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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >BRAFV600E Mutation in Melanotic Neuroectodermal Tumor of Infancy: Toward Personalized Medicine?
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BRAFV600E Mutation in Melanotic Neuroectodermal Tumor of Infancy: Toward Personalized Medicine?

机译：婴儿的黑色素神经外胚层肿瘤中的BRAFV600E突变：走向个性化医学？

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摘要

The melanotic neuroectodermal tumor of infancy (MNTI) is a rare neoplasm that primarily affects the maxilla of infants during their first year of life. Complete resection is the conventional treatment and recurrence rates vary from 10% to 60%. The recurrent tumors grow more aggressively and can invade other anatomic structures, such as the nasal cavity, the orbit, and the skull base. The aggressive behavior of MNTIs may require radical resection, which may not be possible in some cases because of its rapid and invading growth together with invasion of vital structures. In these situations, adjunct radiotherapy or chemotherapy has been used. However, as there are no conclusive data regarding the molecular profile of this tumor, currently there is no targeted therapy that may be used in the treatment of selected aggressive cases. On the basis of MNTI similarities with melanomas, such as derivation from the neural crest cells and presence of large melanin-containing cells, we hypothesized that MNTIs also may harbor the BRAFV600E oncogenic mutation. We show for the first time that this important pediatric tumor may harbor the oncogenic BRAFV600E mutation, providing the first insights to their personalized treatment.
机译：婴儿的黑色素神经外胚层肿瘤（MNTI）是一种罕见的肿瘤，主要影响婴儿一岁时的上颌骨。完全切除是常规治疗，复发率从10％到60％不等。复发性肿瘤的侵袭性更强，可以侵袭其他解剖结构，例如鼻腔，眼眶和颅底。 MNTIs的侵略性行为可能需要根治性切除，在某些情况下，由于其迅速而侵袭性的生长以及对重要结构的侵袭，这可能是不可能的。在这些情况下，已使用辅助放疗或化学疗法。然而，由于没有关于该肿瘤的分子概况的确切数据，因此目前没有可用于治疗选定的侵袭性病例的靶向疗法。基于MNTI与黑色素瘤的相似性，例如源自神经c细胞和含有大量黑色素的细胞的存在，我们假设MNTI也可能具有BRAFV600E致癌突变。我们首次展示了这种重要的儿科肿瘤可能具有致癌性BRAFV600E突变，为他们的个性化治疗提供了第一个见识。

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