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ABSTRACT: Karyotype analysis of a case of acute megakaryoblastic leukaemia revealed an X;6 translocation as the sole abnormality. Using fluorescence in situ hybridisation on leukaemic metaphases we demonstrated that the breakpoint on the X-chromosome occurred at p11.21, within a region spanned by a YAC probe which has also been found to be disrupted in synovial sarcomas and some papillary renal cell carcinomas.
Leukemia 05/1995; 9(4):723-5. · 9.56 Impact Factor
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ABSTRACT: Translocation t(12;16)(q13;p11) is regarded as a diagnostic marker for myxoid liposarcoma. Cytogenetic data on round cell liposarcomas and combined myxoid and round cell tumors is scarce, and the genetic basis of progression of myxoid tumors to high grade, round cell lesions is unknown. We have accumulated six round cell, four combined myxoid and round cell, and three myxoid liposarcomas for analysis. t(12;16)(q13;p11) was present in three round cell lesions and was detectable in all of the tumors by DNA analysis. In each tumor type, the CHOP gene in 12q13 was rearranged and fused to the TLS gene in 16p11. A variant TLS-CHOP RNA transcript was detected by polymerase chain reaction but did not correlate with clinicopathological data. No distinguishing cytogenetic or molecular markers for round cell or mixed lesions were found. The histogenic and genetic relatedness of myxoid and round cell liposarcomas is apparent from these data.
Cancer Research 02/1995; 55(1):24-7. · 7.86 Impact Factor
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ABSTRACT: Molecular analysis of a new series of synovial sarcomas confirms that t(X;18)(p11.2;q11.2) breakpoints occur at two distinct regions on Xp designated SS1 and SS2. Breakpoint position correlates with tumor phenotype. Monophasic tumors with no evidence of glandular components have breakpoints within the SS2 region in Xp11.21, and biphasic tumors with a focal poorly differentiated or extensive glandular structure have breakpoints within the SS1 region in Xp11.23.
Cytogenetics and cell genetics 02/1995; 70(1-2):58-63.
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ABSTRACT: PCTAIRE-1 is a cdc2-related protein kinase of unknown function. The gene (PCTK1) has been mapped to chromosome Xp. In this study we refine the locus position by chromosome analysis with cosmid and YAC probes. PCTK1 maps distal to the t(X;18) synovial sarcoma breakpoint in Xp11.23. A 420-kb YAC clone positive for PCTK1 also contains the gene coding for ubiquitin-activating enzyme UBE1, previously mapped in Xp11.3, indicating close physical linkage of these genes. PCTK1 is a new candidate for heritable disorders mapped to Xp11.3--p11.23 region.
Cytogenetics and cell genetics 02/1995; 71(2):155-7.
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ABSTRACT: A high proportion of synovial sarcomas contain a chromosome translocation t(X;18)(p11.2;q11.2). We have previously used somatic cell hybrids derived from an established cell line, SS255, to map the X chromosome breakpoint to the interval flanked by the markers DXS14 and DXS146. In this study we have examined these hybrids with thirteen additional markers located at Xp11.3-Xcen, by Southern hybridization. Based on these results we have delimited the breakpoint as follows Xpter-DXS228-(UBE1-OATL1-TIMP-DXS226 )-(DXS255-TFE3-ELK1-DXS146)-OATL2- X;18-(DXS14-DXS422-DXS423-DXS674-DXS679)-+ ++Xcen. Confirmation of the breakpoint location has been obtained by analysis of two synovial sarcoma cell lines, SS255 and HA2243, using fluorescence in situ hybridization. A 350kb YAC probe spanning the DXS423 locus hybridized only to the derivative X chromosome, showing that it maps proximal to the breakpoint. Two YAC probes of 300kb and 450kb, containing the OATL2 locus, hybridized to both derivative chromosomes, indicating that these YACs span the translocation breakpoint. Similar results were obtained with both cell lines. The identification of YACs that span the t(X;18) breakpoint now facilitates a strategy for cloning candidate genes from this precisely defined region.
Human Molecular Genetics 12/1992; 1(8):633-7. · 7.64 Impact Factor
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ABSTRACT: Sixty-nine primary soft tissue tumours were examined for alterations of the RB1 gene which has previously been implicated in the genesis of retinoblastoma. In three tumours loss of both alleles of this gene (homozygous deletion) was detected. Two of these, both leiomyosarcomas, contained a chromosomal breakpoint within the RB1 gene, while in the third tumour, a radiation induced sarcoma, complete deletion was observed. Using a probe that detects a polymorphic locus within the RB1 gene we found loss of only one allele (heterozygous deletion) in 33% of soft tissue sarcomas examined, including two leiomyosarcomas, a malignant peripheral nerve sheath tumour, a rhabdomyosarcoma and a chondrosarcoma. When taken together our results suggest that alterations of the RB1 locus may play an important part in the pathogenesis of soft tissue tumours and particularly in leiomyosarcomas which accounted for four of the eight RB1 alterations observed in this study.
British Journal of Cancer 09/1989; 60(2):202-5. · 5.04 Impact Factor
