The cytogenetic and molecular characterization of benign and malignant soft tissue tumors

Sreekantaiah, Chandrika

doi:10.1159/000015056

Cited by 25 publications

(14 citation statements)

References 185 publications

(216 reference statements)

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“…At present, the role of cytogenetic and molecular analyses have been established in basic and clinical investigation of hematological malignancies, and specific genetic alterations are used in clinical practice for diagnostic, prognostic and therapeutic purposes (O'Dwyer and Druker, 2000). In solid tumors, a similar situation is presently evolving for sarcomas, where several specific chromosomal alterations, mostly reciprocal translocations, have been associated with distinct histopathological entities (Sreekantaiah, 1998). In some situations, different oncogenic fusion genes are associated with a single type of cancer, while in other situations one gene can fuse to different partner genes, resulting in distinct neoplastic phenotypes (Å man, 1999;Ladanyi and Bridge, 2000).…”

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confidence: 99%

Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas

et al. 2002

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The chromosomal translocation t(X;18)(p11.2;q11.2) is tightly linked to the tumorigenesis of synovial sarcoma. Through this translation the SYT gene on chromosome 18 is fused with a testis/cancer antigen gene on the X chromosome, generating either a SYT-SSX1, SYT-SSX2, or less often a SYT-SSX4 fusion gene. It has been anticipated that the individual synovial sarcoma carries only one of these variants, however, in this study we demonstrated that SYT-SSX1 and SYT-SSX2 coexist in a significant proportion of the cases. From 121 SYT-SSX positive primary tumors, co-expression of SYT-SSX1 and SYT-SSX2 was seen in 12 cases (10%), which were characterized in further detail both at the RNA, DNA and chromosomal level. In all 12 cases the SYT-SSX1 and SYT-SSX2 fusions resulted in identical SYT-SSX fusion transcripts. However, at the genomic level the translocations were different, and most likely occurred between variable intronic sites in the target genes. By interphase FISH analyses of 10 cases SYT-SSX2 translocations were found to be the most abundant in all but one of the cases, in which SYT-SSX1 was predominating. The findings reveal a new heterogenous feature of synovial sarcoma, accounting for approximately 10% of all cases, which may shed light on the molecular genetic mechanisms behind translocations in general, and on the etiology of synovial sarcoma in particular.

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Section: Introductionmentioning

confidence: 99%

Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas

et al. 2002

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“…Cytogenetic characteristics of well-differentiated liposarcomas are rings as well as giant marker chromosomes that contain amplified genetic material derived from chromosome region 12q13-q15 and, alternatively, additional material from chromosomes 1, 4, and 16. [3][4][5][6] Dedifferentiated liposarcoma is a high-grade sarcoma that arises in patients with pre-existing well-differentiated liposarcoma 7 and shows the same cytogenetic aberrations as well-differentiated liposarcoma. Myxoid/ round cell liposarcoma account for about 30% of all liposarcomas and share the typical reciprocal translocations t(12;16)(q13;p11) and t(12;22)(q13;q12), and trisomy 8, isochromosome 7q, and 6q deletions as secondary aberrations.…”

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“…Myxoid/ round cell liposarcoma account for about 30% of all liposarcomas and share the typical reciprocal translocations t(12;16)(q13;p11) and t(12;22)(q13;q12), and trisomy 8, isochromosome 7q, and 6q deletions as secondary aberrations. 4 Pleomorphic liposarcoma is defined as a high-grade liposarcoma and is associated with a very poor prognosis. 8 Complex chromosomal changes without specific rearrangements have been detected in karyotypic analyses of pleomorphic liposarcomas.…”

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“…8 Complex chromosomal changes without specific rearrangements have been detected in karyotypic analyses of pleomorphic liposarcomas. 4 Investigations of liposarcomas by comparative genomic hybridization (CGH) have shown a broad scattered pattern of genomic imbalances. [9][10][11] In this study, we analyzed altogether 36 cases of four liposarcoma subtypes by CGH to identify distinct DNA sequence copy number changes in the different subtypes and to evaluate their prognostic relevance.…”

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Gains of 13q are correlated with a poor prognosis in liposarcoma

et al. 2005

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Liposarcomas are a phenotypical heterogenous group of tumors divided into four main subtypes: welldifferentiated, dedifferentiated, myxoid/round cell, and pleomorphic. The aim of this study was to compare DNA sequence copy number changes of these subtypes as investigated by comparative genomic hybridization in 36 patients. Comparative genomic hybridization revealed genomic imbalances in tumors of 27 patients (mean 5.6 imbalances per tumor). The most frequent gains were within single regions of 1q, 12q, and 13q. We found a significant correlation of poor overall survival and gain of 13q21 (P ¼ 0.0221), 13q22 (P ¼ 0.0341), 13q31 (P ¼ 0.0410), and 13q32 (P ¼ 0.0074). The univariate Cox regression analysis revealed an increased risk of tumorrelated death for patients whose liposarcomas possess with gains of 13q21 and 13q32 simultaneously (P ¼ 0.010; RR ¼ 7.1; 95% CI 1.6-31.7). Furthermore, 12 high-level amplifications were found in tumors of seven patients. In four cases 12q14-q15 and in two cases 13q32-q33 were amplified. We identified in different liposarcoma subtypes characteristic genomic changes: Gains and high-level amplifications of 12q occurred in all 11 investigated well-differentiated liposarcomas, and these changes were often present simultaneously with gains of 1q (mean 5.5 changes). In the two dedifferentiated liposarcomas, gains of 1q in both liposarcomas, and a high-level amplification of 13q were striking. Only eight of the 17 patients with myxoid/round cell liposarcomas showed changes in DNA copy number (mean 3.4 imbalances). In four of these eight cases gains of 13q occurred. The six pleomorphic liposarcomas possessed the most frequent genomic imbalances (mean number 16.3) of all liposarcoma subtypes investigated. These imbalances were in almost all chromosomal regions detected predominantly as over-representations of chromosomes 1, 5p, 13q, and 22q. Summarizing, all subtypes but well-differentiated liposarcomas showed gains of 13q, which were associated with a poor prognosis. Modern Pathology (2005) 18, 638-644, advance online publication, 12 November 2004; doi:10.1038/modpathol.3800326Keywords: CGH; gain of 13q; liposarcoma subtypes; poor prognosis Liposarcomas are the most common soft-tissue sarcomas in adults and account for approximately 20% of all mesenchymal malignancies. The WHO classification divides liposarcomas into four main histological subtypes that are correlated with degree of malignancy: well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcomas. 1 Well-differentiated liposarcomas are tumors of low degree of malignancy. When located in the subcutis, they are usually cured by local surgical resection and rarely recur. 2 Comprising 40-45% of all liposarcomas, the well-differentiated liposarcomas are thus the largest subgroup of adipocytic malignancies. Cytogenetic characteristics of well-differentiated liposarcomas are rings as well as giant marker chromosomes that contain amplified genetic material derived from chromosome region 12q13-q15 and, alternative...

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Dysregulation and overexpression of HMGA2 in myelofibrosis with myeloid metaplasia

Andrieux

Demory

Dupriez

et al. 2003

Genes Chromosomes & Cancer

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Among cytogenetic studies of patients affected with myelofibrosis with myeloid metaplasia (MMM), a rare chronic myeloproliferative disorder, we found several reports of structural abnormalities of the long arm of chromosome 12. Two MMM patients had a balanced translocation involving 12q: t(4;12)(q32;q15) and t(5;12)(p14;q15), respectively. FISH (fluorescence in situ hybridization) analysis showed that BAC (bacterial artificial chromosome) RP11-366L20 overlaps the breakpoint in both cases. A gene, HMGA2, most of which is included in that BAC, thus was identified as a potential candidate. Using reserves transcriptase-polymerase chain reaction (RT-PCR), we looked for expression of HMGA2 in blood mononuclear cells from these 2 patients and demonstrated a transcript in both. Moreover, we found the gene expressed in the hematopoietic cells of 10 of 10 additional patients bearing no 12q anomalies. HMGA2, not expressed in normal subjects, is implicated in benign solid tumors such as lipomas, leiomyomas, and other rare tumors of mesenchymal origin. We postulate that its dysregulation and overexpression in myeloid progenitors contribute also to the pathogenesis of MMM.

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The cytogenetic and molecular characterization of benign and malignant soft tissue tumors

Cited by 25 publications

References 185 publications

Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas

Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas

Gains of 13q are correlated with a poor prognosis in liposarcoma

Dysregulation and overexpression of HMGA2 in myelofibrosis with myeloid metaplasia

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