Department of Pathology and Laboratory Medicine, Basavatarakam Indo-American Cancer Hospital and Research Institute, Hyderabad, Telangana, India.
Department of Medical, Basavatarakam Indo-American Cancer Hospital and Research Institute, Hyderabad, Telangana, India.
Indian J Pathol Microbiol. 2021 Jan-Mar;64(1):96-101. doi: 10.4103/IJPM.IJPM_267_20.
: Molecular confirmation of histologic diagnosis has become mandatory for the diagnosis of Ewing sarcoma family of tumors (ESFT).
To validate the diagnosis made by morphology and immunohistochemistry (IHC) by fluorescence in-situ hybridization (FISH) for EWSR1 rearrangement on formalin fixed paraffin embedded (FFPE) tissues. Settings and design: A retrospective and prospective observational study. Material and methods: All patients who had FISH studies for EWSR1 rearrangement for small round cell tumors during 10 years period were included. Demographic, clinical and radiological details were obtained from medical records. Morphology was reviewed with IHC by CD99, FLI1 and others. FISH studies were performed using the break apart probe. Additional molecular studies and IHC were done to resolve the diagnosis in EWSR1 rearranged tumors. Final diagnosis was made by integrating clinical, morphology, IHC and molecular features.
There were 81 patients (M: F 45:36, median age 21 years) with 32 skeletal and 49 extra skeletal tumors. CD 99 was positive in 94.52%. FISH for EWSR1 were positive in 59, negative in 13 and failed in 9. The final diagnosis was made as ESFT in 67, angiomatoid fibrous histiocytoma in 3, desmoplastic small round cell tumor in 3, myxoid chondrosarcoma in 2, unclassified in one, synovial sarcoma in 3, and one each of lymphoma and small cell neuroendocrine carcinoma. FISH was positive for ESFT in 89.83% of EWSR1 rearranged tumors. FISH validated the diagnosis made on IHC in 79.10%. FISH resolved the diagnosis in 1.49% CD99 negative tumors.
FISH is a reliable ancillary technique for the diagnosis of ESFT on FFPE tissues.
对于尤文肉瘤家族肿瘤（ESFT）的诊断，组织学诊断的分子确证已成为强制性要求。
通过荧光原位杂交（FISH）检测福尔马林固定石蜡包埋（FFPE）组织中 EWSR1 重排，验证形态学和免疫组织化学（IHC）诊断的准确性。
回顾性和前瞻性观察性研究。
纳入了 10 年间进行 EWSR1 重排的小圆形细胞肿瘤 FISH 研究的所有患者。从病历中获取人口统计学、临床和影像学详细信息。通过 CD99、FLI1 和其他标志物进行 IHC 检查，以评估形态学。使用分离探针进行 FISH 研究。在 EWSR1 重排肿瘤中进行了额外的分子研究和 IHC 以解决诊断问题。通过整合临床、形态学、IHC 和分子特征来做出最终诊断。
共有 81 名患者（男：女 45:36，中位年龄 21 岁），其中 32 例为骨骼肿瘤，49 例为非骨骼肿瘤。CD99 阳性率为 94.52%。59 例 FISH 结果为阳性，13 例为阴性，9 例检测失败。最终诊断为 ESFT 67 例，血管肌纤维细胞瘤 3 例，促结缔组织增生性小圆细胞肿瘤 3 例，黏液样软骨肉瘤 2 例，未分类 1 例，滑膜肉瘤 3 例，淋巴瘤和小细胞神经内分泌癌各 1 例。EWSR1 重排肿瘤中 ESFT 的 FISH 阳性率为 89.83%。FISH 在 79.10%的 IHC 诊断中得到了验证。FISH 在 1.49%的 CD99 阴性肿瘤中解决了诊断问题。
FISH 是 FFPE 组织中 ESFT 诊断的可靠辅助技术。
