Objective: To investigate the diagnostic value of expression of CCNB3 and BCOR in BCOR-CCNB3 sarcoma (BCS). Methods: Fifteen cases of BCS confirmed by fluorescence in situ hybridization (FISH) and/or reverse transcription-polymerase chain reaction (RT-PCR) from January 2014 to October 2021 at Beijing Jishuitan Hospital were collected. Immunohistochemical EnVision method was used to detect the expression of CCNB3 and BCOR in 15 cases of BCS and in 65 non-BCS tumors (54 cases of Ewing's sarcoma, 5 cases of CIC rearranged sarcoma, 4 cases of synovial sarcoma, 1 case of mesenchymal chondrosarcoma and 1 case of soft tissue clear cell sarcoma). Results: Immunohistochemical staining for CCNB3 revealed strongly diffuse nuclear staining in 14 of 15 (14/15) BCS cases, whereas none of the 65 non-BCS tumors showed any staining. Immunohistochemical staining for BCOR showed strongly diffuse nuclear staining in 11 (11/14) BCS cases; seven of the 65 (7/65, 10.8%) non-BCS tumors showed variable staining (five cases of Ewing sarcoma, one cases of synovial sarcoma, and one case of mesenchymal chondrosarcoma). The sensitivity and specificity of CCNB3 in diagnosing BCS were 93.3% and 100% and these of BCOR were 78.6% and 89.2%, respectively. Conclusions: CCNB3 is a highly sensitive and specific marker for BCS.The antibody may help screening BCS.
Humans ; Sarcoma, Synovial/genetics* ; In Situ Hybridization, Fluorescence ; Cyclin B/genetics* ; Proto-Oncogene Proteins/genetics* ; Repressor Proteins/genetics*

We experienced a case of primary pulmonary biphasic synovial sarcoma, which was confirmed by immunohistochemistry and molecular testing of SYT-SSX2 fusion transcripts. The patient was a 61-year-old man who presented with a well-defined mass in the left upper lung field on chest radiography. Left upper lobectomy with lymph node dissection was performed. Histological and immunophenotypic features were consistent with biphasic synovial sarcoma. Reverse transcriptase polymerase chain reaction, performed using RNA extracted from frozen tumor samples for the detection of SYT-SSX fusion gene, amplified a single 331-bp fragment that was characteristic of the SYT-SSX2 fusion transcripts. We report a case of primary pulmonary biphasic synovial sarcoma, which was confirmed by SYT-SSX2 fusion transcripts, and present a brief review of the literature on Korean cases.
Base Sequence ; DNA Primers/genetics ; Humans ; Korea ; Lung Neoplasms/diagnosis/*genetics ; Male ; Middle Aged ; Oncogene Proteins, Fusion/*genetics ; Oncogenes ; Sarcoma, Synovial/diagnosis/*genetics

Adolescent ; Child ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Leg ; Male ; Paraffin Embedding ; Sarcoma, Synovial ; diagnosis ; genetics ; pathology ; Soft Tissue Neoplasms ; diagnosis ; genetics ; pathology ; Translocation, Genetic

OBJECTIVETo explore the expression and significance of E-cadherin (E-cad) and beta-catenin (beta-cat) in synovial sarcoma.

METHODSExpression of E-cad and beta-cat in 72 cases of synovial sarcoma were detected by tissue microarray technique and immunohistochemistry. The relationships between E-cad and beta-cat expression and clinicopathological data and survival rate were analyzed.

RESULTS(1) 95.1% of dots on the tissue microarrays were observable morphologically. The background was clear and the contrast was vivid after immunohistochemistry. (2) The expression of E-cad was reduced in 56 patients (77.8%) and that of beta-cat was reduced in 51 patients (70.8%). (3) In patients with synovial sarcoma of monophasic fibrous type, grade III, and in patients with recurrence or metastasis, CK-negative and EMA-negative the rates of reduced expression of E-cad and beta-cat were significantly higher than those with primary sarcoma of biphasic type, grade II, CK-positive and EMA positive (P < 0.05 for all). (4) The survival of synovial sarcoma patients with E-cad and beta-cat expressions preserved was significantly better than those with reduced expressions (P = 0.012, P = 0.047).

CONCLUSIONThe expression of E-cad and beta-cat is correlated with cell differentiation. Reduced expression of E-cad and beta-cat may indicate a high potential of recurrence or metastasis and poor prognosis. Tissue microarray technique is applicable for retrospective studies of large sample size.

Adult ; Cadherins ; biosynthesis ; genetics ; Extremities ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Metastasis ; Prognosis ; Sarcoma, Synovial ; metabolism ; pathology ; Soft Tissue Neoplasms ; metabolism ; pathology ; Tissue Array Analysis ; beta Catenin ; biosynthesis

OBJECTIVETo establish a method of SYT-SSX fusion gene detection by FISH and to explore its diagnostic value for synovial sarcoma.

METHODSThe presence of SYT-SSX fusion gene was determined by FISH using a tissue microarray containing 62 known synovial sarcomas, 60 non-synovial sarcomas and 133 equivocal synovial sarcomas. FISH results were compared with those of RT-PCR published previously.

RESULTSOverall, 96.9% (247/255) of the cases were successfully analyzed by FISH. The sensitivity of FISH for known synovial sarcomas was 96.7% (58/60), and the specificity for the non-synovial sarcoma was 100% (59/59). Moreover, SYT-SSX gene fusion was detected in 78.1% (100/128) of the equivocal synovial sarcomas. The concordance rate between FISH and RT-PCR was 83.6% (102/122) in those equivocal synovial sarcomas, and overall 79.7% (106/133) of these cases were confirmed as synovial sarcomas either by RT-PCR or by FISH.

CONCLUSIONSThe sensitivity and specificity of FISH detection of SYT-SSX fusion gene are high. FISH and RT-PCR are complementary to each other in the confirmation of synovial sarcomas, particularly those questionable cases.

Biomarkers, Tumor ; analysis ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Nucleic Acid Hybridization ; methods ; Oncogene Proteins, Fusion ; genetics ; isolation & purification ; Pathology, Molecular ; methods ; Reverse Transcriptase Polymerase Chain Reaction ; Sarcoma, Synovial ; diagnosis ; genetics ; Soft Tissue Neoplasms ; diagnosis ; genetics

Base Sequence ; Formaldehyde ; chemistry ; Humans ; Molecular Sequence Data ; Oncogene Proteins, Fusion ; genetics ; Paraffin Embedding ; Proto-Oncogene Protein c-fli-1 ; genetics ; RNA, Neoplasm ; genetics ; metabolism ; RNA-Binding Protein EWS ; Reverse Transcriptase Polymerase Chain Reaction ; methods ; Rhabdomyosarcoma ; genetics ; Sarcoma, Ewing ; genetics ; Sarcoma, Synovial ; genetics ; Soft Tissue Neoplasms ; genetics ; Tissue Fixation

Glossectomy ; methods ; Humans ; In Situ Hybridization, Fluorescence ; Keratins ; metabolism ; Male ; Middle Aged ; Oncogene Proteins, Fusion ; genetics ; Sarcoma, Synovial ; genetics ; metabolism ; pathology ; surgery ; Tongue Neoplasms ; genetics ; metabolism ; pathology ; surgery ; Translocation, Genetic ; Vimentin ; metabolism

Adolescent ; Biopsy, Fine-Needle ; Chromosomes, Human, Pair 18 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Oncogene Proteins, Fusion ; genetics ; Proto-Oncogene Proteins c-bcl-2 ; metabolism ; Sarcoma, Synovial ; genetics ; metabolism ; pathology ; Soft Tissue Neoplasms ; genetics ; metabolism ; pathology ; Translocation, Genetic ; Vimentin ; metabolism

OBJECTIVETo analyze the DNA sequence characteristics of translocation t (X; 18) genomic breakpoints and to study the mechanism underlying chromosomal translocation t (X; 18) in synovial sarcoma.

METHODSTwo cases of synovial sarcoma were studied utilizing long-distance polymerase chain reaction (PCR) and sequence analysis to amplify the genomic DNA of translocation t (X; 18) breakpoints.

RESULTSTranslocation t (X; 18) was detected in both cases, which generated SYT-SSX1 and SYT-SSX2 fusion gene respectively. Sequence analysis revealed that intron 10 of SYT was fused to the intron 4 of SSX1 or SSX2. Sequences highly homologous to consensus recognition motifs of translin were found adjacent to breakpoints in all three genes. Breakpoints in the three genes were close to or even at several palindromic oligomer sequences. The breaks in intron 4 of SSX1 and SSX2 were near an Alu sequence. No Alu or other repetitive sequences were found 500 bp upstream or downstream from the break in intron 10 of SYT. One topoisomerase II consensus site was found between the two breakpoints but with considerable distance from intron 10 of SYT.

CONCLUSIONSAll three genes involved in synovial sarcomas contain characteristic sequence motifs in the breakpoint regions which may play an important role in the genesis of chromosomal translocation in synovial sarcoma.

Base Sequence ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, X ; Cloning, Molecular ; DNA, Neoplasm ; analysis ; Humans ; Molecular Sequence Data ; Oncogene Proteins, Fusion ; genetics ; isolation & purification ; Sarcoma, Synovial ; genetics ; Sequence Analysis, DNA ; Translocation, Genetic

OBJECTIVE: Synovial sarcoma (SS) of the head and neck is rare in comparison with those took place in the extremities. This study was planned to investigate the relationship between pathological diagnosis, tumor location and clinical outcome of SS of the head and neck. METHOD: Thirty-nine cases of SS in head and neck hospitalized in West China Hospital from 1966 to 2011 was retrospectively studied by reviewing the medical record data, the pathological slices of the operative specimen and followed-up from 1 to 192 months with the mean time of 43.2 months postoperatively. The parameters of clinical outcome were focused on the time to first recurrence after primary surgery and follow-up time. The reviewed results were statistically processed. RESULT: The age of the patients ranged from 8 to 66 years old with the median age of 35, among them 27 are males. Pathologically, 18 cases are biphasic, 17 cases are monophasic and 3 cases are low-differentiated SS. 4 cases were proved by cytogenetic methods of either fluorescence in situ hybridization(FISH) or RT-PCR. 23 cases experienced repeated recurrence with the most up to 4 times operations after sole surgical approach. Only one lymphatic metastasis was suspected in all. 16 patients got adjuvant radiotherapy or chemotherapy. 4 patients died but only one death was associated directly with SS recurrence. There was no significant relationship between pathological subtype and recurrence (Fisher's Exact Test P-value > 0.05), no significant relationship between tumor location and recurrence (Fisher's Exact Test P-value > 0.05). CONCLUSION SS of head and neck is a special entity that has potential of easy recurrence but good prognosis. Surgery should still be the primary treatment approach. Cytogenetic methods are recommended to as certain the diagnosis in order to choose reasonable treatment protocols.
Adolescent ; Adult ; Aged ; Child ; China ; Female ; Head and Neck Neoplasms ; genetics ; pathology ; therapy ; Humans ; In Situ Hybridization, Fluorescence ; Lymphatic Metastasis ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; Retrospective Studies ; Reverse Transcriptase Polymerase Chain Reaction ; Sarcoma, Synovial ; genetics ; pathology ; therapy ; Young Adult