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伴有罕见CRTC3-MAML2融合的乳腺黏液表皮样癌。

Breast mucoepidermoid carcinoma with a rare CRTC3-MAML2 fusion.

作者信息

Kawaguchi Kana, Ijichi Hideki, Ueo Hiroki, Hisamatsu Yuichi, Omori Sachie, Shigechi Tomoko, Kawaguchi Kengo, Yamamoto Hidetaka, Oda Yoshinao, Kubo Makoto, Yoshizumi Tomoharu

机构信息

Department of Surgery and Science, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582 Japan.

Department of Breast Surgery, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582 Japan.

出版信息

Int Cancer Conf J. 2024 Aug 12;13(4):481-487. doi: 10.1007/s13691-024-00713-2. eCollection 2024 Oct.

DOI:10.1007/s13691-024-00713-2
PMID:39398906
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11464662/
Abstract

Mucoepidermoid carcinoma is the most prevalent malignancy in the salivary gland and is sporadic in the breast. Here, we report a case of breast mucoepidermoid carcinoma with a rare CREB-regulated transcription coactivator 3-mastermind-like transcriptional coactivator 2 () fusion. A 23-year-old female was admitted to our hospital with a left breast palpable mass. Histologic findings of the core-needle biopsy indicated breast cancer. The section revealed a squamoid tumor-cell proliferation with enlarged nuclei and eosinophilic cytoplasm among smaller intermediate cells and abundant cystic spaces containing secretory materials. The features were compatible with mucoepidermoid carcinoma in low-grade, confirmed by detecting the fusion using reverse transcription polymerase chain reaction and direct sequencing. We only administered tamoxifen postoperatively without other adjuvant therapy because her tumor partially expressed hormonal receptors. No signs indicate a recurrence or metastasis in our over 3 year follow-up. The genetic analysis helps in definitively diagnosing breast mucoepidermoid carcinoma, and the treatment strategy should be considered based on the histologic findings.

摘要

黏液表皮样癌是唾液腺中最常见的恶性肿瘤,在乳腺中为散发性。在此,我们报告一例乳腺黏液表皮样癌,其具有罕见的CREB调节转录共激活因子3-主脑样转录共激活因子2()融合。一名23岁女性因左乳可触及肿块入院。粗针活检的组织学结果显示为乳腺癌。切片显示在较小的中间细胞和含有分泌物质的丰富囊腔中,有鳞状肿瘤细胞增殖,细胞核增大,细胞质嗜酸性。这些特征与低级别黏液表皮样癌相符,通过逆转录聚合酶链反应和直接测序检测到融合得以证实。由于她的肿瘤部分表达激素受体,我们术后仅给予他莫昔芬,未进行其他辅助治疗。在我们超过3年的随访中,没有复发或转移的迹象。基因分析有助于明确诊断乳腺黏液表皮样癌,应根据组织学结果考虑治疗策略。

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本文引用的文献

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Genetic and Immunohistochemical Profiling of Mammary Hidradenoma and Comparison to Mucoepidermoid Carcinoma.乳腺汗腺腺瘤的基因和免疫组织化学分析及其与黏液表皮样癌的比较。
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Pleomorphic adenomas and mucoepidermoid carcinomas of the breast are underpinned by fusion genes.乳腺多形性腺瘤和黏液表皮样癌由融合基因支持。
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Mucoepidermoid carcinoma of the breast: Four case reports and review of the literature.乳腺黏液表皮样癌:4例病例报告并文献复习
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Association of Adjuvant Chemoradiotherapy vs Radiotherapy Alone With Survival in Patients With Resected Major Salivary Gland Carcinoma: Data From the National Cancer Data Base.辅助放化疗与单纯放疗对手术切除的大唾液腺癌患者生存率的影响:来自国家癌症数据库的数据
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Molecular Basis for the Mechanism of Constitutive CBP/p300 Coactivator Recruitment by CRTC1-MAML2 and Its Implications in cAMP Signaling.CRTC1-MAML2组成型募集CBP/p300共激活因子的机制的分子基础及其在cAMP信号传导中的意义
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