Bégueret Hugues, Galateau-Salle Françoise, Guillou Louis, Chetaille Bruno, Brambilla Elisabeth, Vignaud Jean-Michel, Terrier Philippe, Groussard Odile, Coindre Jean-Michel
From the Department of Pathology, Hôpital Haut-Lévêque, Pessac, France.
Am J Surg Pathol. 2005 Mar;29(3):339-46. doi: 10.1097/01.pas.0000147401.95391.9a.
Synovial sarcoma (SS), an aggressive neoplasm accounting for up to 14% of soft tissue sarcomas, was recently recognized as a primary tumor in the lung and pleura. SS is characterized by the chromosomal translocation t(X;18)(SYT-SSX) found in more than 95% of the tumors. We report a cooperative study from the French Sarcoma Group and the Mesopath Group on 40 t(X;18)(SYT-SSX)-positive primary intrathoracic SS. There were 22 males and 18 females, whose age ranged from 16 to 79 years (median, 47 years). Neoplasms were mostly circumscribed and of large size (median, 7.5 cm; range, 2-16 cm). Thirty-nine tumors were monophasic SS, including 24 (60%) monophasic fibrous and 15 (37.5%) poorly differentiated cases, and one lesion was a biphasic SS. A larger proportion of poorly differentiated tumors were observed among intrathoracic SS as compared with soft tissue SS. Immunohistochemically, 90% of the cases reacted with at least one epithelial marker. CD34 was focally expressed in 3 cases. SYT-SSX1 fusion transcripts were detected in 22 cases (56.4%) and SYT-SSX2 fusion transcripts in 17 cases. Median and 5-year disease-specific survival in 33 patients was 50 months and 31.6%. Median and 5-year disease-free survival was 24 months and 20.9%. Patient sex, age, tumor size, histologic subtype, grade, and SYS-SSX fusion type had no significant impact on outcome. In conclusion, intrathoracic SS are rare but aggressive tumors with poor prognosis. In this unusual location, the detection of SYT-SSX fusion transcripts is a valuable diagnostic adjunct.
滑膜肉瘤（SS）是一种侵袭性肿瘤，占软组织肉瘤的比例高达14%，最近被认为是肺和胸膜的原发性肿瘤。SS的特征是在超过95%的肿瘤中发现染色体易位t(X;18)(SYT-SSX)。我们报告了一项来自法国肉瘤研究组和Mesopath研究组的合作研究，该研究涉及40例t(X;18)(SYT-SSX)阳性的原发性胸内SS。其中男性22例，女性18例，年龄范围为16至79岁（中位数为47岁）。肿瘤大多边界清晰且体积较大（中位数为7.5 cm；范围为2至16 cm）。39个肿瘤为单相SS，包括24个（60%）单相纤维型和15个（37.5%）低分化病例，1个病变为双相SS。与软组织SS相比，胸内SS中低分化肿瘤的比例更高。免疫组织化学检测显示，90%的病例与至少一种上皮标志物反应。3例病例中CD34呈局灶性表达。检测到22例（56.4%）SYT-SSX1融合转录本和17例SYT-SSX2融合转录本。33例患者的疾病特异性生存中位数和5年生存率分别为50个月和31.6%。无病生存中位数和5年生存率分别为24个月和20.9%。患者的性别、年龄、肿瘤大小、组织学亚型、分级和SYS-SSX融合类型对预后无显著影响。总之，胸内SS罕见但具有侵袭性，预后较差。在这个不寻常的部位，检测SYT-SSX融合转录本是一种有价值的诊断辅助手段。
