Yuzawa Sayaka, Nishihara Hiroshi, Wang Lei, Tsuda Masumi, Kimura Taichi, Tanino Mishie, Tanaka Shinya
Departments of *Cancer Pathology †Translational Pathology, Hokkaido University Graduate School of Medicine ‡Translational Research Laboratory, Hokkaido University Hospital, Clinical Research and Medical Innovation Center, Sapporo, Japan.
Am J Surg Pathol. 2016 Aug;40(8):1031-40. doi: 10.1097/PAS.0000000000000625.
Solitary fibrous tumor/hemangiopericytoma (SFT/HPC) is a mesenchymal tumor that can affect virtually any region of the body. SFT/HPC of the thoracic cavity and soft tissue has been histologically considered a single biological entity termed SFT; in fact, NAB2-STAT6 gene fusion was recently identified in both diseases. In contrast, meningeal SFT and HPC still need to be investigated in detail with regard to gene fusion variants. The aim of this study was to verify the frequency of NAB2-STAT6 fusion and the relationship between fusion variants and clinicopathologic findings of SFT/HPC, especially meningeal SFT/HPC. We examined the NAB2-STAT6 fusion by reverse transcription polymerase chain reaction with 4 cases of meningeal SFT and 13 cases of meningeal HPC. NAB2-STAT6 fusion transcripts were identified in 12 of 17 cases, including NAB2ex6-STAT6ex17 (4/17, 24%), NAB2ex6-STAT6ex16 and NAB2ex4-STAT6ex2 (3/17, 18%, respectively), and NAB2ex5-STAT6ex16 (2/17, 12%). Three cases showed a pseudopapillary pattern, and 2 of them carried NAB2ex6-STAT6ex17. In addition, our meta-analysis revealed that the major fusion variant in meningeal SFT/HPC was NAB2ex6-STAT6ex16/17 (29/54, 54%), which was also common in soft tissue and intraperitoneum/retroperitoneum but rare in thoracic SFT. Fusion variant significantly correlated with age and histologic diagnosis in meningeal SFT/HPC but not with prognosis. Our results represented that meningeal SFT and HPC were in a single biological spectrum with NAB2-STAT6 gene fusion as was nonmeningeal SFT and further confirmed the organ-specific tumorigenic process and morphologic differences on the basis of fusion variants in meningeal SFT/HPC.
孤立性纤维性肿瘤/血管外皮细胞瘤（SFT/HPC）是一种间叶性肿瘤，几乎可累及身体的任何部位。胸腔和软组织的SFT/HPC在组织学上被认为是一种单一的生物学实体，称为SFT；事实上，最近在这两种疾病中都发现了NAB2-STAT6基因融合。相比之下，脑膜SFT和HPC在基因融合变异方面仍需详细研究。本研究的目的是验证NAB2-STAT6融合的频率以及融合变异与SFT/HPC，尤其是脑膜SFT/HPC临床病理表现之间的关系。我们通过逆转录聚合酶链反应检测了4例脑膜SFT和13例脑膜HPC中的NAB2-STAT6融合。在17例中的12例中鉴定出NAB2-STAT6融合转录本，包括NAB2ex6-STAT6ex17（4/17，24%）、NAB2ex6-STAT6ex16和NAB2ex4-STAT6ex2（分别为3/17，18%）以及NAB2ex5-STAT6ex16（2/17，12%）。3例表现为假乳头模式，其中2例携带NAB2ex6-STAT6ex17。此外，我们的荟萃分析显示，脑膜SFT/HPC中的主要融合变异是NAB2ex6-STAT6ex16/17（29/54，54%），在软组织和腹腔/腹膜后也很常见，但在胸腔SFT中很少见。融合变异与脑膜SFT/HPC的年龄和组织学诊断显著相关，但与预后无关。我们的结果表明，脑膜SFT和HPC与非脑膜SFT一样，处于以NAB2-STAT6基因融合为特征的单一生物学谱系中，并进一步证实了脑膜SFT/HPC基于融合变异的器官特异性致瘤过程和形态学差异。
