Cruz Ofelia, Caloretti Victoria, Salvador Hector, Celis Veronica, Santa-Maria Vicente, Morales La Madrid Andrés, Suñol Mariona, Puerta Patricia, Muchart Jordi, Krauel Lucas, Lavarino Cinzia
Department of Pediatric Oncology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Passeig Sant Joan de Deu 2, 08950, Barcelona, Spain.
Department of Pathology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
Hered Cancer Clin Pract. 2021 Jan 6;19(1):1. doi: 10.1186/s13053-020-00158-7.
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).
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.
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.
李-弗劳梅尼综合征（LFS）是一种癌症易感综合征，其特征是多种原发性癌症早发，这些癌症可在不同时间发生（异时性发病），或更罕见地同时发生（同步性发病）。在此，我们描述了一名此前未报告的患者，其同时出现肾母细胞瘤和脉络丛乳头状瘤，从而确诊为李-弗劳梅尼综合征（LFS）。
一名6岁女童此前无不适主诉，现出现腹痛。腹部超声和磁共振成像（MRI）显示左肾肿瘤伴包膜下血肿。由于轻度头痛，诊断性检查包括脑部MRI，意外发现左顶叶有一个大肿瘤。组织病理学分析分别确诊为经典肾母细胞瘤和脉络丛乳头状瘤（CPP）。两种肿瘤均显示强烈的核p53免疫染色，与致病性TP53突变c.844C＞T（p.Arg282Trp）相关。我们的患者与其父亲共享相同的杂合种系TP53突变，证实该女童患有家族性李-弗劳梅尼综合征。治疗方案根据同时出现的肿瘤情况制定。
LFS与脉络丛癌（CPC）有关，但如我们的患者那样与CPP相关的情况很少见。这表明，不仅对于所有CPC患者，而且对于一些CPP患者，尤其是当组织学或临床证据表明需要进行此项研究时，考虑分析TP53突变的可能性可能是明智的。我们患者的父亲目前尚未诊断出任何肿瘤，而她的女儿却早熟地同时出现两种不同肿瘤，LFS在他们身上的不同表现可能与修饰基因对潜在突变p53基因型的可能影响有关。
