一例罕见的肾外子宫体 Wilms 肿瘤:综合基因组图谱和文献综述。

IF 4.4 Q1 PATHOLOGY PATHOLOGICA Pub Date : 2023-12-01 DOI:10.32074/1591-951X-943
Lara Alessandrini, Angela Guerriero, Giada Munari, Biancamaria Del Forno, Luisa Santoro, Matteo Marchetti, Margherita Nardin, Roberto Tozzi, Matteo Fassan, Angelo Paolo Dei Tos
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引用次数: 0

摘要

Wilms 肿瘤(WT)或肾母细胞瘤是一种不常见的恶性肿瘤,好发于儿童患者的肾脏。其肾外部位极为罕见,有报道称其发生在不同部位,包括女性生殖道,其中仅有 9 例发生在子宫体。我们介绍了一例因子宫肿块引起持续性腹痛而接受全腹子宫切除术的成年女性病例。其特征性的三相形态(由上皮、基质和胚芽成分组成)得到了广泛免疫组化的支持,同时影像学排除了肾脏肿瘤的可能性,因此诊断为子宫 WT。该研究还首次通过新一代测序技术对子宫原发性 WT 进行了全面的基因组分析,发现 ERBB2、FGFR23、FGF6、FGFR2 和 RPS6KB1 等基因存在拷贝数变异。我们回顾了以前报道的所有子宫病例,总结了这些病例的主要临床病理特征,并介绍了主要的鉴别诊断方法。我们需要更多的报告来提高我们对预后因素、临床表现和分子改变的认识,从而指导我们做出适当的治疗决策。
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A rare case of extrarenal Wilms tumor of the uterine corpus: comprehensive genomic profile and review of the literature.

Wilms tumor (WT), or nephroblastoma, is an uncommon malignant neoplasm occurring in the kidney of pediatric patients. Its extrarenal location is extremely rare and has been reported in various sites, including the female genital tract, with only 9 cases arising in the uterine corpus. We present the case of an adult woman who underwent total abdominal hysterectomy due to a uterine mass causing persistent abdominal pain. The characteristic triphasic morphology (composed of epithelial, stromal, and blastemal elements) supported by a broad immunohistochemical panel, along with the imaging exclusion of a renal neoplasm, was diagnostic of WT of the uterus. For the first time, a comprehensive genomic profiling of a uterine primary WT was also performed by next-generation sequencing, disclosing alterations at the level of copy number variations in the genes ERBB2, FGFR23, FGF6, FGFR2, and RPS6KB1. All previously reported uterine cases were reviewed, with a summary of their main clinicopathologic characteristics, and the main differential diagnoses are presented. Further reports are needed to improve our knowledge about prognostic factors, clinical behavior and molecular alterations that could guide appropriate therapeutic decision making.

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来源期刊
PATHOLOGICA
PATHOLOGICA PATHOLOGY-
CiteScore
5.90
自引率
5.70%
发文量
108
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