肝母细胞瘤合并1型神经纤维瘤病1例报告。

IF 1.4 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics Pub Date : 2025-01-22 DOI:10.1016/j.cancergen.2025.01.005

A. Praga , T.Z. Hirsch , D. Vidaud , V. Laithier , E. Puzenat , J. Zucman-Rossi , C. Mussini , P. Kuentz , J. Piard

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引用次数: 0

摘要

背景：1型神经纤维瘤病（NF1）是最常见的遗传性皮肤病之一。它可以影响每个器官，并与良性和恶性肿瘤的风险增加有关。最常见的肿瘤位置涉及神经系统和软组织，但各种各样的肿瘤已被描述。迄今为止，文献中已有2例NF1患者发生肝母细胞瘤的报道。病例介绍：在一名11岁的NF1女孩中发现肝脏肿块，导致诊断为上皮性肝母细胞瘤并肺转移。血液靶向分析显示NF1种系错义变异。对肿瘤和转移性样本进行的外显子组测序、RNA-seq和甲基化分析证实了种系NF1变异，并显示了肝母细胞瘤的经典驱动变异。结论：我们在此报告第三例NF1患者的肝母细胞瘤，并讨论这种罕见肿瘤与这种神经皮肤遗传疾病之间的可能联系。

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Hepatoblastoma in a patient with neurofibromatosis type 1: A case report

Background

Neurofibromatosis type 1 (NF1) is one of the most common genodermatoses. It can affect every organ and is associated with an increased risk of benign and malignant tumors. Most common tumoral locations involve nervous system and soft tissues but a large variety of tumors have been described. So far, hepatoblastoma in a patient with NF1 has been reported twice in the literature.

Case presentation

A liver mass was discovered in a 11 year-old girl with NF1 leading to a diagnosis of epithelial hepatoblastoma with pulmonary metastasis. Targeted analysis on blood revealed a germline NF1 missense variant. Exome sequencing, RNA-seq and methylation analyses performed on tumoral and metastatic samples confirmed the germline NF1 variant and showed classical driver variants for hepatoblastoma.

Conclusions

We present here the third case of hepatoblastoma in a patient with NF1 and discuss the possible link between this rare tumor and this neurocutaneous genetic condition.

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来源期刊

Cancer Genetics ONCOLOGY-GENETICS & HEREDITY

CiteScore

3.20

自引率

5.30%

发文量

167

审稿时长

27 days

期刊介绍： The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.