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Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg.

1 型镶嵌神经纤维瘤病,小腿多发性皮肤弥漫性和丛状神经纤维瘤。

  • 影响因子:1.90
  • DOI:10.21873/anticanres.14327
  • 作者列表:"Friedrich RE","Hagel C","Kohlrusch FK","Schanze I","Wieland I","Zenker M
  • 发表时间:2020-06-01
Abstract

BACKGROUND:Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease with complete penetrance and a very variable phenotype. Recent research has shown that postzygotic NF1 gene mutations occur to a far greater extent than previously thought. The phenotype of affected individuals reflects the time of somatic mutation and the phenotype is correspondingly diverse. This report describes histological and genetic findings in a case of mosaic NF1, the clinical control of which documents almost stationary skin findings over a period of 9 years. CASE REPORT:The 55-year-old female first presented for advice on a strip of nodular skin tumours of the calf skin. She had no hallmarks of NF1. It was only 9 years later that she had the skin tumours removed, all of which were partially diffuse and partially plexiform neurofibroma. The genetic examination showed an atypical large deletion of the NF1 gene in the skin tumours, but not in overlying skin or blood. CONCLUSION:Segmental NF1 is a distinct type of mosaic/somatic NF1 mutation. The phenotype of diffuse and plexiform skin neurofibromas can resemble cutaneous neurofibroma. Surgical therapy for segmental neurofibromatosis does not differ from the concepts for treating nerve sheath tumours in NF1 patients with a germline NF1 mutation.

摘要

背景: 神经纤维瘤病 1 型 (n1) 是一种常染色体显性遗传性疾病,具有完全penetr率和非常多变的表型。最近的研究表明,合子后NF1 基因突变的发生程度远远超过以前的想象。受累个体的表型反映了体细胞突变的时间,表型也相应地具有多样性。本报告描述了 1 例马赛克NF1 的组织学和遗传学发现,临床对照记录了 9 年期间几乎静止的皮肤发现。 病例报告: 55 岁的女性首次就小腿皮肤结节性皮肤肿瘤提出建议。她没有nf1 的标志。仅仅 9 年后,她就切除了皮肤肿瘤,所有这些肿瘤都是部分弥漫性和部分丛状神经纤维瘤。基因检查显示NF1 基因在皮肤肿瘤中存在非典型的大缺失,但在上覆皮肤或血液中不存在。 结论: 节段性NF1 是一种不同类型的镶嵌/体细胞NF1 突变。弥漫性和丛状皮肤神经纤维瘤的表型可以类似于皮肤神经纤维瘤。节段性神经纤维瘤病的手术治疗与生殖系NF1 突变的NF1 患者治疗神经鞘瘤的概念没有区别。

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影响因子:0.96
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DOI:10.1097/DAD.0000000000001459
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皮肤肿瘤方向

皮肤肿瘤是发生在皮肤的细胞增生性疾病,是一种常见病。发生于皮内或皮下组织的新生物,种类很多,临床上分良性肿瘤和恶性肿瘤。恶性肿瘤可以不断增殖,引起转移,威胁生命,称为皮肤癌。

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