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HOXC13 基因位于 12q13 染色体区域，在高分化和去分化脂肪肉瘤中过表达。

Hyperexpression of HOXC13, located in the 12q13 chromosomal region, in well‑differentiated and dedifferentiated human liposarcomas.

机构信息

Division of Pathology, Istituto Nazionale Tumori 'Fondazione G. Pascale'-IRCCS, 80131 Naples, Italy.

出版信息

Oncol Rep. 2013 Dec;30(6):2579-86. doi: 10.3892/or.2013.2760. Epub 2013 Oct 1.

DOI:10.3892/or.2013.2760
PMID:24085196
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3839951/
Abstract

Liposarcoma (LPS) is the most common soft tissue neoplasm in adults and is characterized by neoplastic adipocyte proliferation. Some subtypes of LPSs show aberrations involving the chromosome 12. The most frequent are t(12;16) (q13;p11) present in more than 90% of myxoid LPSs and 12q13-15 amplification in well-differentiated and dedifferentiated LPSs. In this region, there are important oncogenes such as CHOP (DDIT3), GLI, MDM2, CDK4, SAS, HMGA2, but also the HOXC locus, involved in development and tumor progression. In this study, we evaluated the expression of HOXC13, included in this chromosomal region, in a series of adipocytic tumors. We included 18 well-differentiated, 4 dedifferentiated, 11 myxoid and 6 pleomorphic LPSs as well as 13 lipomas in a tissue microarray. We evaluated the HOXC13 protein and gene expression by immunohistochemistry and quantitative PCR. Amplification/translocation of the 12q13-15 region was verified by FISH. Immunohistochemical HOXC13 overexpression was observed in all well-differentiated and dedifferentiated LPSs, all characterized by the chromosome 12q13-15 amplification, and confirmed by quantitative PCR analysis. In conclusion, our data show a deregulation of the HOXC13 marker in well‑differentiated and dedifferentiated LPSs, possibly related to 12q13-15 chromosomal amplification.

摘要

脂肪肉瘤（LPS）是成人中最常见的软组织肿瘤，其特征为肿瘤性脂肪细胞增殖。一些 LPS 亚型表现出涉及 12 号染色体的异常。最常见的是存在于超过 90%黏液样 LPS 中的 t(12;16)(q13;p11)和在高分化和去分化 LPS 中 12q13-15 扩增。在这个区域，有重要的癌基因，如 CHOP（DDIT3）、GLI、MDM2、CDK4、SAS、HMGA2，但也有 HOXC 基因座，涉及发育和肿瘤进展。在这项研究中，我们评估了包含在这个染色体区域内的 HOXC13 在一系列脂肪细胞肿瘤中的表达。我们在组织微阵列中纳入了 18 例高分化、4 例去分化、11 例黏液样和 6 例多形性 LPS 以及 13 例脂肪瘤。我们通过免疫组织化学和定量 PCR 评估 HOXC13 蛋白和基因表达。通过 FISH 验证了 12q13-15 区域的扩增/易位。所有高分化和去分化 LPS 中均观察到 HOXC13 免疫组化过表达，所有这些 LPS 均表现出染色体 12q13-15 扩增，并通过定量 PCR 分析得到证实。总之，我们的数据显示，在高分化和去分化 LPS 中 HOXC13 标志物存在失调，可能与 12q13-15 染色体扩增有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/da5d/3839951/8e21dae25779/OR-30-06-2579-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/da5d/3839951/8442c373cc29/OR-30-06-2579-g00.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/da5d/3839951/df61fa325896/OR-30-06-2579-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/da5d/3839951/8e21dae25779/OR-30-06-2579-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/da5d/3839951/8442c373cc29/OR-30-06-2579-g00.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/da5d/3839951/df61fa325896/OR-30-06-2579-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/da5d/3839951/8e21dae25779/OR-30-06-2579-g02.jpg

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