INI1 antigen is a product of the INI-1/SMARCB1 gene localized on chromosome 22q. It is well known that INI1 gene inactivation or loss of INI1 antigen expression is observed in epithelioid sarcomas; however, there are only few reports concerning specificity and sensitivity of immunohistochemical INI1 labeling as a marker of this neoplasm. That is why we decided to test 99 soft tissue sarcomas for the presence of the INI1 gene product. More specifically, the analyzed group consisted of 33 synovial sarcomas, 14 fibrosarcomas, 8 desmoid tumors, 8 DFSPs, 5 MPNSTs, 9 epithelioid sarcomas, 11 Ewing sarcomas/PNETs, 9 rhabdomyosarcomas and 2 clear cell sarcomas. Additionally, 7 malignant melanomas and 9 adenocarcinomas were included into the study. Positive staining with an antibody against the INI-1 gene product was observed in all studied cases of MPNST, Ewing sarcoma/PNET, rhabdomyosarcoma, malignant melanoma, clear cell sarcoma, and adenocarcinoma. On the contrary, none of 9 epithelioid sarcomas was labeled. The loss of INI1 expression was also detected in 7 (21.2%) synovial sarcomas, confirmed cytogenetically or by FISH. Considering the lack of reaction with INI-1 antibody as a diagnostic test for epithelioid sarcoma we estimated that its sensitivity reached 100% and specificity -83.5% (p < 0.0001).
Synovial sarcoma is a rare mesenchymal malignant neoplasm that presents a specific t(X;18) translocation forming SS18(SYT)-SSX chimera gene. It is most commonly seen in soft tissues of the extremities. The digestive tract is an exceptional site of involvement. We report a case of primary gastric synovial sarcoma in a 48-year-old female. Differential diagnosis of synovial sarcoma from other spindle cell, mesenchymal and cytokeratin-positive tumors is critical for the treatment and prognosis. Immunohistochemistry studies and molecular analysis are required to settle a proper diagnosis.
Alveolar soft part sarcoma (ASPS) is a rare type of neoplasm, typically occurring in adolescents and young adults. Because of the rarity of this disease, there is no standard treatment plan. Chemotherapy and radiotherapy are not effective in this type of malignancy. Surgical excision is considered to be the treatment of choice. We report a case of a young woman with a painless mass in her left lower abdomen. Ultrasonography and CT scan revealed a large (21 cm) hard tumor occupying the left retroperitoneal space, which was surgically excised in our surgery department. The pathological diagnosis was ASPS.
Primary cardiac sarcomas are extremely uncommon. We report two patients with primary cardiac atrial sarcomas: a case report of a 34-year old woman with intimal sarcoma of the left atrium and a case report of a 30-year old man with synovial sarcoma of the right atrium. Clinicopathological and differential diagnosis with a discussion regarding the role of molecular studies is presented.
Sarcomas and malignant mixed mesodermal tumours of the uterus (MMMT), also called carcinosarcomas, belong to rare uterine ne- oplasms usually characterised by very aggressive clinical behaviour. Due to their low incidence, unknown etiology as well as complex molecular characteristics, until now neither prognostic factors responsible for unfavourable prognosis nor optimal treatment methods have been definitely established. This study attempts to determine prognostic significance of selected morphological parameters. Based on the analysis of primary uterine neoplasms in 43 women (including 30 sarcomas and 13 MMMT) it was shown that prognosis is dependent on the histological type of the neoplasm. The worst prognosis was observed in patients with carcinosarcomas and high- grade endometrial stromal sarcomas. Additionally, it was demonstrated that both aforementioned neoplasms occur in significantly older age groups.
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