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肝脏未分化胚胎性肉瘤的分子细胞遗传学特征：一例报告及文献复习

Molecular cytogenetic characterization of undifferentiated embryonal sarcoma of the liver: a case report and literature review.

作者信息

Hu Xiaoxia, Chen Haiying, Jin Meishan, Wang Xianfu, Lee Jiyun, Xu Weihong, Zhang Rui, Li Shibo, Niu Junqi

机构信息

Department of Internal Medicine, The First Hospital of Jilin University, Jilin 130021, China.

出版信息

Mol Cytogenet. 2012 May 3;5(1):26. doi: 10.1186/1755-8166-5-26.

DOI:10.1186/1755-8166-5-26
PMID:22551002
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3478990/
Abstract

Undifferentiated embryonal sarcoma of the liver (UESL) represents a heterogeneous group of tumors derived from mesenchymal tissues. Earlier cytogenetic studies in limited cases demonstrated that UESL is associated with a recurrent translocation t(11;19)(q11;q13.3-q13.4) or add(19)(q13.4). In this report, we present our array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH) findings, and a missense mutation of TP53 gene by DNA sequencing in a 19-year-old patient with UESL. The data were compared to laboratory findings reported by previous studies.

摘要

肝未分化胚胎性肉瘤（UESL）是一组源自间充质组织的异质性肿瘤。早期对有限病例的细胞遗传学研究表明，UESL与复发性易位t(11;19)(q11;q13.3-q13.4)或add(19)(q13.4)相关。在本报告中，我们展示了一名19岁UESL患者的阵列比较基因组杂交（aCGH）、荧光原位杂交（FISH）结果以及通过DNA测序发现的TP53基因错义突变。将这些数据与先前研究报告的实验室结果进行了比较。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d4f/3478990/185f974f45bd/1755-8166-5-26-5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d4f/3478990/8e7b45d0ce1d/1755-8166-5-26-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d4f/3478990/429263e0f07e/1755-8166-5-26-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d4f/3478990/7f246315474c/1755-8166-5-26-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d4f/3478990/18727d3bc8c4/1755-8166-5-26-4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d4f/3478990/185f974f45bd/1755-8166-5-26-5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d4f/3478990/8e7b45d0ce1d/1755-8166-5-26-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d4f/3478990/429263e0f07e/1755-8166-5-26-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d4f/3478990/7f246315474c/1755-8166-5-26-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d4f/3478990/18727d3bc8c4/1755-8166-5-26-4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d4f/3478990/185f974f45bd/1755-8166-5-26-5.jpg

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