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变异性伪囊性形性小圆细胞瘤与异构的穆勒尔囊

Eric I Nayman^1,2, Carole Brathwaite³, Felipe Pedroso^2,4

¹Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

|January 9, 2025

概括

在一个年轻的女性中,发现了一种罕见的无小圆细胞瘤 (DSRCT) 变体. 这种DSRCT呈现出类似穆勒的状上皮囊,扩大了这种侵略性癌症的已知谱.

科学领域:

在瘤学瘤学.
病理学病理学病理学
遗传学是一个遗传学.

背景情况:

脱型小圆细胞瘤 (DSRCT) 是一种罕见且具有攻击性的肉瘤,主要影响年轻男性.
DSRCT通常呈现出广泛的腹膜干扰.
DSRCT的特征性遗传标志是EWSR1::WT1融合基因.

研究的目的:

报告一个独特的DSRCT病例,具有类似穆勒的状上皮囊.
为了突出DSRCT的潜在变异模式.
为了有助于理解DSRCT的多样化组织病理学表现.

主要方法:

一个13岁的女性患有急性腹部病例报告.
诊断性腹腔镜检查显示盆腔质量和随后的腹结节.
组织病理学检查包括免疫组织化学 (PAX-8+,ER+/PR+) 和分子分析 (EWSR1::WT1融合).

主要成果:

鉴定出了一个2厘米长的骨盆骨头质量,具有状和状细胞图案.
瘤表现出由小细胞组成的巢穴和绳索,形成由状上皮层覆盖的伪囊和真囊.
重复的腹腔镜检查揭示了许多类似的腹结节.
瘤含有EWSR1::WT1融合,证实了DSRCT.

结论:

这种病例呈现出一种新型的DSRCT变体,其特征是类似于穆勒的状上皮囊.
这些发现扩大了DSRCT的组织病理学谱.
DSRCT可以表现出多样化的模式,需要全面的诊断评估.

关键词:

EWSR1::WT1 核聚变问题穆勒的囊是穆勒的囊.在WT1中,WT1就是WT1.这种瘤是desmoplastic小圆细胞瘤.性带状带瘤瘤小圆形蓝细胞瘤小圆形蓝细胞瘤

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