Soft Tissue Tumors: t(X;20)(p11.23;q13.33) in Biphasic Synovial Sarcoma

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Soft Tissue Tumors: t(X;20)(p11.23;q13.33) in Biphasic Synovial Sarcoma

Clinics and Pathology

Disease Biphasic Synovial Sarcoma

Pathology The excised tumor consisted of a single 3-cm nodulus with relatively well-defined borders and a grey cut surface. No necrosis was seen. In histological sections stained with H and E, the tumor was mainly composed of uniform, closely packed spindle cells, with a high nuclear/cytoplasmic ratio and finely dispersed chromatin. The tumor cells were arranged in fascicles and whorls, with small foci of calcification. The mitotic activity was low. In addition, small and irregular glandular formations lined by flattened cuboidal cells were noted in the peripheral parts of the tumor, supporting the diagnosis of biphasic synovial sarcoma. These cells, as well as many spindle cells, expressed cytokeratins and epithelial membrane antigen (EMA).

Treatment The patient was given postoperative chemo- and radiotherapy.

Evolution Four months postoperatively, the patient is alive without any sign of local recurrence or metastatic disease.

Cytogenetics

Cytogenetics
Morphological 48,XY,+mar1,+mar2[5]/47,idem,dic(19;22)(q13;q13)[3] .

Top: Partial karyotype showing G-banded chromosomes X, 18, 20 and markers 1 and 2.
Bottom: FISH cohybridization using a pool of RP11-552E4 and RP11-344N17 (red), RP5-1005F21 (purple), and pZ20 (green) as probes for chromosomes X, 20, and the two markers. The results on mar2 are shown as a three-color image (left), as well as separately for each of the probes (right).

Cytogenetics Molecular With a pool of SSX BAC probes, one and two signals were seen on mar1 and mar2, respectively. On the latter marker chromosome, one of the signals co-localized with the signal from RP5-1005F21, suggesting the presence of a fusion gene between SS18L1 and one of the SSX genes.

Probes RP5-1005F21 (SS18L1), RP11-552E4 and RP11-344N17 (pool of SSX genes).

Genes involved and Proteins

Gene Name SS18L1

Location 20q13.33

Note Paralogous gene to SS18 (18q11.2).

Dna / Rna Genomic (chr20:60,169,869-60,189,352). Transcript of 4566 bp (NM_198935).

Gene Name SSX1

Location Xp11.23

Note Gene belonging to the SSX gene family.

Dna / Rna Genomic (chrX:47,999,741-48,011,823). Transcript of 1271 bp (NM_005635).

Protein 188 amino acids (Q16384).

Result of the chromosomal anomaly

Hybrid Gene
Description Nucleotide 1216 (exon 10) of SS18L1 (Accession Number XM_037202) was fused in-frame with nt 422 (exon 6) of SSX1 (Accession Number X86174).

Fusion Protein
Description In the putative SS18L1/SSX1 chimeric protein, the last 8 amino acid residues of the SS18L1 protein are replaced by 78 amino acids from the COOH-terminal part of SSX1. By analogy with what is presumed to be the case for the SS18/SSX fusion protein, SS18L1/SSX1 is likely to show an altered transcriptional pattern, with the COOH-terminal SSX domain redirecting the SS18L1 activation domain to new target promoters.

Bibliography

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

Storlazzi CT, Mertens F, Mandahl N, Gisselsson D, Isaksson M, Gustafson P, Domanski HA, Panagopoulos I.

Genes Chromosomes Cancer. 2003; 37:195-200.

PMID 12696068

REVIEW articles automatic search in PubMed

Last year publications automatic search in PubMed

Contributor(s)

Written 04-2007 Clelia Tiziana Storlazzi, Fredrik Mertens

Department of Genetics and Microbiology, University of Bari, Via Amendola 165/A, 70126 Bari, Italy (CTS); and Dept of Clinical Genetics, Lund University Hospital, SE-221 85 Lund, Sweden (FM).

Citation

This paper should be referenced as such :
Storlazzi CT, Mertens F . Soft Tissue Tumors: t(X;20)(p11.23;q13.33) in Biphasic Synovial Sarcoma. Atlas Genet Cytogenet Oncol Haematol. April 2007 .
URL : http://AtlasGeneticsOncology.org/Tumors/SynovialSarcomtX20ID5464.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Apr 17 14:14:52 2008

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Disease	Biphasic Synovial Sarcoma
Pathology	The excised tumor consisted of a single 3-cm nodulus with relatively well-defined borders and a grey cut surface. No necrosis was seen. In histological sections stained with H and E, the tumor was mainly composed of uniform, closely packed spindle cells, with a high nuclear/cytoplasmic ratio and finely dispersed chromatin. The tumor cells were arranged in fascicles and whorls, with small foci of calcification. The mitotic activity was low. In addition, small and irregular glandular formations lined by flattened cuboidal cells were noted in the peripheral parts of the tumor, supporting the diagnosis of biphasic synovial sarcoma. These cells, as well as many spindle cells, expressed cytokeratins and epithelial membrane antigen (EMA).
Treatment	The patient was given postoperative chemo- and radiotherapy.
Evolution	Four months postoperatively, the patient is alive without any sign of local recurrence or metastatic disease.

Cytogenetics Morphological	48,XY,+mar1,+mar2[5]/47,idem,dic(19;22)(q13;q13)[3] .


	Top: Partial karyotype showing G-banded chromosomes X, 18, 20 and markers 1 and 2. Bottom: FISH cohybridization using a pool of RP11-552E4 and RP11-344N17 (red), RP5-1005F21 (purple), and pZ20 (green) as probes for chromosomes X, 20, and the two markers. The results on mar2 are shown as a three-color image (left), as well as separately for each of the probes (right).

Cytogenetics Molecular	With a pool of SSX BAC probes, one and two signals were seen on mar1 and mar2, respectively. On the latter marker chromosome, one of the signals co-localized with the signal from RP5-1005F21, suggesting the presence of a fusion gene between SS18L1 and one of the SSX genes.
Probes	RP5-1005F21 (SS18L1), RP11-552E4 and RP11-344N17 (pool of SSX genes).

Gene Name	SS18L1
Location	20q13.33
Note	Paralogous gene to SS18 (18q11.2).
Dna / Rna	Genomic (chr20:60,169,869-60,189,352). Transcript of 4566 bp (NM_198935).

Gene Name	SSX1
Location	Xp11.23
Note	Gene belonging to the SSX gene family.
Dna / Rna	Genomic (chrX:47,999,741-48,011,823). Transcript of 1271 bp (NM_005635).
Protein	188 amino acids (Q16384).

Hybrid Gene
Description	Nucleotide 1216 (exon 10) of SS18L1 (Accession Number XM_037202) was fused in-frame with nt 422 (exon 6) of SSX1 (Accession Number X86174).
Fusion Protein
Description	In the putative SS18L1/SSX1 chimeric protein, the last 8 amino acid residues of the SS18L1 protein are replaced by 78 amino acids from the COOH-terminal part of SSX1. By analogy with what is presumed to be the case for the SS18/SSX fusion protein, SS18L1/SSX1 is likely to show an altered transcriptional pattern, with the COOH-terminal SSX domain redirecting the SS18L1 activation domain to new target promoters.

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Written	04-2007	Clelia Tiziana Storlazzi, Fredrik Mertens
		Department of Genetics and Microbiology, University of Bari, Via Amendola 165/A, 70126 Bari, Italy (CTS); and Dept of Clinical Genetics, Lund University Hospital, SE-221 85 Lund, Sweden (FM).