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Secretory carcinoma——impact of translocation and gene fusions on salivary gland tumor
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作者 Ryoko Inaki Masanobu Abe +4 位作者 Liang Zong Takahiro Abe Aya Shinozaki-Ushiku Tetsuo Ushiku Kazuto Hoshi 《Chinese Journal of Cancer Research》 SCIE CAS CSCD 2017年第5期379-384,共6页
Secretory carcinoma(SC), previously described as mammary analogue secretory carcinoma(MASC), is a recently described salivary gland tumor which morphologically resembles mammary secretory carcinoma. The first desc... Secretory carcinoma(SC), previously described as mammary analogue secretory carcinoma(MASC), is a recently described salivary gland tumor which morphologically resembles mammary secretory carcinoma. The first description of SC/MASC, reported by Skálová et al. in 2010, was as a rare salivary carcinoma imitating secretory carcinoma of the breast. SC/MASC is a unique salivary gland tumor with morphological overlap with acinic cell carcinoma(Aci CC), mucoepidermoid carcinoma(MEC), and adenocarcinoma not otherwise specified(ADCNOS). SC/MASC shares similar clinicopathological features with Aci CC. As a critical difference between SC/MASC and Aci CC, SC/MASC characteristically has the chromosomal translocation t(12;15)(p13;q25) which leads to a fusion gene between the ETV6 gene on chromosome 12 and the NTRK3 gene on chromosome 15. This genetic background is an important differential diagnostic finding for excluding other salivary gland tumors and may be a critical factor determining the prognosis for patients with SC/MASC. Research in recent years has provided a large body of new data on SC/MASC and suggests the possibility that the ETV6-NTRK3 translocation could be a therapeutic target. Here, we review the morphological and clinicopathological features of SC/MASC and discuss new directions for therapy. 展开更多
关键词 Secretory carcinoma mammary analogue secretory carcinoma MASC etv6-NTRK3 fusion gene salivary gland tumor
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A Case of Secretory Carcinoma That Occurred in the Buccal Submucosa
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作者 Saito Yoshiro Kurasawa Yuya +5 位作者 Moriya Takashi Ikeda Kenitiro Kushihashi Yukiomi Egawa Shunya Katsuta Hideyuki Shimane Toshikazu 《International Journal of Otolaryngology and Head & Neck Surgery》 2019年第6期191-197,共7页
Secretory carcinoma (SC) is a malignant salivary gland tumor that has been first reported by Skalova et al. in 2010. Histologically, it shows solidity infiltrated with very small cystic cavities and cribriform and pap... Secretory carcinoma (SC) is a malignant salivary gland tumor that has been first reported by Skalova et al. in 2010. Histologically, it shows solidity infiltrated with very small cystic cavities and cribriform and papillary features and includes periodic acid-Schiff stain-positive, acid-fast secretions. The cells have oval nuclei, and vacuolated cytoplasm and foamy secretions are seen. Anaplasia is not strong and mitotic figures are rarely seen. These features closely resemble AciCC. Immunohistologically, it is thought to be positive for S-100 protein, vimentin, and mammaglobin and negative for DOG1. The presence of the ETV6-NTRK3 fusion gene is essential in diagnosing secretory carcinoma. In this report, we describe a case of SC in a 52-year-old woman. She was referred to our center because of a mass in left buccal mucosa. A soft and elastic submucosal mass measuring approximately 10 mm × 10 mm in size with a smooth surface was seen in the buccal mucosa in an area corresponding to the left mandibular canine to premolars. The imaging findings revealed that a high-intensity lesion was seen on T2-weighted images. Immunohistochemicalstaing for S-100 protein and vimentin were positive. Furthermore, genetic examination detected the presence of the ETV6-NTRK3 fusion gene. Based on these findings, the definitive diagnosis was secretory carcinoma. 展开更多
关键词 Secretory Carcinoma etv6-NTRK3 fusion gene Buccal Mucosa
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一例伴t(7;11)(p15;p15)和t(5;12)(q33;p13)染色体易位髓系肿瘤患者的分子遗传学研究 被引量:2
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作者 张修文 周民 +4 位作者 晁红颖 姜乃可 卢绪章 姜玉 张日 《中华医学遗传学杂志》 CAS CSCD 2019年第3期249-252,共4页
目的了解同时伴有t(7;11)(p15;p15)和t(5;12)(q33;p13)罕见染色体易位的髓系肿瘤患者的临床和分子遗传学。方法收集患者的临床表现、实验室特征及诊治经过;用RT-PCR方法扩增融合基因,通过高通量DNA测序联合基因组DNA-PCR技术检测51种髓... 目的了解同时伴有t(7;11)(p15;p15)和t(5;12)(q33;p13)罕见染色体易位的髓系肿瘤患者的临床和分子遗传学。方法收集患者的临床表现、实验室特征及诊治经过;用RT-PCR方法扩增融合基因,通过高通量DNA测序联合基因组DNA-PCR技术检测51种髓系基因突变。结果患者表现主要为皮疹、纳差、乏力及脾肿大;外周血白细胞明显升高,骨髓形态学显示FAB-M2亚型;经RT- PCR证实NUP98/HOXA9和ETV6/PDGFRB融合基因均阳性,二代测序显示WT1 p.C423Y、KRAS p.G12D及DNMT3A p.R882C三种突变共存。传统IAC方案化疗联合伊马替尼治疗后达形态学缓解,但1个月后复发,HAA方案再诱导化疗无效。病程中持续检测NUP98/HOXA9及EV6/PDGFRB转录本水平,提示EV6/PDGFRB在治疗后迅速达到分子学改善,而NUP98/HOXA9则表现为稳定高表达。结论同时伴有t(7;11)(p15;p15)和t(5;12)(q33;p13)易位的AML具有独特的临床及分子遗传学特征,加用伊马替尼不能改善其不良的预后。 展开更多
关键词 NUP98/HOXA9融合基因 etv6/pdgfrb融合基因 伊马替尼 白血病
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