Madariaga Maria Cecilia, Duke Alexander, Hoda Syed T, Khan Fazel
Department of Orthopaedic Surgery, Stony Brook University Medical Center, Health Sciences Tower - Level 18, Stony Brook, NY, 11794-8181, USA.
Department of Surgical Pathology, NYU Langone Orthopedic Hospital, New York, NY, 10003, USA.
Orthop Res Rev. 2021 Nov 27;13:241-245. doi: 10.2147/ORR.S332441. eCollection 2021.
To the best of the authors' knowledge, this is the first published case of monophasic synovial sarcoma (SS) initially diagnosed as Ewing's sarcoma (ES), yet successfully treated with chemotherapy in a 24-year-old patient. The initial diagnosis showed a monotonous round cell tumor and positivity for CD99, characteristic of ES; however, the cytology was negative for the classic EWSR1 rearrangement of ES. The patient was treated with the standard chemotherapy protocol of ES - COG AEWS1031 Regimen A with vincristine, doxorubicin, cyclophosphamide, and mesna - as well as with wide resection. Post-resection tissue submission showed additional morphologic features which led to a re-evaluation of the classification of the tumor as well as additional molecular studies; these revealed positivity for translocations of SS18 (18q11.1) in 100% of the nuclei, which is most characteristic of SS, thus, reclassifying the neoplasm as a SS tumor. This case underscores the importance of considering several pathologic entities in the differential diagnosis of small, round blue cell tumors, including ES, SS, and lymphoma. It also demonstrates the importance of using chromosomal identification for a more definitive diagnosis, rather than relying on histological features and markers which are found in more than one tumor classification. There is conflicting evidence of the impact of chemotherapy on survival in SS, as it is primarily treated with radiation therapy. Since SS is rare, prospective studies on the effect of chemotherapy on survival are limited in number. However, our case study demonstrates that chemotherapy is another modality that can be used in the treatment of SS neoplasms.
据作者所知，这是首例最初被诊断为尤因肉瘤（ES），但最终成功接受化疗的单相滑膜肉瘤（SS）病例，患者为一名24岁的年轻人。最初的诊断显示为单一的圆形细胞瘤，且CD99呈阳性，这是ES的特征；然而，细胞学检查显示ES经典的EWSR1重排为阴性。患者接受了ES的标准化化疗方案——COG AEWS1031方案A，使用长春新碱、阿霉素、环磷酰胺和美司钠——以及广泛切除。切除术后送检的组织显示出其他形态学特征，这导致对肿瘤分类进行重新评估，并进行了额外的分子研究；这些研究显示100%的细胞核中SS18（18q11.1）易位呈阳性，这是SS最典型的特征，因此，将该肿瘤重新分类为SS肿瘤。该病例强调了在鉴别诊断小圆形蓝细胞瘤时考虑多种病理实体的重要性，包括ES、SS和淋巴瘤。它还表明了使用染色体鉴定进行更明确诊断的重要性，而不是仅仅依赖于在不止一种肿瘤分类中出现的组织学特征和标志物。关于化疗对SS生存影响的证据存在矛盾，因为SS主要采用放射治疗。由于SS罕见，关于化疗对生存影响的前瞻性研究数量有限。然而，我们的病例研究表明，化疗是可用于治疗SS肿瘤的另一种方式。
