Objective: To investigate the clinicopathological features, immunophenotype, molecular features and differential diagnosis of primary synovial sarcoma of the lung (PSSL). Methods: Twelve cases of PSSL were collected at Henan Provincial People's Hospital, during May 2010 and April 2021, and their clinicopathological parameters were summarized. SS18-SSX, H3K27Me3, and SOX2 were added to the original immunomarkers to evaluate their diagnostic value for PSSL. Results: The age of 12 patients when diagnosed ranged from 32 to 75 years (mean of 50 years). There were 7 males and 5 females, 2 left lung cases and 10 right lung cases. Of the 6 patients who underwent surgical resection, five cases were confined to lung tissue (T1), one case had mediastinal invasion (T3), two cases had regional lymph node metastasis (N1), and none had distal metastasis. Microscopically, 11 cases showed monophasic spindle cell type and one case showed biphasic type composed of mainly epithelial cells consisting of cuboidal to columnar cells with glandular and cribriform structures. It was difficult to make the diagnosis by using the biopsy specimens. Immunohistochemistry (IHC) showed CKpan expression in 8 of 12 cases; EMA expression in 11 of 12 case; TLE1 expression in 8 of 12 cases; S-100 protein expression in two of 12 cases; various expression of bcl-2 and vimentin in 12 cases, but no expression of SOX10 and CD34 in all the cases. The Ki-67 index was 15%-30%. The expression of SS18-SSX fusion antibody was diffusely and strongly positive in all 12 cases. SOX2 was partially or diffusely expressed in 8 of 12 cases, with strong expression in the epithelial component. H3K27Me3 was absent in 3 of 12 cases. SS18 gene translocation was confirmed by fluorescence in situ hybridization (FISH) test in all 12 samples. Six cases underwent surgery and postoperative chemotherapy, while the other six cases had chemotherapy alone. Ten patients were followed up after 9-114 months, with an average of 41 months and a median of 26 months. Five patients survived and five died of the disease within two years. Conclusions: PSSL is rare and has a broad morphological spectrum. IHC and molecular tests are needed for definitive diagnosis. Compared with current commonly used IHC markers, SS18-SSX fusion antibody has better sensitivity to PSSL, which could be used as an alternative for FISH, reverse transcription-polymerase chain reaction or next generation sequencing in the diagnosis of PSSL.
Male ; Female ; Humans ; Adult ; Middle Aged ; Aged ; Biomarkers, Tumor/analysis* ; Sarcoma, Synovial/diagnosis* ; In Situ Hybridization, Fluorescence ; Histones/genetics* ; Proto-Oncogene Proteins/metabolism* ; Oncogene Proteins, Fusion/genetics* ; Repressor Proteins/metabolism* ; Lung/pathology* ; Lung Neoplasms

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*

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

12E7 Antigen ; Antigens, CD ; metabolism ; Cell Adhesion Molecules ; metabolism ; Diagnosis, Differential ; Fibrosarcoma ; metabolism ; pathology ; Heart Neoplasms ; genetics ; metabolism ; pathology ; surgery ; Humans ; Male ; Mesothelioma ; genetics ; metabolism ; pathology ; Middle Aged ; Mucin-1 ; metabolism ; Oncogene Proteins, Fusion ; metabolism ; Pericardiectomy ; Pericardium ; pathology ; Sarcoma ; metabolism ; pathology ; Sarcoma, Synovial ; genetics ; metabolism ; pathology ; surgery ; Translocation, Genetic ; Vimentin ; metabolism

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

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 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

OBJECTIVETo evaluate the application of fluorescence in-situ hybridization (FISH) in detection of gene translocation in paraffin-embedded tissue samples of synovial sarcoma.

METHODSInterphase FISH was carried out in paraffin-embedded tissue of 42 cases of synovial sarcoma and 9 cases of non-synovial sarcoma, using a LSI SYT (18q11.2) dual color break-apart probe. In all of the cases studied, the gene fusion product SYT-SSX was also analyzed by reverse transcription-polymerase chain reaction (RT-PCR).

RESULTSPositive signals were detected in 37 cases (88.1%) of synovial sarcoma by FISH, as compared with 35 cases (83.8%) by RT-PCR and 39 cases (92.9%) by both techniques. Of the 39 positive cases, 33 cases (78.5%) revealed SYT gene translocation.

CONCLUSIONSFISH may serve as an adjunctive diagnostic tool in problematic cases of synovial sarcoma and can be applied in paraffin-embedded tissue samples. As compared with RT-PCR, FISH is also sensitive and reliable. The methodology is less labor intensive and time consuming. FISH has great potential in molecular diagnosis of soft tissue tumors.

Adolescent ; Adult ; Biomarkers, Tumor ; genetics ; Child ; Child, Preschool ; Chromosome Aberrations ; Female ; Head and Neck Neoplasms ; genetics ; metabolism ; Humans ; In Situ Hybridization, Fluorescence ; Lower Extremity ; pathology ; Male ; Middle Aged ; Oncogene Proteins, Fusion ; genetics ; Paraffin Embedding ; Reverse Transcriptase Polymerase Chain Reaction ; Sarcoma, Synovial ; genetics ; metabolism ; Soft Tissue Neoplasms ; genetics ; metabolism ; Young Adult

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