Robert J. Tomsich Institute of Pathology and Laboratory Medicine, Department of Pathology, Cleveland Clinic, Cleveland, OH, USA.
Am J Clin Pathol. 2022 Jan 6;157(1):140-145. doi: 10.1093/ajcp/aqab101.
SMARCA4-deficient undifferentiated tumor has distinct clinicopathologic features. We describe our experience with primary diagnosis on adrenal sampling.
We collected six SMARCA4-deficient undifferentiated tumors diagnosed on adrenal sampling. Immunostains for SMARCA4, SF-1, inhibin, calretinin, S-100 protein, EMA, and TTF-1 were performed. A control group of 63 primary adrenocortical tumors was also immunostained.
Patients included four men and two women (aged 52-77 years). Five had unilateral adrenal masses and one bilateral (range, 2.4-9.6 cm). Five had pulmonary masses, and one had a midline mediastinal mass. All cases had a monotonous epithelioid appearance and variable rhabdoid morphology. Immunophenotypically, all six cases had loss of nuclear SMARCA4 expression and no staining for SF-1, inhibin, calretinin, or S-100 protein. Variable EMA immunoreactivity was present in four of six cases and focal nuclear TTF-1 expression in one of six. All 63 adrenocortical neoplasms had retained nuclear SMARCA4 expression.
SMARCA4-deficient undifferentiated tumor may present in the adrenal gland, and this series likely represents metastases from thoracic primaries. Because of the frequent absence of lineage marker expression, knowledge of the characteristic clinical presentation, the rhabdoid morphology, and the typical immunophenotype (loss of SMARCA4/BRG1) allow for appropriate distinction from adrenocortical carcinoma.
SMARCA4 缺陷未分化肿瘤具有独特的临床病理特征。我们描述了在肾上腺取样时的初步诊断经验。
我们收集了 6 例在肾上腺取样中诊断为 SMARCA4 缺陷未分化肿瘤的病例。进行了 SMARCA4、SF-1、抑制素、钙视网膜蛋白、S-100 蛋白、EMA 和 TTF-1 的免疫组化染色。还对 63 例原发性肾上腺皮质肿瘤的对照组进行了免疫组化染色。
患者包括 4 名男性和 2 名女性（年龄 52-77 岁）。5 例为单侧肾上腺肿块，1 例为双侧（范围 2.4-9.6cm）。5 例有肺部肿块，1 例有中线纵隔肿块。所有病例均具有单调的上皮样外观和可变的横纹肌样形态。免疫表型上，所有 6 例均表现为核 SMARCA4 表达缺失，SF-1、抑制素、钙视网膜蛋白或 S-100 蛋白均无染色。6 例中有 4 例有可变的 EMA 免疫反应性，6 例中有 1 例有核 TTF-1 表达。所有 63 例肾上腺皮质肿瘤均保留了核 SMARCA4 表达。
SMARCA4 缺陷未分化肿瘤可能在肾上腺中出现，本系列病例可能代表来自胸部原发性肿瘤的转移。由于谱系标志物表达的频繁缺失，了解特征性临床表现、横纹肌样形态和典型的免疫表型（SMARCA4/BRG1 缺失）有助于与肾上腺皮质癌进行适当区分。
