A novel fusion gene, SS18L1/SSX1, in synovial sarcoma

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A novel fusion gene, SS18L1/SSX1, in synovial sarcoma. / Storlazzi, Tiziana; Mertens, Fredrik; Mandahl, Nils; Gisselsson, David; Isaksson, Margareth; Gustafson, Pelle; Domanski, Henryk A; Panagopoulos, Ioannis.

In: Genes, Chromosomes and Cancer, Vol. 37, No. 2, 06.2003, p. 195-200.

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Storlazzi, Tiziana ; Mertens, Fredrik ; Mandahl, Nils ; Gisselsson, David ; Isaksson, Margareth ; Gustafson, Pelle ; Domanski, Henryk A ; Panagopoulos, Ioannis. / A novel fusion gene, SS18L1/SSX1, in synovial sarcoma. In: Genes, Chromosomes and Cancer. 2003 ; Vol. 37, No. 2. pp. 195-200.

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TY - JOUR

T1 - A novel fusion gene, SS18L1/SSX1, in synovial sarcoma

AU - Storlazzi, Tiziana

AU - Mertens, Fredrik

AU - Mandahl, Nils

AU - Gisselsson, David

AU - Isaksson, Margareth

AU - Gustafson, Pelle

AU - Domanski, Henryk A

AU - Panagopoulos, Ioannis

N1 - The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Department of Orthopaedics (Lund) (013028000), Division of Clinical Genetics (013022003), Pathology, (Lund) (013030000)

PY - 2003/6

Y1 - 2003/6

N2 - Synovial sarcoma is an aggressive soft tissue tumor that is characterized cytogenetically by the t(X;18)(p11;q11) translocation, resulting in fusion between the SS18 gene on chromosome 18 and one of the SSX genes on the X chromosome. The three fusion genes that have been detected thus far, SS18/SSX1, SS18/SSX2, and SS18/SSX4, account for more than 95% of the synovial sarcomas. Because SS18/SSX fusions do not seem to occur in other tumor types, and because synovial sarcomas may sometimes be difficult to distinguish from other spindle cell tumors, molecular genetic analysis has become established as an important diagnostic tool. Upon cytogenetic analysis of a soft-tissue tumor that showed classic synovial sarcoma morphology, we detected two supernumerary marker chromosomes but no rearrangement of chromosomes X or 18. By fluorescence in situ hybridization, the marker chromosomes were shown to contain material from chromosomes X and 20, including the SSX gene cluster on the X chromosome and the SS18L1 gene, which shows strong homology with the SS18 gene, on chromosome 20. Further RT-PCR analysis and sequencing of the amplified products revealed a novel SS18L1/SSX1 fusion transcript in which nucleotide 1216 (exon 10) of SS18L1 was fused in-frame with nucleotide 422 (exon 6) of SSX1. Thus, the existence of genetic heterogeneity has to be taken into account when RT-PCR is used for the diagnosis of synovial sarcoma.

AB - Synovial sarcoma is an aggressive soft tissue tumor that is characterized cytogenetically by the t(X;18)(p11;q11) translocation, resulting in fusion between the SS18 gene on chromosome 18 and one of the SSX genes on the X chromosome. The three fusion genes that have been detected thus far, SS18/SSX1, SS18/SSX2, and SS18/SSX4, account for more than 95% of the synovial sarcomas. Because SS18/SSX fusions do not seem to occur in other tumor types, and because synovial sarcomas may sometimes be difficult to distinguish from other spindle cell tumors, molecular genetic analysis has become established as an important diagnostic tool. Upon cytogenetic analysis of a soft-tissue tumor that showed classic synovial sarcoma morphology, we detected two supernumerary marker chromosomes but no rearrangement of chromosomes X or 18. By fluorescence in situ hybridization, the marker chromosomes were shown to contain material from chromosomes X and 20, including the SSX gene cluster on the X chromosome and the SS18L1 gene, which shows strong homology with the SS18 gene, on chromosome 20. Further RT-PCR analysis and sequencing of the amplified products revealed a novel SS18L1/SSX1 fusion transcript in which nucleotide 1216 (exon 10) of SS18L1 was fused in-frame with nucleotide 422 (exon 6) of SSX1. Thus, the existence of genetic heterogeneity has to be taken into account when RT-PCR is used for the diagnosis of synovial sarcoma.

KW - Adult

KW - Amino Acid Sequence

KW - Base Sequence

KW - Chromosomes, Human, Pair 20

KW - Chromosomes, Human, X

KW - Humans

KW - Leg

KW - Male

KW - Molecular Sequence Data

KW - Neoplasm Proteins

KW - Oncogene Proteins, Fusion

KW - Proteins

KW - Proto-Oncogene Proteins

KW - Repressor Proteins

KW - Sarcoma, Synovial

KW - Sequence Homology, Nucleic Acid

KW - Translocation, Genetic

KW - Tumor Cells, Cultured

KW - Case Reports

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1002/gcc.10210

DO - 10.1002/gcc.10210

M3 - Article

C2 - 12696068

VL - 37

SP - 195

EP - 200

JO - Genes, Chromosomes and Cancer

JF - Genes, Chromosomes and Cancer

SN - 1045-2257

IS - 2

ER -