GLI1改变的间充质肿瘤包括一组看似无关的实体,包括具有t(7;12)易位的周细胞瘤,丛状纤维粘液瘤,胃母细胞瘤,恶性上皮样肿瘤伴GLI1重排,和GLI1扩增的间充质肿瘤。在这里,我们报道了一个具有新型PAMR1::GLI1融合的高级别子宫肉瘤,并对GLI1改变的妇科间充质肿瘤进行了文献综述.一名57岁的女性出现腹部盆腔肿块,十年前就感觉到了。磁共振成像显示不均匀的子宫肌层肿块超出浆膜。患者接受了肿瘤手术切除。大体检查发现穿孔的多结节子宫肿瘤(21厘米),具有牢固的白色和柔软的肉质切面,以出血和坏死为特征。肿瘤在形态上是异质的,坦率地揭示了由多形性纺锤体和局灶性上皮样细胞组成的肉瘤区域,与排列成束的低级梭形细胞的成分混合。有丰富的血管网络和坏死区,周围有类类花胶原蛋白斑块。存在淋巴管浸润和转移至淋巴结和网膜。肿瘤CD10和cyclinD1免疫阳性,细胞角蛋白阴性,生肌,黑色素,和荷尔蒙标记。ArcherTM融合肉瘤检测PAMR1(exon1)::GLI1(exon4)融合,经RT-PCR和Sanger测序证实。病人接受了化疗放疗,然而,术后18个月出现转移性复发和死亡。总之,这是一例罕见且在诊断上具有挑战性的子宫肉瘤病例,其具有新型GLI1融合作用.新兴的GLI/Hedgehog抑制剂提供了在现代病理学中识别这些肿瘤的临床相关性。
GLI1-altered mesenchymal tumors comprise a group of seemingly unrelated entities, including pericytoma with t(7;12) translocation, plexiform fibromyxoma, gastroblastoma, malignant epithelioid neoplasm with GLI1 rearrangements, and GLI1-amplified mesenchymal neoplasms. Herein, we report a high-grade uterine sarcoma harboring a novel PAMR1::GLI1 fusion and present a literature
review of GLI1-altered mesenchymal neoplasms of the gynecologic tract. A 57-year-old female presented with an abdomino-pelvic mass, felt since a decade prior. Magnetic resonance imaging showed a heterogenous myometrial mass extending beyond the serosa. The patient underwent oncologic surgical resection. Gross examination revealed a perforated multi-nodular uterine tumor (21 cm) with a firm white and soft fleshy cut surface, featuring hemorrhage and necrosis. The tumor was morphologically heterogenous, disclosing frankly sarcomatous areas composed of pleomorphic spindle and focally epithelioid cells, intermingled with a component of low-grade spindle cells arranged in fascicles. There was a rich vascular network and zones of necrosis with peripheral amianthoid-like collagen plaques. Lymphovascular invasion and metastasis to lymph nodes and omentum were present. The tumor was immunopositive for CD10 and cyclinD1, and negative for cytokeratins, myogenic, melanotic, and hormonal markers. ArcherTM Fusion Sarcoma Assay detected PAMR1(exon1)::GLI1(exon4) fusion, confirmed on RT-PCR and Sanger sequencing. The patient received chemo-radiotherapy, however, developed metastatic recurrence and demised 18 months post-surgery. Altogether, this is a rare and diagnostically challenging case of a uterine sarcoma harboring a novel GLI1 fusion. Emerging GLI/Hedgehog inhibitors provide clinical relevance to recognizing these tumors in modern pathology.