Cancer genetics · 2025
Hepatoblastoma in a patient with neurofibromatosis type 1: A case report.
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Praga A, Hirsch T Z, Vidaud D, Laithier V, Puzenat E, Zucman-Rossi J, Mussini C, Kuentz P, Piard J
Аннотация
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.
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.