 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...
Variable stability of chromosomes containing amplified alpha-satellite sequences in human mesenchymal tumoursD 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...
Truncation and fusion of HMGA2 in lipomas with rearrangements of 5q32-->q33 and 12q14-->q15M Nilsson
Department of Clinical Genetics, University Hospital, Lund, Sweden
Cytogenet Genome Res 112:60-6. 2006....
Characterization of chromosome aberrations in salivary gland tumors by FISH, including multicolor COBRA-FISHC Jin
Department of Clinical Genetics, University Hospital, Lund, Sweden
Genes Chromosomes Cancer 30:161-7. 2001....
Fusion of the EWS and CHOP genes in myxoid liposarcomaI Panagopoulos
Department of Clinical Genetics, Lund University Hospital, Sweden
Oncogene 12:489-94. 1996....
Cytogenetic analysis of inverted nasal papillomas and demonstration of genetic convergence during in vitro passagingC Jin
Department of Clinical Genetics, University Hospital, Lund, Sweden
Int J Cancer 70:668-73. 1997....
Cytogenetic and molecular genetic demonstration of polyclonality in an acinic cell carcinomaC 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...
Multivariate analyses of genomic imbalances in solid tumors reveal distinct and converging pathways of karyotypic evolutionM 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...
Chromosomal aberrations in breast cancer: a comparison between cytogenetics and comparative genomic hybridizationK 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...
The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cellsD 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...
Abnormal nuclear shape in solid tumors reflects mitotic instabilityD 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...
The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcomaIoannis 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...
Karyotypic abnormalities in fibroadenomas of the breastC 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...
Molecular cytogenetic characterization of the 11q13 amplicon in head and neck squamous cell carcinomaC Jin
Department of Clinical Genetics, University Hospital, Lund, Sweden
Cytogenet Genome Res 115:99-106. 2006....
Telomere dysfunction triggers extensive DNA fragmentation and evolution of complex chromosome abnormalities in human malignant tumorsD 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...
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...
Nonrandom pattern of cytogenetic abnormalities in squamous cell carcinoma of the larynxC 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...
Fusion of the HMGA2 and NFIB genes in lipomaM 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...
Centromere cleavage is a mechanism underlying isochromosome formation in skin and head and neck carcinomasY 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...
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 cytogeneticsD 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...
Cytogenetic and fluorescence in situ hybridization characterization of chromosome 8 rearrangements in head and neck squamous cell carcinomasY 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...
High-resolution molecular cytogenetic analysis of Wilms tumors highlights diagnostic difficulties among small round cell kidney tumorsYlva 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...
Amplification of chromosome 1 sequences in lipomatous tumors and other sarcomasMalin 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...
Trisomy 7 accumulates with age in solid tumors and non-neoplastic synoviaK Broberg
Department of Clinical Genetics, University Hospital, Lund, Sweden
Genes Chromosomes Cancer 30:310-5. 2001....
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....
Frequent deletion of the CDKN2A locus in chordoma: analysis of chromosomal imbalances using array comparative genomic hybridisationK H Hallor
Department of Clinical Genetics, Lund University Hospital, Lund SE 221 85, Sweden
Br J Cancer 98:434-42. 2008....
Cytogenetic comparison of primary tumors and lymph node metastases in breast cancer patientsN 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...
Clonal karyotypic evolution in a pediatric neurofibrosarcomaF 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...
Fusion of the EWSR1 and ATF1 genes without expression of the MITF-M transcript in angiomatoid fibrous histiocytomaKarolin Hansén Hallor
Department of Clinical Genetics, University Hospital, Lund, Sweden
Genes Chromosomes Cancer 44:97-102. 2005....
Expression levels of HMGA2 in adipocytic tumors correlate with morphologic and cytogenetic subgroupsHammurabi Bartuma
Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
Mol Cancer 8:36. 2009....
Molecular cytogenetic mapping of recurrent chromosomal breakpoints in tenosynovial giant cell tumorsM 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...
Centrosomal abnormalities, multipolar mitoses, and chromosomal instability in head and neck tumours with dysfunctional telomeresD 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...
POU5F1, encoding a key regulator of stem cell pluripotency, is fused to EWSR1 in hidradenoma of the skin and mucoepidermoid carcinoma of the salivary glandsE 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...
A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequencesD Gisselsson
Department of Clinical Genetics, Lund University Hospital, Sweden
Cancer Lett 133:129-34. 1998....
Clinical impact of molecular and cytogenetic findings in synovial sarcomaI 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)...
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....
Different patterns of chromosomal imbalances in metastasising and non-metastasising primary breast carcinomasA 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...
Ring chromosomes and low-grade gene amplification in an atypical lipomatous tumor with minimal nuclear atypiaClelia 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...
Extraskeletal myxoid chondrosarcoma with neuroendocrine differentiation: a case report with fine-needle aspiration biopsy, histopathology, electron microscopy, and cytogeneticsHenryk A Domanski
Department of Pathology and Cytology, Lund University Hospital, Lund, Sweden
Ultrastruct Pathol 27:363-8. 2003....
Chromosomal translocations involving 11q13 contribute to cyclin D1 overexpression in squamous cell carcinoma of the head and neckJan 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...
Assessment of the clinical and molecular impact of different cytogenetic subgroups in a series of 272 lipomas with abnormal karyotypeHammurabi 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...
Fusion genes in angiomatoid fibrous histiocytomaKarolin 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...
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...
Genetic characterization of bone and soft tissue tumorsN Mandahl
Dept of Clinical Genetics, Lund University Hospital, Lund, Sweden
Acta Orthop Scand Suppl 75:21-8. 2004
Chromosome rearrangements in synovial chondromatous lesionsF Mertens
Department of Clinical Genetics, University Hospital, Lund, Sweden
Br J Cancer 74:251-4. 1996....
Chromosomal aberrations in a consecutive series of childhood rhabdomyosarcomaC 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...
Low-grade fibromyxoid sarcoma is difficult to diagnose by fine needle aspiration cytology: a cytomorphological study of eight casesH 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...
Distinct cytologic features of spindle cell lipoma. A cytologic-histologic study with clinical, radiologic, electron microscopic, and cytogenetic correlationsH 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...
Musculoskeletal oncology--advances in cytogenetics and molecular genetics and their clinical implicationsP 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...
Analysis of the distribution and frequency of trisomy 7 in vivo in synovia from patients with osteoarthritis and pigmented villonodular synovitisA 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...
An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimeraIoannis 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...
Two genetic pathways, t(1;10) and amplification of 3p11-12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour, and morphologically similar lesionsKarolin 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...
Fusion of RDC1 with HMGA2 in lipomas as the result of chromosome aberrations involving 2q35-37 and 12q13-15Karin 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...
Cyclin D1 amplification in chromosomal band 11q13 is associated with overrepresentation of 3q21-q29 in head and neck carcinomasYuesheng Jin
Department of Clinical Genetics, University Hospital, Lund, Sweden
Int J Cancer 98:475-9. 2002....
Genomic profiling of bone and soft tissue tumors with supernumerary ring chromosomes using tiling resolution bacterial artificial chromosome microarraysM Heidenblad
Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
Oncogene 25:7106-16. 2006....
Complex karyotypes in flow cytometrically DNA-diploid squamous cell carcinomas of the head and neckJ Akervall
Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital, Lund, Sweden
Br J Cancer 77:1082-8. 1998....
Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcomaClelia 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...
Comparison of the proximal promoter regions of the PAX3 and PAX7 genesEmely 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...
Fusion of the FUS and CREB3L2 genes in a supernumerary ring chromosome in low-grade fibromyxoid sarcomaHammurabi 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...
Comparative cytogenetic and DNA flow cytometric analysis of 242 primary breast carcinomasAdewale Adeyinka
Department of Clinical Genetics, University Hospital, SE-221 85, Lund, Sweden
Cancer Genet Cytogenet 147:62-7. 2003....
Molecular cytogenetic characterization of an ins(4;X) occurring as the sole abnormality in an aggressive, poorly differentiated soft tissue sarcomaCecilia 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...
Deep-seated ordinary and atypical lipomas: histopathology, cytogenetics, clinical features, and outcome in 215 tumours of the extremity and trunk wallV Billing
Lund University Hospital, Lund, Sweden
J Bone Joint Surg Br 90:929-33. 2008....
Cytogenetics of benign breast lesionsC 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...
Genetic intratumour heterogeneity in high-grade brain tumours is associated with telomere-dependent mitotic instabilityC 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...
Polyclonal expansion of cells with trisomy 7 in synovia from patients with osteoarthritisK 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...
Cytogenetic aberrations and their prognostic impact in chondrosarcomaNils 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...
Heterogeneous genetic profiles in soft tissue myoepitheliomasKarolin H Hallor
Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
Mod Pathol 21:1311-9. 2008....
Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumorsAnna 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...
Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcomaIoannis Panagopoulos
Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
Genes Chromosomes Cancer 35:340-52. 2002....
Karyotypic heterogeneity and clonal evolution in squamous cell carcinomas of the head and neckCharlotte 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...
Differentially amplified chromosome 12 sequences in low- and high-grade osteosarcomaDavid 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...
Mitotic instability associated with late genomic changes in bone and soft tissue tumoursDavid Gisselsson
Department of Clinical Genetics, University Hospital, Lund SE 221 85, Sweden
Cancer Lett 206:69-76. 2004....
Prevalence estimates of recurrent balanced cytogenetic aberrations and gene fusions in unselected patients with neoplastic disordersFelix Mitelman
Department of Clinical Genetics, University Hospital, Lund, Sweden
Genes Chromosomes Cancer 43:350-66. 2005....
Statistical analyses of karyotypic complexity in head and neck squamous cell carcinomaMattias 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...
Fusion genes and rearranged genes as a linear function of chromosome aberrations in cancerFelix 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...
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....
Expression of DOL54 is not restricted to myxoid liposarcomas with the FUS-DDIT3 chimera but is found in various sarcomasIoannis 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...
Bidirectionality and transcriptional activity of the EWSR1 promoter regionEmely 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...
Fusion, disruption, and expression of HMGA2 in bone and soft tissue chondromasAnna 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...
Clinical and biological importance of cytogenetic abnormalities in childhood and adult acute lymphoblastic leukemiaBertil 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...
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...
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...
Atypical lipomatous tumor with rare structural rearrangements involving chromosomes 8 and 12Malin 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...
Structural and numerical chromosome changes in colon cancer develop through telomere-mediated anaphase bridges, not through mitotic multipolarityYlva 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...
Molecular genetic characterization of the EWS/ATF1 fusion gene in clear cell sarcoma of tendons and aponeurosesIoannis 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...
Characterization of the CHOP breakpoints and fusion transcripts in myxoid liposarcomas with the 12;16 translocationI 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...
Cytogenetic and molecular cytogenetic findings in lipoblastomaHammurabi 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...
Genomic characteristics of soft tissue sarcomasFredrik Mertens
Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
Virchows Arch 456:129-39. 2010....
