Background Li-Fraumeni Syndrome (LFS) is a cancer predisposition syndrome characterized by the early-onset of multiple primary cancers which can occur at different moments (metachronous onset) or, more rarely, coincidentally (synchronous onset). Here we describe a previously unreported patient with presentation of synchronous Wilms tumor and Choroid plexus papilloma, leading to the diagnosis of a Li-Fraumeni Syndrome (LFS). Case presentation A 6-year-old girl without previous complains presented with abdominal pain. Abdominal US and MRI showed a left renal tumor with subcapsular hematoma. Due to mild headaches, the diagnostic workup included a brain MRI that unexpectedly identified a large left parietal lobe tumor. Histopathological analysis determined the diagnosis of classic Wilms tumor and choroid-plexus papilloma (CPP), respectively. Both neoplasms showed intense nuclear p53 immunostaining associated with the pathogenic TP53 mutation c.844C > T (p.Arg282Trp). Our patient and her father shared the same heterozygous germline TP53 mutation, confirming the diagnosis of familiar Li-Fraumeni syndrome in the girl. The treatment was tailored to simultaneous tumor presentations. Conclusions LFS has been associated with Choroid plexus carcinoma (CPC), but rarely with CPP as in our patient. That suggests that it may be advisable to consider the possibility of analyzing TP53 mutation, not only in all patients with CPC, but also in some patients with CPP, especially when histological or clinical evidences point out to perform this study. The dissimilar presentation of LFS among our patient’s father, not having so far any neoplasia diagnosed, while her daughter presented precociously with two simultaneous different tumors, could be related to possible effects of modifier genes on the underlying mutant p53 genotype.

中文翻译：

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一个女孩的同步脉络丛乳头状瘤和维尔姆斯肿瘤，揭示了 Li-Fraumeni 综合征

背景 Li-Fraumeni 综合征 (LFS) 是一种癌症易感综合征，其特征是多种原发癌的早期发病，这些癌症可以发生在不同的时刻（异时发病），或者更罕见地，巧合（同步发病）。在这里，我们描述了一个先前未报告的患者，该患者同时出现 Wilms 肿瘤和脉络丛乳头状瘤，导致 Li-Fraumeni 综合征 (LFS) 的诊断。病例介绍 一名 6 岁女孩既往无主诉，出现腹痛。腹部超声和 MRI 显示左肾肿瘤伴包膜下血肿。由于轻度头痛，诊断检查包括脑部 MRI，意外发现左顶叶大肿瘤。组织病理学分析分别确定了经典 Wilms 肿瘤和脉络丛乳头状瘤 (CPP) 的诊断。两种肿瘤都显示出与致病性 TP53 突变 c.844C > T (p.Arg282Trp) 相关的强烈核 p53 免疫染色。我们的患者和她的父亲共享相同的杂合种系 TP53 突变，证实了该女孩熟悉的 Li-Fraumeni 综合征的诊断。该治疗针对同时出现的肿瘤表现而量身定制。结论 LFS 与脉络丛癌 (CPC) 相关，但很少像我们的患者那样与 CPP 相关。这表明考虑分析 TP53 突变的可能性可能是明智的，不仅在所有 CPC 患者中，而且在一些 CPP 患者中，尤其是当组织学或临床证据指出进行这项研究时。我们患者的父亲对 LFS 的不同表现，到目前为止还没有诊断出任何肿瘤，