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侵袭性淋巴结边缘区淋巴瘤中的一种新型20号染色体长臂缺失

A Novel del(20q) in Aggressive Nodal Marginal Zone Lymphoma.

作者信息

Kern Jason B, Duff Deiter J, Odem Jamie L, Esebua Magda, Smith Lisa R, Doll Donald, Wang Michael

机构信息

Department of Pathology and Anatomical Sciences, School of Medicine, University of Missouri, Columbia, MO 65203, USA.

出版信息

Case Rep Pathol. 2013;2013:784176. doi: 10.1155/2013/784176. Epub 2013 Feb 12.

DOI:10.1155/2013/784176
PMID:23476863
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3583111/
Abstract

This is a case report of a previously undescribed 20q chromosomal deletion (del(20q)) in marginal zone lymphoma (MZL). A 54-year-old Caucasian male presented with an enlarging neck mass and multiple violaceous skin nodules over his chest. Biopsy of the neck mass and cervical lymph nodes revealed MZL. Cytogenetic evaluation of both lymph node and bone marrow tissue revealed del(20q). This was an unexpected finding, as del(20q) is associated with myelodysplastic syndromes and myeloproliferative neoplasms and rarely seen in diffuse large B-cell lymphoma, follicular lymphoma, and T-cell lymphoma, but has not previously been described in MZL. We describe the case presentation and histologic findings and discuss the significance of this novel finding.

摘要

这是一篇关于边缘区淋巴瘤（MZL）中一种此前未被描述的20号染色体缺失（del(20q)）的病例报告。一名54岁的白种男性出现颈部肿物增大以及胸部多个紫罗兰色皮肤结节。颈部肿物和颈部淋巴结活检显示为MZL。对淋巴结和骨髓组织进行细胞遗传学评估发现del(20q)。这是一个意外发现，因为del(20q)与骨髓增生异常综合征和骨髓增殖性肿瘤相关，在弥漫性大B细胞淋巴瘤、滤泡性淋巴瘤和T细胞淋巴瘤中很少见，但此前在MZL中尚未有描述。我们描述了病例表现和组织学发现，并讨论了这一新发现的意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ba5/3583111/7d7e9d4d0d80/CRIM.PATHOLOGY2013-784176.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ba5/3583111/34006cd48a81/CRIM.PATHOLOGY2013-784176.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ba5/3583111/cad772737ae2/CRIM.PATHOLOGY2013-784176.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ba5/3583111/7d7e9d4d0d80/CRIM.PATHOLOGY2013-784176.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ba5/3583111/34006cd48a81/CRIM.PATHOLOGY2013-784176.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ba5/3583111/cad772737ae2/CRIM.PATHOLOGY2013-784176.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ba5/3583111/7d7e9d4d0d80/CRIM.PATHOLOGY2013-784176.003.jpg

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引用本文的文献

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2
Marginal zone lymphoma-derived interfollicular diffuse large B-cell lymphoma harboring 20q12 chromosomal deletion and missense mutation of BIRC3 gene: a case report.伴有20q12染色体缺失及BIRC3基因错义突变的边缘区淋巴瘤来源的滤泡间弥漫性大B细胞淋巴瘤：一例报告
Diagn Pathol. 2016 Dec 19;11(1):137. doi: 10.1186/s13000-016-0588-x.

本文引用的文献

1
Microarray CGH analyses of chromosomal 20q deletions in patients with hematopoietic malignancies.造血系统恶性肿瘤患者20号染色体q臂缺失的基因芯片比较基因组杂交分析
Cancer Genet. 2012 Jan-Feb;205(1-2):18-24. doi: 10.1016/j.cancergen.2011.12.002.
2
Nodal marginal zone B-cell lymphoma: a diagnostic and therapeutic dilemma.结外边缘区 B 细胞淋巴瘤：诊断与治疗的困境。
Oncology (Williston Park). 2012 Jan;26(1):92-9, 103-4.
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Nodal marginal zone lymphoma with increased large cells: myth versus entity.伴有大细胞增多的淋巴结边缘区淋巴瘤：误区与实体
Arch Pathol Lab Med. 2011 Aug;135(8):964-6. doi: 10.5858/2010-0741-LER.
4
Genome-wide DNA profiling of marginal zone lymphomas identifies subtype-specific lesions with an impact on the clinical outcome.对边缘区淋巴瘤进行全基因组 DNA 分析，可识别具有临床预后影响的亚型特异性病变。
Blood. 2011 Feb 3;117(5):1595-604. doi: 10.1182/blood-2010-01-264275. Epub 2010 Nov 29.