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在形瘤倾向综合征患者中,具有"形"特征的SMARCA4缺陷原发性骨肉瘤

Jonathan Sookdeo¹, Lu Wang², Michael W Bishop³

¹Department of Pathology and Laboratory Medicine, University of Tennessee Health Science Center, Memphis, TN, USA.

Virchows Archiv : an international journal of pathology

|August 7, 2024

概括

这项研究报告了一名13岁的患者罕见的高度肉瘤,其特征是SMARCA4损失. 这一发现扩大了已知的SMARCA4缺陷瘤的范围,并表明Rabdoid瘤倾向综合征的含义.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
病理学病理学病理学

背景情况:

SMARCA4是SWI/SNF复合体的关键组成部分,其生殖系致病变体 (PVs) 与二型Rabdoid瘤倾向综合征 (RTPS2) 有关.
RTPS2与特定的癌症有关,如卵巢小细胞癌 (SCCOHT) 和儿科狂犬病瘤.
以前没有记录过带有SMARCA4损失的初级骨瘤.

研究的目的:

描述一种原发性骨肉瘤与SMARCA4缺乏症的新型病例.
为了研究瘤中观察到的SMARCA4损失的遗传基础.
扩大对SMARCA4相关瘤谱及其对遗传性癌症综合征的影响的理解.

主要方法:

对初级高等级大腿骨肉瘤的组织病理学检查.
针对SMARCA4表达的免疫组织化学分析.
生殖线DNA测序以识别SMARCA4的致病变体.
瘤遗传分析,以评估是否失去了异性.

主要成果:

在一名13岁的患者身上发现了一种主要的高等级肉瘤,具有类似于甲状腺癌肉瘤的特征.
瘤表现出SMARCA4免疫表达的扩散性损失.
在患者的生殖系中检测到一种异合体无意义的SMARCA4 PV,在瘤中具有复制中性的异合体性损失.

结论:

这一病例代表了第一个报告的SMARCA4损失的原发性骨瘤.
这些发现扩大了SMARCA4缺乏瘤的范围.
这扩大了对SMARCA4生殖系瘤倾向的临床影响和监测的需要.

关键词:

这就是BRG1的原因.骨肉瘤骨肉瘤是一种骨肉瘤.形瘤倾向症候群 (Rhabdoid Tumor Predisposition Syndrome) 是一种导致形瘤发生倾向的疾病.这就是SMARCA4的标志.在 SWI/SNF 复合体中.甲状腺癌和乳腺癌 (teratocarcinosarcoma) 是一种癌症.

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