Clinical and Morphological Features of gPALB2-Associated Breast Cancer in the Russian Population.

IF 0.6 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL
V A Fedko, E V Artamonova, A M Stroganova, V A Mileyko, T S Lisitsa, A K Novikov, E I Kovalenko
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Abstract

The analysis included 3,800 cases of breast cancer. Next-generation sequencing (NGS) of DNA extracted from peripheral blood leukocytes revealed mutations in the gPALB2 gene in 39 (1.03%) patients. The most frequent mutations were c.509_510del (25.64%), c.1592del (20.51%), and c.172_175del (10.26%). The predominant histological variant was invasive ductal carcinoma (84.62%) with moderate differentiation (G2) (48.72%). In most cases, luminal HER2- subtype (69.23%) was revealed, HER2+ and triple-negative were less frequent (12.82 and 17.95%, respectively). Neoadjuvant chemotherapy was administered to 9 patients; a clinical response observed in 100% of cases. RCB-0 (pCR) was noted in 33.3%; RCB-I in 11.1%, RCB-II in 44.4%, and RCB-III in 11.1% of observations. All recorded cases of contralateral breast cancer (10.26%) were metachronous and presented as estrogen receptor-positive HER2- tumors.

俄罗斯人群中gpalb2相关乳腺癌的临床和形态学特征
该分析包括3800例乳腺癌病例。从外周血白细胞中提取的DNA的下一代测序(NGS)显示39例(1.03%)患者中存在gPALB2基因突变。最常见的突变为c.509_510del(25.64%)、c.1592del(20.51%)和c.172_175del(10.26%)。以浸润性导管癌为主(84.62%),伴中度分化(G2)(48.72%)。大多数病例显示腔内HER2-亚型(69.23%),HER2+和三阴性较少(分别为12.82%和17.95%)。9例患者接受新辅助化疗;在100%的病例中观察到临床反应。RCB-0 (pCR)阳性率为33.3%;RCB-I占11.1%,RCB-II占44.4%,RCB-III占11.1%。所有记录的对侧乳腺癌病例(10.26%)均为异时性,表现为雌激素受体阳性HER2-肿瘤。
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来源期刊
Bulletin of Experimental Biology and Medicine
Bulletin of Experimental Biology and Medicine 医学-医学:研究与实验
CiteScore
1.50
自引率
14.30%
发文量
265
审稿时长
2 months
期刊介绍: Bulletin of Experimental Biology and Medicine presents original peer reviewed research papers and brief reports on priority new research results in physiology, biochemistry, biophysics, pharmacology, immunology, microbiology, genetics, oncology, etc. Novel trends in science are covered in new sections of the journal - Biogerontology and Human Ecology - that first appeared in 2005. World scientific interest in stem cells prompted inclusion into Bulletin of Experimental Biology and Medicine a quarterly scientific journal Cell Technologies in Biology and Medicine (a new Russian Academy of Medical Sciences publication since 2005). It publishes only original papers from the leading research institutions on molecular biology of stem and progenitor cells, stem cell as the basis of gene therapy, molecular language of cell-to-cell communication, cytokines, chemokines, growth and other factors, pilot projects on clinical use of stem and progenitor cells. The Russian Volume Year is published in English from April.
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