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Loss of SMARCA4 Expression Is Both Sensitive and Specific for the Diagnosis of Small Cell Carcinoma of Ovary, Hypercalcemic Type.

SMARCA4表达丢失是诊断卵巢高钙血症型小细胞癌的敏感和特异性指标

Conlon N,Silva A,Guerra E,Jelinic P,Schlappe BA,Olvera N,Mueller JJ,Tornos C,Jungbluth AA,Young RH,Oliva E,Levine D,Soslow RA

Abstract

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare ovarian neoplasm that occurs in young women and has a poor prognosis. The histologic diagnosis of SCCOHT can be challenging due to its rarity and relatively nonspecific histologic features, which range from the classic, first-described small cell morphology to a pattern in which there are large cells with abundant eosinophilic cytoplasm. Many entities can be in the differential diagnosis and to date, immunohistochemical stains have shown no distinctive profile and have been of limited aid. SMARCA4 (also known as BRG1) mutations have recently been reported at high frequency in these tumors. SMARCA4 is an important component of the SWI/SNF complex that regulates gene expression through alteration of nucleosome conformation. Studies to date have suggested that immunohistochemical loss of expression of SMARCA4 is associated with the presence of a SMARCA4 mutation in most cases. In this study, the sensitivity and specificity of the immunohistochemical loss of SMARCA4 expression for the diagnosis of SCCOHT is examined in the context of the differential diagnosis with other primary or metastatic ovarian tumors. All but one of the SCCOHT showed loss of SMARCA4 expression (16/17; 94%), while of 279 other tumors tested, only two tumors (one clear cell carcinoma and one ovarian melanoma) showed loss of SMARCA4 expression. We conclude that SMARCA4 immunohistochemistry is highly sensitive and specific for a diagnosis of SCCOHT and is of clinical utility in the differential diagnosis of poorly differentiated ovarian tumors.

摘要

卵巢高钙血症型小细胞癌(SCCOHT)是一种罕见卵巢肿瘤,发生于年轻女性,预后差。因其罕见及相对非特异性组织学特征(从经典的、最初描述的小细胞形态到含丰富嗜酸性胞质的大细胞样),组织学诊断SCCOHT具有挑战性。需与多种肿瘤进行鉴别。目前为止,无特异性免疫组化染色,且对诊断帮助有限。最近报道,这些肿瘤高发SMARCA4(也称为BRG1)突变。SMARCA4是SWI/SNF复合物的一种重要成份,通过改变核小体构造调节基因表达。目前的研究已表明大多数病例中,免疫组化染色SMARCA4表达丢失与出现SMARCA4突变有关。本研究检测免疫组化染色SMARCA4表达丢失对诊断SCCOHT的敏感性和特异性,用于与其他原发或转移性卵巢肿瘤的鉴别诊断。除1例外,其余全部SCCOHT均显示SMARCA4表达丢失(16/17;94%),而检测的其他279例肿瘤中,仅2例(1例为透明细胞癌,1例为卵巢黑色素瘤)显示SMARCA4表达丢失。我们推断SMARCA4免疫组化染色对诊断SCCOHT具有高度敏感性和特异性,并对差分化卵巢肿瘤的鉴别诊断具有临床意义。

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