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Multifocal paraganglioma, mycosis fungoides, and monoclonal B-cell lymphocytosis in association with mutation.

作者信息

Goyal Amrita, Gaddis Kevin, Bohjanen Kimberly

机构信息

Department of Dermatology, University of Minnesota, Minneapolis, MN.

出版信息

JAAD Case Rep. 2019 Feb 22;5(3):240-241. doi: 10.1016/j.jdcr.2019.01.007. eCollection 2019 Mar.

DOI:10.1016/j.jdcr.2019.01.007
PMID:30847381
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6389551/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/918e/6389551/058e7a6932a8/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/918e/6389551/44d137b90ed0/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/918e/6389551/058e7a6932a8/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/918e/6389551/44d137b90ed0/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/918e/6389551/058e7a6932a8/gr2.jpg

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Multifocal paraganglioma, mycosis fungoides, and monoclonal B-cell lymphocytosis in association with mutation.多灶性副神经节瘤、蕈样肉芽肿和单克隆B细胞淋巴细胞增多症伴突变。
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本文引用的文献

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Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.切除胰腺癌患者的种系癌症易感性基因变异、体细胞二次打击和生存结局。
Genet Med. 2019 Jan;21(1):213-223. doi: 10.1038/s41436-018-0009-5. Epub 2018 Jul 2.
2
Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.靶向下一代测序鉴定早发性/家族性前列腺癌中新基因中的功能丧失性种系突变。
PLoS Genet. 2018 Apr 16;14(4):e1007355. doi: 10.1371/journal.pgen.1007355. eCollection 2018 Apr.
3
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.
扩展与FANCO/RAD51C相关的表型：唇腭裂和叶性全前脑畸形，范可尼贫血中的两个罕见发现。
Eur J Med Genet. 2018 May;61(5):257-261. doi: 10.1016/j.ejmg.2017.12.011. Epub 2017 Dec 24.
4
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers.种系有害变异在 RAD51 同源物中对乳腺癌和卵巢癌的贡献。
Eur J Hum Genet. 2017 Dec;25(12):1345-1353. doi: 10.1038/s41431-017-0021-2. Epub 2017 Nov 8.
5
Genomic analysis of mycosis fungoides and Sézary syndrome identifies recurrent alterations in TNFR2.蕈样肉芽肿和 Sézary 综合征的基因组分析确定了 TNFR2 中的复发性改变。
Nat Genet. 2015 Sep;47(9):1056-60. doi: 10.1038/ng.3370. Epub 2015 Aug 10.
6
Whole-genome sequencing reveals oncogenic mutations in mycosis fungoides.全基因组测序揭示蕈样肉芽肿中的致癌突变。
Blood. 2015 Jul 23;126(4):508-19. doi: 10.1182/blood-2014-11-611194. Epub 2015 Jun 16.
7
Somatic rearrangement of the TP63 gene preceding development of mycosis fungoides with aggressive clinical course.蕈样肉芽肿出现侵袭性临床病程之前TP63基因的体细胞重排。
Blood Cancer J. 2014 Oct 17;4(10):e253. doi: 10.1038/bcj.2014.73.
8
PLCG1 mutations in cutaneous T-cell lymphomas.PLCG1 基因突变与皮肤 T 细胞淋巴瘤。
Blood. 2014 Mar 27;123(13):2034-43. doi: 10.1182/blood-2013-05-504308. Epub 2014 Feb 4.
9
The RAD51 paralogs ensure cellular protection against mitotic defects and aneuploidy.RAD51 蛋白同源物确保细胞免受有丝分裂缺陷和非整倍体的影响。
J Cell Sci. 2013 Jan 1;126(Pt 1):348-59. doi: 10.1242/jcs.114595. Epub 2012 Oct 29.
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CDKN2A-CDKN2B deletion defines an aggressive subset of cutaneous T-cell lymphoma.CDKN2A-CDKN2B 缺失定义了侵袭性皮肤 T 细胞淋巴瘤的一个亚型。
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