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对双边原发性乳腺癌的临床和分子特征的研究

Bin Li^1,2, Weiqi Xu^2,3, Jianing Cao^1,2

¹Department of Breast and Urologic Medical Oncology, Fudan University Shanghai Cancer Center, Shanghai, China.

Cancer medicine

|June 9, 2023

概括

双边原发性乳腺癌 (BPBC) 通常呈现为分叶癌,具有激素受体阳性/人体表皮生长因子受体阴性 (HR+/HER2-) 亚型. 需要进一步的研究来确认BPBC患者的特定突变.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
病理学病理学病理学

背景情况:

双边原发性乳腺癌 (BPBC) 是一种罕见的疾病.
关于转移性环境中BPBC的临床病理和分子特征的研究有限.

研究的目的:

在转移性背景下调查BPBC的临床病理和分子特征.
为了比较BPBC与单边乳腺癌 (UBC).

主要方法:

利用了574名转移性乳腺癌患者的下一代测序 (NGS) 数据库,其中包括20名BPBC患者.
从监测,流行病学和最终结果 (SEER) 数据库分析了1467例BPBC和2874例UBC病例.

主要成果:

与UBC相比,BPBC病例显示了叶状元件和HR+/HER2亚型的更高流行率.
转移性病变的分子亚型有时与原发性瘤有所不同,这凸显了再活检的重要性.
在BPBC中常见的突变基因是TP53和PIK3CA,类似于UBC;只发现了一种致病性生殖系BRCA2突变.

结论:

血小板癌的特征可能是叶状腺癌和HR+/HER2-亚型.
对于BPBC,没有独特的特定生殖线或体质突变被确定,这需要进一步调查.

关键词:

双边原发性乳腺癌双边初级乳腺癌临床病理学特征临床病理学特征突变景观的变化这是下一代测序.

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