背景:虽然融合驱动的软组织肿瘤正在迅速扩大,它们在皮肤和浅层间充质和附件肿瘤中的重要性仍然知之甚少。这种挑战在具有难以基于形态学进行分类的不明确的组织病理学的情况下尤其明显。
目的:我们的目标是研究下一代测序在诊断复杂皮肤肿瘤中的益处。
方法:在部门档案中搜索融合驱动的皮肤肿瘤。检索载玻片并获得包括随访的临床信息。
结果:15例发生在8名女性和7名男性患者中,诊断时的中位年龄为26岁(范围:1-83)。肿瘤累及四肢(9),头皮(5),头部和颈部(1)。主要特征包括肌上皮(5),巢状,细胞质清晰(2),非典型附件/鳞状(2),小圆形蓝色细胞(2),细胞纺锤状(3),和纤维组织细胞形态(1)。最常见的融合涉及EWSR1(6)与ERG(1)融合,FLI1(1),CREB1(2),CREM(1),PBX3(1),其次是PLAG1(4)和LIFR(2),TRPS1(1)和CHCHD7。遇到的其他融合是YAP1::NUTM1,EML4::ALK,SS18::SSX1(2),和一个新的融合:ACTB::ZMIZ2。整合组织学特征和分子表现导致原发性皮肤尤文肉瘤的最终诊断(2),软组织肌上皮瘤(4),皮肤合胞肌上皮瘤(1),皮肤附件癌(1),胃癌(1),炎性肌纤维母细胞瘤(1),滑膜肉瘤(2),透明细胞肉瘤(2),血管瘤样纤维组织细胞瘤(1)。
结论:我们的结果表明,融合测试可能是一种有用的诊断工具,特别是在表面部位有异常或罕见形态的病例。此外,在某些情况下,它可以识别潜在的治疗靶标。
BACKGROUND: While the list of fusion-driven soft tissue neoplasms is expanding rapidly, their importance among cutaneous and superficial mesenchymal and adnexal neoplasms remains poorly understood. This challenge is especially evident in cases with ambiguous histopathology that are difficult to classify based on morphology.
OBJECTIVE: Our goal was to investigate the benefits of next-generation sequencing in diagnosing complex cutaneous neoplasms.
METHODS: Departmental archives were searched for fusion-driven cutaneous neoplasms. Slides were retrieved and clinical information including follow-up was obtained.
RESULTS: Fifteen cases occurred in eight female and seven male patients, with a median age of 26 years (range: 1-83) at diagnosis. Tumors involved the extremities (9), scalp (5), and head and neck (1). Predominant features included myoepithelial (5), nested spindled with clear cytoplasm (2), atypical adnexal/squamoid (2), small round blue cell (2), cellular spindled (3), and fibrohistiocytic morphology (1). Most frequently encountered fusions involved EWSR1 (6) fused to ERG (1), FLI1 (1), CREB1 (2), CREM (1), PBX3 (1), followed by PLAG1 (4) with LIFR (2), TRPS1 (1) and CHCHD7. Additional fusions encountered were YAP1::NUTM1, EML4::ALK, SS18::SSX1 (2), and a novel fusion: ACTB::ZMIZ2. Integration of histologic features and molecular findings led to final diagnoses of primary cutaneous Ewing sarcoma (2), soft tissue myoepithelioma (4), cutaneous syncytial myoepithelioma (1), cutaneous adnexal carcinoma (1), porocarcinoma (1), inflammatory myofibroblastic tumor (1), synovial sarcoma (2), clear cell sarcoma (2), and angiomatoid fibrous histiocytoma (1).
CONCLUSIONS: Our results show that fusion testing can be a helpful diagnostic tool, especially in cases with unusual or uncommon morphology in superficial sites. Furthermore, it can allow for the identification of potential therapeutic targets in some instances.