Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

Soft Tissues: Synovial sarcoma with t(X;20)(p11;q13) SS18L1::SSX1

Written2007-04Clelia Tiziana Storlazzi, Fredrik Mertens
Department of Genetics, Microbiology, University of Bari, Via Amendola 165/A, 70126 Bari, Italy (CTS);, Dept of Clinical Genetics, Lund University Hospital, SE-221 85 Lund, Sweden (FM).

(Note : for Links provided by Atlas : click)


ICD-Topo C470-C476,C478-C479,C490-C496,C498-C499 CONNECTIVE & SOFT TISSUE
ICD-Morpho 9040/3 Synovial sarcoma, NOS
Atlas_Id 5464
Phylum Soft Tissues::Synovial sarcoma
WHO/OMS Classification Soft Tissues

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.


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 NameSS18L1 (synovial sarcoma translocation gene on chromosome 18-like 1)
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 NameSSX1 (SSX family member 1)
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.


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 (2) : 195-200.
PMID 12696068


This paper should be referenced as such :
Storlazzi, Clelia T
Soft Tissue Tumors: t(X;20)(p11.23;q13.33) in Biphasic Synovial Sarcoma
Atlas Genet Cytogenet Oncol Haematol. 2007;11(4):340-339.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(X;20)(p11;q13) SS18L1/SSX1

External links

Mitelman database t(X;20)(p11;q13) [CaseList]     t(X;20)(p11;q13) [Transloc - MCList]   SS18L1/SSX1 Fusion - MCList]
COSMIC[ SS18L1 ]   [ SSX1 ]
arrayMap Topo ( C47,C49) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
COSMIC_fusionSS18L1 (20q13.33) SSX1 (Xp11.23)    [fusion1123] [fusion1124]
Mitelman databaseSS18L1/SSX1[MCList]    SS18L1 (20q13.33) SSX1 (Xp11.23)   t(X;20)(p11;q13)
Disease databaseSoft Tissues: Synovial sarcoma with t(X;20)(p11;q13) SS18L1::SSX1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Oct 12 14:40:40 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us