背景介紹

MYC基因?qū)儆谠┗?，在伯基特淋巴瘤中發(fā)現(xiàn)（Burkitt lymphoma ，BL），包含C-MYC（8號(hào)染色體）,N-MYC（2號(hào)染色體），L-MYC（1號(hào)染色體）三種基因。DNA斷裂引起MYC基因重排，MYC重排在BL，彌漫性大B細(xì)胞淋巴瘤(diffuse large B-cell lymphom-a，DLBCL)，B細(xì)胞淋巴瘤（B-cell lymphoma）中均會(huì)被檢測到，MYC重排導(dǎo)致MYC基因擴(kuò)增失去控制從而加快癌癥發(fā)展進(jìn)程。MYC-IGH(t(8;14)(q24;q32)）是一種常見的重排形成的融合基因。MYC/IGH/CEP8三色雙重融合探針如圖所示：

探針描述

臨床意義

在疑似伯基特淋巴瘤病例排查中，準(zhǔn)確鑒定MYC重排的必要性已經(jīng)得到了證實(shí)，并且長期以來一直是細(xì)胞遺傳學(xué)分析的常規(guī)檢查部分，在淋巴瘤其他亞型中，對MYC進(jìn)行重排檢測也對疾病診斷有很大的幫助。

參考文獻(xiàn)

[1] Philippa C. May, Nicola Foot ,et al. Detection of cryptic and variant IGH-MYC rearrangements in high-grade non-Hodgkin’s lymphoma by fluorescence in situ hybridization: implications for cytogenetic testing. Cancer Genetics and Cytogenetics 198 (2010) 71-75

[2] Davide F. Robbiani, Anne Bothmer,et al. AID Is Required for the Chromosomal Breaks in cmyc that Lead to c-myc/IgH Translocations. Cell 135, 1028–1038, December 12, 2008

[3] K. Yamamoto, K. Yakushijin and M. Ito et al.MYC amplification on double minute chromosomes in plasma cell leukemia with double IGH/CCND1 fusion genes. Cancer Genetics 242 (2020) 35–40