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Small cell osteosarcoma: clinicopathologic, immunohistochemical, and molecular analysis of 36 cases.

36例小细胞骨肉瘤的临床病理学、免疫组化及分子分析

Righi A,Gambarotti M,Longo S,Benini S,Gamberi G,Cocchi S,Vanel D,Picci P,Bertoni F,Simoni A,Franchi A,Dei Tos AP

Abstract

Small round cell osteosarcoma is a very rare type of osteosarcoma, histologically mimicking other small round cell malignancies of bone, most notably Ewing sarcoma. To distinguish small cell osteosarcoma from other primary small cell malignancies of bone, we evaluated the immunohistochemical (IHC) expression of CD99 and SATB2, a marker of osteoblastic differentiation. Second, we analyzed EWSR1 and FUS gene aberrations using fluorescence in situ hybridization and/or reverse transcription-polymerase chain reaction (RT-PCR) techniques to assess whether small cell osteosarcoma and Ewing sarcoma share the same genetic alteration analysis. Thirty-six cases of primitive small cell osteosarcoma of bone were included in this study. All the cases of small cell osteosarcoma showed strong nuclear expression of SATB2 associated with negativity for CD99 antibody or weak, cytoplasmic staining in few neoplastic cells. Reverse transcription-polymerase chain reaction was negative for EWS-FLI1 type 1-2, EWS-ERG type 1, and CIC-DUX4 in the 10 available cases of small cell osteosarcoma analyzed. Fluorescence in situ hybridization analysis was feasible with a readable signal in 13 cases of small cell osteosarcoma, and none of these cases showed any EWSR1 and FUS gene rearrangements. In conclusion, it appears extremely useful to combine IHC analysis of SATB2 and CD99 with molecular analysis of Ewing sarcoma-associated genetic aberrations, to differentiate small cell osteosarcoma from other small round cell malignancies of bone. The strong IHC expression of SATB2 associated with CD99 immunonegativity and the absence of EWSR1 and FUS gene rearrangements in small cell osteosarcoma argues against the existence of a morphologic/genetic continuum with Ewing sarcoma.

摘要

小圆细胞骨肉瘤是骨肉瘤的一种非常罕见亚型,组织学类似骨的其它小圆细胞恶性肿瘤,特别是尤文氏肉瘤。为鉴别小细胞骨肉瘤及骨的其他原发性小细胞恶性肿瘤,作者对36例原发性骨的小细胞骨肉瘤进行CD99和SATB2(一种成骨细胞分化标记物)的免疫组化(IHC)表达情况进行了评估。并通过荧光原位杂交和/ 或逆转录聚合酶链反应(RT-PCR)分析了EWSR1 和FUS基因异常情况,进一步评估小细胞骨肉瘤和尤文氏肉瘤是否有相同的遗传性学改变。所有的小细胞骨肉瘤中SATB2在细胞核强阳性表达,而CD99阴性或仅少数的肿瘤细胞胞质弱表达。在其中10例有效病例中,RT-PCR检测发现EWS-FLI1 type 1-2、EWS-ERG type 1和 CIC-DUX4阴性。13例小细胞骨肉瘤的荧光原位杂交检测未发现EWSR1和FUS基因重排。总之,通过IHC分析SATB2和CD99的表达,并联合应用分子遗传学分析尤文氏肉瘤相关基因的改变,对于鉴别小细胞骨肉瘤及骨的其它小圆细胞恶性肿瘤是非常有用的。小细胞骨肉瘤中IHC强表达SATB2,不表达CD99,并缺乏EWSR1和FUS基因重排,成为小细胞骨肉瘤与尤文氏肉瘤在形态学/ 遗传学非连续性谱系的证据。


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