一名患有线性皮脂腺痣综合征的患者口腔乳头状腺瘤伴有 kras 突变。

IF 4.4 Q1 PATHOLOGY PATHOLOGICA Pub Date : 2024-08-01 DOI:10.32074/1591-951X-992
Giulia Querzoli, Giovanni Badiali, Francesco Vitali, Achille Tarsitano, Dario De Biase, Liliana Gabrielli, Maria Pia Foschini
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引用次数: 0

摘要

线性皮脂腺痣综合征(LNSS)是一种罕见的神经皮肤综合征,属于表皮痣综合征,其特征是出现皮脂腺痣和其他皮肤外病变,遗传上与 RAS 家族基因突变有关。乳头状唾液腺瘤(SP)是一种罕见的口腔内良性肿瘤,通常伴有BRAF或HRAS基因突变。我们报告了一例被诊断为LNSS的年轻女性患者,她患上了KRAS突变的SP。这是首例在LNSS背景下出现KRAS突变的SP病例。
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Oral sialadenoma papilliferum with kras mutation in a patient with linear nevus sebaceous syndrome.

Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous syndrome part of the epidermal nevus syndromes group, characterized by the presence of sebaceous nevi and other extracutaneous lesions genetically related to RAS family gene mutations. Sialadenoma papilliferum (SP) is a rare benign intraoral neoplasm which is usually BRAF or HRAS mutated. We report a case of a young female girl diagnosed with a LNSS who developed a SP which had a KRAS mutation. This is the first case of SP with a KRAS mutation in the context of a LNSS.

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来源期刊
PATHOLOGICA
PATHOLOGICA PATHOLOGY-
CiteScore
5.90
自引率
5.70%
发文量
108
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