伴有施万细胞增殖、脂肪瘤性肿瘤及KRAS基因镶嵌突变的角质形成细胞性表皮痣综合征
Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation.
作者信息
Farschtschi Said, Mautner Victor-Felix, Hollants Silke, Hagel Christian, Spaepen Marijke, Schulte Christoph, Legius Eric, Brems Hilde
机构信息
Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.
Department of Human Genetics, KU Leuven - University of Leuven, Leuven, Belgium.
出版信息
BMC Med Genet. 2015 Feb 10;16:6. doi: 10.1186/s12881-015-0146-5.
BACKGROUND
Keratinocytic epidermal nevus syndrome (KENS) is a complex disorder not only characterized by the presence of epidermal nevi but also by abnormalities in the internal organ systems. A small number of cases with KENS are molecularly characterized and reported in the literature with somatic activating RAS, FGFR3 and PIK3CA mutations.
CASE PRESENTATION
In this study we present a patient with hyper- and hypopigmented regions, verrucous pigmented skin lesions and a paravertebral conglomerate tumour at the level of the cervical and thoracic spine. A large lipomatous dumbbell tumour caused atrophy of the spinal cord with progressive paraparesis. We identified a mosaic c.35G > A (p.Gly12Asp) KRAS mutation in the pigmented verrucous epidermal nevus tissue, the intraneural schwann cells and the lipoma. The c.35G > A (p.Gly12Asp) KRAS mutation was absent in the peripheral blood leukocytes.
CONCLUSION
We conclude that KENS, the intraneural Schwann cell proliferation and the lipoma in this individual were caused by a postzygotic and mosaic activating c.35G > A (p.Gly12Asp) KRAS mutation.
背景
角质形成细胞性表皮痣综合征（KENS）是一种复杂的疾病，不仅以表皮痣的存在为特征，还伴有内部器官系统异常。文献中报道了少数经分子特征分析的KENS病例，存在体细胞激活型RAS、FGFR3和PIK3CA突变。
病例介绍
在本研究中，我们报告了一名患者，其皮肤有色素沉着过多和过少区域、疣状色素沉着性皮肤病变，以及颈椎和胸椎水平的椎旁 conglomerate 肿瘤。一个巨大的脂肪瘤样哑铃状肿瘤导致脊髓萎缩并伴有进行性双下肢轻瘫。我们在色素沉着性疣状表皮痣组织、神经内施万细胞和脂肪瘤中鉴定出一种嵌合型c.35G＞A（p.Gly12Asp）KRAS突变。外周血白细胞中不存在c.35G＞A（p.Gly12Asp）KRAS突变。
结论
我们得出结论，该个体的KENS、神经内施万细胞增殖和脂肪瘤是由合子后发生的嵌合型激活型c.35G＞A（p.Gly12Asp）KRAS突变引起的。
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