Romeo Salvatore, Rossi Sabrina, Acosta Marín Marthelena, Canal Fabio, Sbaraglia Marta, Laurino Licia, Mazzoleni Guido, Montesco Maria Cristina, Valori Laura, Campo Dell'Orto Marta, Gianatti Andrea, Lazar Alexander Joseph, Dei Tos Angelo Paolo
Department of Pathology, Treviso Regional Hospital, Piazza Ospedale 1, 31100 Treviso, Italy.
Departments of Pathology, The University of Texas M. D. Anderson Cancer Center, Houston, TX USA.
Clin Sarcoma Res. 2015 Feb 12;5:7. doi: 10.1186/s13569-015-0021-3. eCollection 2015.
Recently a few cases of synovial sarcoma (SS) of the abdominal viscera have been reported, raising awareness about the potential for confusion between this entity and KIT-negative gastrointestinal stromal tumors (GIST). We report the clinicopathological, immunophenotypical and molecular features of fifteen more SS occurring in the stomach (8 cases), epigastric region (one case), small intestine (one case), large intestine (three cases), involving both the terminal ileum and the caecum (one case) and liver (one case).
Immunostains for SMA, DESMIN, CD34, CD117, S100, EMA, CK AE1/3, TLE1, CD56, CD99, BCL2, DOG1 were performed. Rearrangement of SS18 gene region was screened in all cases: by conventional karyotype in one case, the remaining cases were screened either by interphase FISH or Q-PCR or both.
Ten patients were male and five female, with an age range of 17-61 years (median 44). Tumor size ranged from 2 to 15 cm (median 8). Mitoses per 10 HPF ranged from 4 to 27 (median 9.5). Eleven tumors were monophasic fibrous SS, one biphasic SS and three poorly differentiated SS. SMA, Desmin, CD34, CD117 and S100 were negative in all cases, whereas EMA and/or CK AE1/AE3 were positive in all cases. TLE1, BCL2 and CD56 were positive in all tested cases. DOG1 was positive in one case. SS18 gene region rearrangement was demonstrated in all cases. A fusion transcript was amplified in eight cases: either SS18-SSX2 or SS18-SSX1 respectively in four cases each.
SS is increasingly recognized at visceral sites. Molecular analyses play a key role when dealing with usual histotypes in unusual sites. Correct diagnosis is crucial for appropriate therapy.
最近有几例腹腔内脏滑膜肉瘤（SS）的病例被报道，这提高了人们对该实体与KIT阴性胃肠道间质瘤（GIST）之间可能混淆的认识。我们报告了另外15例发生在胃（8例）、上腹部区域（1例）、小肠（1例）、大肠（3例）、同时累及回肠末端和盲肠（1例）以及肝脏（1例）的SS的临床病理、免疫表型和分子特征。
进行了平滑肌肌动蛋白（SMA）、结蛋白（DESMIN）、CD34、CD117、S100、上皮膜抗原（EMA）、细胞角蛋白AE1/AE3（CK AE1/3）、TLE1、CD56、CD99、B细胞淋巴瘤-2（BCL2）、DOG1的免疫组化染色。对所有病例进行SS18基因区域重排筛查：1例采用传统核型分析，其余病例采用间期荧光原位杂交（FISH）或定量聚合酶链反应（Q-PCR）或两者同时进行筛查。
10例男性，5例女性，年龄范围为17 - 61岁（中位年龄44岁）。肿瘤大小为2至15厘米（中位值8厘米）。每10个高倍视野（HPF）的核分裂象数为4至27个（中位值9.5）。11例肿瘤为单相纤维型SS，1例为双相型SS，3例为低分化SS。所有病例中SMA、结蛋白、CD34、CD117和S100均为阴性，而所有病例中EMA和/或CK AE1/AE3均为阳性。所有检测病例中TLE1、BCL2和CD56均为阳性。DOG1在1例中为阳性。所有病例均证实有SS18基因区域重排。8例扩增出融合转录本：分别有4例为SS18 - SSX2或SS18 - SSX1。
SS在内脏部位越来越受到认可。在处理不常见部位的常见组织学类型时，分子分析起着关键作用。正确诊断对于恰当治疗至关重要。
