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小题大做：NRAS、镶嵌性和大型先天性痣。

Making a mountain out of a molehill: NRAS, mosaicism, and large congenital nevi.

机构信息

Department of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

出版信息

J Invest Dermatol. 2013 Sep;133(9):2127-30. doi: 10.1038/jid.2013.146.

DOI:10.1038/jid.2013.146
PMID:23949765
Abstract

Linking phenotypic patterns of melanocytic neoplasia to specific gene mutations allows more precise predicting of clinical behavior and response to targeted therapy. In this issue, Kinsler et al. provide evidence that multiple congenital nevi with central nervous system lesions are likely exclusively the result of mosaic mutations in NRAS. We discuss the link between mosaic NRAS mutations, cellular senescence, and clinical phenotype in these nevi.

摘要

将黑色素细胞肿瘤的表型模式与特定的基因突变联系起来，可以更准确地预测临床行为和对靶向治疗的反应。在本期杂志中，Kinsler 等人提供的证据表明，伴有中枢神经系统病变的多发性先天性痣很可能仅由 NRAS 镶嵌突变引起。我们讨论了镶嵌性 NRAS 突变、细胞衰老与这些痣的临床表型之间的联系。

相似文献

1
Making a mountain out of a molehill: NRAS, mosaicism, and large congenital nevi.小题大做：NRAS、镶嵌性和大型先天性痣。
J Invest Dermatol. 2013 Sep;133(9):2127-30. doi: 10.1038/jid.2013.146.
2
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.多发性先天性黑素细胞痣和神经皮肤黑色素沉着症是由 NRAS 密码子 61 的合子后突变引起的。
J Invest Dermatol. 2013 Sep;133(9):2229-36. doi: 10.1038/jid.2013.70. Epub 2013 Feb 7.
3
Mosaic NRASopathy n a child with giant melanocytic congenital naevus, epidermal hamartoma and bilateral nephroblastomatosis: clinical implication for follow-up.患有巨大先天性黑素细胞痣、表皮错构瘤和双侧肾母细胞瘤病的儿童中的镶嵌NRAS病：随访的临床意义
J Eur Acad Dermatol Venereol. 2018 Jul;32(7):e258-e260. doi: 10.1111/jdv.14780. Epub 2018 Mar 13.
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Amplification of mutated NRAS leading to congenital melanoma in neurocutaneous melanocytosis.导致神经皮肤黑素沉着症中先天性黑色素瘤的突变NRAS扩增。
Melanoma Res. 2015 Oct;25(5):453-60. doi: 10.1097/CMR.0000000000000188.
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Epidermal, sebaceous, and melanocytic nevoid proliferations are spectrums of mosaic RASopathies.表皮、皮脂腺和黑素细胞痣增生是镶嵌性 RAS 病谱。
J Invest Dermatol. 2014 Oct;134(10):2493-2496. doi: 10.1038/jid.2014.244.
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[Neurocutaneous melanosis and multiple congenital melanocytic naevi are associated with post-zygotic N-ras mutations].[神经皮肤黑素沉着症和多发性先天性黑素细胞痣与合子后N-ras突变相关]
Ann Dermatol Venereol. 2014 Apr;141(4):314-5. doi: 10.1016/j.annder.2013.12.006. Epub 2014 Jan 14.
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Aggressive melanoma in an infant with congenital melanocytic nevus syndrome and multiple, NRAS and BRAF mutation-negative nodules.一名患有先天性黑素细胞痣综合征且有多个NRAS和BRAF突变阴性结节的婴儿发生侵袭性黑色素瘤。
Pediatr Dermatol. 2018 Sep;35(5):e281-e285. doi: 10.1111/pde.13595. Epub 2018 Jul 12.
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Hereditary spastic paraplegia masqueraded by congenital melanocytic nevus syndrome: Dual pathogenesis of germline non-mosaicism and somatic mosaicism.先天性黑素细胞痣综合征伪装的遗传性痉挛性截瘫：种系非镶嵌性和体细胞镶嵌性的双重发病机制
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BRAF mutations are also associated with neurocutaneous melanocytosis and large/giant congenital melanocytic nevi.BRAF突变也与神经皮肤黑素沉着症以及大/巨大先天性黑素细胞痣有关。
Pediatr Dev Pathol. 2015 Jan-Feb;18(1):1-9. doi: 10.2350/14-10-1566-OA.1. Epub 2014 Dec 9.
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Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis.儿童神经皮肤黑色素沉着症伴发的原发性间叶脑肿瘤和神经嵴痣中的致癌密码子 13 NRAS 突变。
Acta Neuropathol Commun. 2014 Oct 21;2:140. doi: 10.1186/s40478-014-0140-8.

引用本文的文献

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Pigmented skin lesions with atypical histopathology indicating a diagnosis of multiple metastases of melanoma: A case report.具有非典型组织病理学表现的色素沉着性皮肤病变提示黑色素瘤多发转移的诊断：一例报告。
Oncol Lett. 2025 May 27;30(1):369. doi: 10.3892/ol.2025.15115. eCollection 2025 Jul.
2
Analyzing the Spatial Randomness in the Distribution of Acquired Melanocytic Neoplasms.分析获得性黑色素细胞肿瘤分布的空间随机性。
J Invest Dermatol. 2022 Dec;142(12):3274-3281. doi: 10.1016/j.jid.2022.06.011. Epub 2022 Jul 14.
3
Topical therapy for regression and melanoma prevention of congenital giant nevi.
先天性巨大黑素细胞痣的消退和黑素瘤预防的局部治疗。
Cell. 2022 Jun 9;185(12):2071-2085.e12. doi: 10.1016/j.cell.2022.04.025. Epub 2022 May 12.
4
Novel insights into the pathogenesis and treatment of NRAS mutant melanoma.NRAS 突变型黑色素瘤发病机制与治疗的新见解。
Expert Rev Precis Med Drug Dev. 2021;6(4):281-294. doi: 10.1080/23808993.2021.1938545. Epub 2021 Aug 11.
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NRAS Mutations May Be Involved in the Pathogenesis of Cutaneous Rosai Dorfman Disease: A Pilot Study.NRAS 突变可能参与皮肤 Rosai-Dorfman 病的发病机制：一项初步研究。
Biology (Basel). 2021 May 2;10(5):396. doi: 10.3390/biology10050396.
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Somatic mosaicism: on the road to cancer.体细胞嵌合体：癌症之路。
Nat Rev Cancer. 2016 Jan;16(1):43-55. doi: 10.1038/nrc.2015.1. Epub 2015 Dec 18.
7
Nevospheres from neurocutaneous melanocytosis cells show reduced viability when treated with specific inhibitors of NRAS signaling pathway.当用NRAS信号通路的特异性抑制剂处理时，神经皮肤黑素细胞增多症细胞形成的神经球显示出活力降低。
Neuro Oncol. 2016 Apr;18(4):528-37. doi: 10.1093/neuonc/nov184. Epub 2015 Sep 9.
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NRAS-mutated melanocytic BAP1-associated intradermal tumor (MBAIT): a case report.NRAS 突变的黑素细胞 BAP1 相关真皮内肿瘤（MBAIT）：一例报告
Virchows Arch. 2015 Jan;466(1):117-21. doi: 10.1007/s00428-014-1674-7. Epub 2014 Oct 24.
9
Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis.儿童神经皮肤黑色素沉着症伴发的原发性间叶脑肿瘤和神经嵴痣中的致癌密码子 13 NRAS 突变。
Acta Neuropathol Commun. 2014 Oct 21;2:140. doi: 10.1186/s40478-014-0140-8.