Multiple targets, germline BRCA1 mutation and HRD in a lung cancer patient: Molecular considerations and treatment decision-making.

IF 2 4区 医学 Q3 ONCOLOGY Tumori Pub Date : 2024-12-01 Epub Date: 2024-06-13 DOI:10.1177/03008916241257754
Fabiana Perrone, Francesco Facchinetti, Benedetta Pellegrino, Roberta Minari, Letizia Gnetti, Cinzia Azzoni, Lorena Bottarelli, Nicoletta Campanini, Juan Francisco Grau-Bejar, Anna Mingozzi, Valeria Cognigni, Marcello Tiseo
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Abstract

Introduction: Several biomarkers are currently available to address targeted treatments in cancer patients, with lung malignancies representing one of the best examples.

Case description: We report the case of a patient affected by advanced non-small cell lung cancer with an uncommon histology and a complex biology. The use of a large next-generation sequencing (NGS) NGS panel allowed us to identify an extremely rare BRAF mutation (V600Q), a MET amplification, a high tumor mutational burden, a germline pathogenetic BRCA1 mutation and a homologous recombination deficiency through RAD51 assay. The treatment decision was driven by the abundance of molecular information.

Conclusions: This case highlights that an attentive and critical evaluation of molecular reports is key for the tailoring of treatment algorithms at the patient-level scale.

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肺癌患者的多靶点、种系 BRCA1 基因突变和 HRD:分子因素和治疗决策。
导言:目前有几种生物标志物可用于癌症患者的靶向治疗,肺部恶性肿瘤就是最好的例子:目前有几种生物标志物可用于癌症患者的靶向治疗,肺部恶性肿瘤就是最好的例子之一:我们报告了一名晚期非小细胞肺癌患者的病例,该患者的组织学结构并不常见,生物学特性也很复杂。通过使用大型下一代测序(NGS)NGS面板,我们发现了一个极其罕见的BRAF突变(V600Q)、一个MET扩增、一个高肿瘤突变负荷、一个种系致病性BRCA1突变,并通过RAD51检测发现了一个同源重组缺陷。治疗决定是在大量分子信息的驱动下做出的:本病例突出表明,对分子报告进行仔细和批判性的评估是在患者层面量身定制治疗算法的关键。
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来源期刊
Tumori
Tumori 医学-肿瘤学
CiteScore
3.50
自引率
0.00%
发文量
58
审稿时长
6 months
期刊介绍: Tumori Journal covers all aspects of cancer science and clinical practice with a strong focus on prevention, translational medicine and clinically relevant reports. We invite the publication of randomized trials and reports on large, consecutive patient series that investigate the real impact of new techniques, drugs and devices inday-to-day clinical practice.
期刊最新文献
A case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome. Multiple targets, germline BRCA1 mutation and HRD in a lung cancer patient: Molecular considerations and treatment decision-making. Enhanced patient journey associated with improved overall survival in colon cancer patients: A study by the Ligurian Oncology Network. Hot topics in genitourinary cancers: A multidisciplinary discussion on state-of-the-art and latest developments among international experts and patient advocacy. Practices and views about palliative care at the end of life: A survey of oncologists from the Italian region of Liguria.
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