NKX3.1和NKX2.2在间叶性软骨肉瘤中的表达及诊断价值

Expression and diagnostic value of NKX3.1 and NKX2.2 in mesenchymal chondrosarcoma

目的探讨NKX3.1和NKX2.2在间叶性软骨肉瘤(mesenchymal chondrosarcoma,MC)中的免疫组织化学表达情况及两者在MC和其他类型小圆细胞恶性肿瘤中的鉴别诊断价值。方法收集解放军东部战区总医院2001—2020年诊断的12例MC和97例其他小圆细胞恶性肿瘤,进行NKX3.1和NKX2.2免疫组织化学检测,其中在12例MC中采用两种NKX3.1抗体[兔多克隆抗体和兔单克隆抗体(克隆号EP356)]进行检测,在97例其他小圆细胞恶性肿瘤中采用一种NKX3.1抗体(兔多克隆抗体)进行检测,并复习相关文献。结果12例MC患者女性7例,男性5例,平均年龄33岁(范围14~54岁)。其中9例来源于骨,3例来源于软组织。12例MC患者8例术后出现复发或转移,其中3例死亡。12例MC组织学上均具有典型的双向分化特征。免疫表型上,NKX3.1两种抗体在MC中的阳性比例均为12/12;NKX3.1(兔多克隆抗体)在12例软骨肉瘤(3级)、5例腺泡状横纹肌肉瘤、5例胚胎性横纹肌肉瘤和5例孤立性纤维性肿瘤中各1例局灶弱阳性,余70例其他小圆细胞恶性肿瘤均阴性。NKX2.2在MC、尤文肉瘤和嗅神经母细胞瘤中阳性比例分别为12/12、15/15和4/5;在12例软骨肉瘤(3级)、5例低分化滑膜肉瘤、5例腺泡状横纹肌肉瘤和5例孤立性纤维性肿瘤中各1例局灶弱阳性,余50例其他小圆细胞恶性肿瘤均阴性。结论NKX3.1和NKX2.2蛋白表达是MC诊断中有意义的指标,联合检测NKX3.1和NKX2.2有助于鉴别MC和其他大多数小圆细胞恶性肿瘤。

Objective To investigate the immunohistochemical expression of NKX3.1 and NKX2.2 in mesenchymal chondrosarcoma(MC),and to explore the differential diagnostic value of NKX3.1 and NKX2.2 in MC and other types of small round cell malignant tumors.Methods A total of 12 cases of MC and 97 other small round cell malignant tumors diagnosed in Jinling Hospital,Nanjing University School of Medicine from 2001 to 2020 were collected for NKX3.1 and NKX2.2 immunohistochemical detection.Among them,two kinds of NKX3.1 antibodies[rabbit polyclonal antibody and rabbit monoclonal antibody(EP356)]were used for detection in 12 cases of MC,and one NKX3.1 antibody(rabbit polyclonal antibody)was detected in 97 cases of other small round cell malignant tumors,and the relevant literature was reviewed.Results The 12 MC patients included 7 females and 5 males,with a mean age of 33 years(14-54 years).Nine cases were from bone and three from soft tissue.Among the 12 MC patients,8 patients had postoperative recurrence or metastasis,and 3 of them died of tumor recurrence or metastasis.Histologically,12 cases of MC showed typical bidirectional differentiation.The positive rate of both NKX3.1 antibodies in MC was 12/12,NKX3.1 was focal weakly positive in only one of 12 chondrosarcomas(grade 3),5 alveolar rhabdomyosarcomas,5 embryonal rhabdomyosarcomas,and 5 solitary fibrous tumors,respectively.The remaining 70 cases of other small round cell malignant tumors were negative.The positive rates of NKX2.2 in MC,Ewing sarcoma and olfactory neuroblastoma were 12/12,15/15 and 4/5,respectively.In 12 cases of chondrosarcoma(grade 3),5 cases of poorly differentiated synovial sarcoma,5 cases of alveolar rhabdomyosarcoma,and 5 cases of solitary fibrous tumor,NKX2.2 was focally and weakly positive in only one case,respectively,and all the remaining 50 cases of other small round cell malignant tumors were negative.Conclusions The expression of NKX3.1 and NKX2.2 proteins are significant indicators in the diagnosis of MC,and the combined detection of NKX3.1 and NKX2.2 can help distinguish MC from most other small round cell malignant tumors.