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Concomitant loss of SMARCA2 and SMARCA4 expression in small cell carcinoma of the ovary, hypercalcemic type.

卵巢高钙血症型小细胞癌中SMARCA2和SMARCA4共同失表达

Jelinic P,Schlappe BA,Conlon N,Tseng J,Olvera N,Dao F,Mueller JJ,Hussein Y,Soslow RA,Levine DA
阅读:1024 Modern PathologyJan 2016; 29 (1): 2 - 93:60-6 

Abstract

Small cell carcinoma of the ovary, hypercalcemic type is an aggressive tumor generally affecting young women with limited treatment options. Mutations in SMARCA4, a catalytic subunit of the SWI/SNF chromatin remodeling complex, have recently been identified in nearly all small cell carcinoma of the ovary, hypercalcemic type cases and represent a signature molecular feature for this disease. Additional biological dependencies associated with small cell carcinoma of the ovary, hypercalcemic type have not been identified. SMARCA2, another catalytic subunit of the SWI/SNF complex mutually exclusive with SMARCA4, is thought to be post-translationally silenced in various cancer types. We analyzed 10 archival small cell carcinoma of the ovary, hypercalcemic type cases for SMARCA2 protein expression by immunohistochemistry and found that SMARCA2 expression was lost in all but one case. None of the 50 other tumors that primarily or secondarily involved the ovary demonstrated concomitant loss of SMARCA2 and SMARCA4. Deep sequencing revealed that this loss of SMARCA2 expression is not the result of mutational inactivation. In addition, we established a small cell carcinoma of the ovary, hypercalcemic type patient-derived xenograft and confirmed the loss of SMARCA2 in this in vitro model. This patient-derived xenograft model, established from a recurrent tumor, also had unexpected mutational features for this disease, including functional mutations in TP53 and POLE. Taken together, our data suggest that concomitant loss of SMARCA2 and SMARCA4 is another hallmark of small cell carcinoma of the ovary, hypercalcemic type-a finding that offers new opportunities for therapeutic interventions.

摘要

卵巢高钙血症型小细胞癌是一种侵袭性肿瘤,一般发生于年轻女性,治疗手段有限。

最近发现几乎所有卵巢高钙血症型小细胞癌病例均出现SMARCA4(SWI/SNF染色质重塑复合物的一个催化亚基)突变,并成为该疾病的标志性分子特征。目前还未发现其他与卵巢高钙血症型小细胞癌相关的生物学指标。另一个SWI/SNF复合物催化亚基SMARCA2,与SMARCA4相互排斥,被认为在各种类型癌中是翻译后沉默的。

我们运用免疫组化技术分析10例卵巢高钙血症型小细胞癌中SMARCA2蛋白表达,发现除1例外,其余所有病例SMARCA2表达丢失。其他50例原发或继发累及卵巢的肿瘤均未发现SMARCA2和SMARCA4共同失表达。深度测序发现SMARCA2表达丢失不是突变失活的结果。

另外,我们建立了一种卵巢高钙血症型小细胞癌患者源性移植模型,并证实这种体外模型中SMARCA2丢失。建立自复发性肿瘤的患者源性移植物模型,也具有该疾病意外的突变特征,包括TP53和POLE功能性突变。

综上,我们的数据表明SMARCA2和SMARCA4共同失表达是卵巢高钙血症型小细胞癌的另一标志事件,该发现为治疗干预提供了新的契机。

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