Cancer Genetics最新文献_第3页

Expression and clinical significance of the imprinted gene PHLDA2 in colorectal cancer 印迹基因PHLDA2在结直肠癌中的表达及临床意义。

IF 2.1 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics

Pub Date : 2025-11-01 DOI: 10.1016/j.cancergen.2025.10.104

Haohui Li , Chenting Jin , Fangfang Zhou , Man Bao , Canliang Tan , Zhenchao Luo , Ninglei Li , Yiyi Jin , Luzhe Han , Gang Xiao , Jian Yan

Background

Colorectal cancer (CRC) is one of the most prevalent malignancies worldwide and a leading cause of cancer-related mortality. Tumor progression and metastasis, particularly to the lymph nodes, are critical factors contributing to poor patient outcomes. Identifying molecular markers that predict disease progression and patient survival is essential for improving CRC prognosis and therapeutic strategies.

Objective

This study aims to investigate the clinical significance of PHLDA2 expression in CRC and its potential as a prognostic marker.

Methods

PHLDA2 expression levels in CRC tissues were analyzed using Oncomine database and validated through immunohistochemistry. Mean optical density (MOD) scores were used to quantify PHLDA2 protein expression, and mRNA levels were analyzed in tissue samples. Kaplan-Meier survival analysis was performed to determine the effect of PHLDA2 expression on overall survival (OS). The impact of PHLDA2 on CRC cell behavior was examined by knocking out PHLDA2 in HCT 116 and DLD-1 cell lines, followed by assessments of cell proliferation, migration, invasion, and colony formation in vitro. Additionally, the effects of PHLDA2 knockout were evaluated in xenograft models.

Results

PHLDA2 expression was significantly upregulated in CRC tissues compared to adjacent normal tissues. Elevated PHLDA2 levels were associated with lymph node metastasis, with a high expression in 69.23% of rectal cancer patients with metastasis compared to 33.33% in those without metastasis (p = 0.0363). Patients with higher PHLDA2 expression (2+/3+) had significantly worse OS than those with low or no expression (p < 0.05). Functional assays revealed that PHLDA2 knockout significantly reduced proliferation, migration, invasion, and colony formation in HCT 116 and DLD-1 cells. In vivo, PHLDA2 knockout markedly decreased tumor growth in xenograft models.

Conclusions

Increased PHLDA2 expression is associated with more advanced CRC, particularly in cases with lymph node metastasis, and is linked to poorer survival outcomes. These findings suggest that PHLDA2 may be a valuable prognostic marker in CRC.

背景：结直肠癌（CRC）是世界范围内最常见的恶性肿瘤之一，也是癌症相关死亡的主要原因之一。肿瘤进展和转移，特别是到淋巴结，是导致患者预后不良的关键因素。识别预测疾病进展和患者生存的分子标记对于改善CRC预后和治疗策略至关重要。目的：本研究旨在探讨PHLDA2在结直肠癌中表达的临床意义及其作为预后指标的潜力。方法：使用Oncomine数据库分析结直肠癌组织中PHLDA2的表达水平，并通过免疫组织化学进行验证。使用平均光密度（MOD）评分来量化PHLDA2蛋白的表达，并分析组织样品中的mRNA水平。Kaplan-Meier生存分析测定PHLDA2表达对总生存期（OS）的影响。通过敲除HCT 116和DLD-1细胞系中的PHLDA2来检测PHLDA2对结直肠癌细胞行为的影响，随后评估细胞增殖、迁移、侵袭和体外集落形成。此外，在异种移植模型中评估了PHLDA2敲除的效果。结果：与邻近正常组织相比，结直肠癌组织中PHLDA2的表达明显上调。PHLDA2水平升高与淋巴结转移相关，有转移的直肠癌患者中有69.23%的PHLDA2高表达，而无转移的直肠癌患者中有33.33%的PHLDA2高表达（p = 0.0363）。PHLDA2高表达（2+/3+）患者的OS明显低于低表达或无表达患者（p < 0.05）。功能分析显示PHLDA2敲除显著降低HCT 116和DLD-1细胞的增殖、迁移、侵袭和集落形成。在体内，敲除PHLDA2可显著降低异种移植瘤模型的肿瘤生长。结论：PHLDA2表达增加与晚期结直肠癌相关，特别是在淋巴结转移的病例中，并且与较差的生存结果相关。这些发现提示PHLDA2可能是CRC中一个有价值的预后标志物。

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引用次数: 0

Villin1 predicts survival and adjuvant TACE response in hepatocellular carcinoma 绒毛蛋白1预测肝细胞癌的生存和辅助TACE反应

IF 2.1 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics

Pub Date : 2025-11-01 DOI: 10.1016/j.cancergen.2025.11.003

Dongjun Luo , Chen Wang , Beicheng Sun , Zhu Xu

Adjuvant transcatheter arterial chemoembolization (TACE) has traditionally been performed as an effective treatment for hepatocellular carcinoma (HCC). The present study aims to explore key genes associated with TACE treatment for HCC. We used weighted gene co-expression network analysis (WGCNA) to identify the core gene related to the efficacy of TACE for HCC. The raw data of GSE104580 were downloaded from the Gene Expression Omnibus (GEO), and the differentially expressed genes (DEGs) were analyzed. WGCNA was used to identify the key modules related to the efficacy of TACE for HCC, and the protein-protein interaction (PPI) network was used to screen the core genes. Villin1 (VIL1) was identified as a core gene for predicting TACE response. VIL1 was highly expressed in HCC compared to normal tissues, and high expression of VIL1 was strongly correlated with the poor prognosis of HCC patients. Finally, we used one cohort from our center to validate that high expression of VIL1 was closely related to low TACE efficacy in HCC patients. Our study identified the Villin1 gene that may play an important role in the efficacy of TACE for HCC and may become a potential predictive biomarker for evaluating the efficacy of TACE in HCC patients.

辅助经导管动脉化疗栓塞（TACE）传统上被认为是治疗肝细胞癌（HCC）的有效方法。本研究旨在探索与肝癌TACE治疗相关的关键基因。我们使用加权基因共表达网络分析（WGCNA）来确定与TACE治疗HCC疗效相关的核心基因。从Gene Expression Omnibus （GEO）下载GSE104580的原始数据，分析其差异表达基因（differential Expression genes, DEGs）。利用WGCNA鉴定与TACE治疗HCC疗效相关的关键模块，利用蛋白-蛋白相互作用（PPI）网络筛选核心基因。Villin1 （VIL1）被确定为预测TACE反应的核心基因。与正常组织相比，VIL1在HCC中高表达，且VIL1的高表达与HCC患者预后不良密切相关。最后，我们使用本中心的一个队列来验证HCC患者中VIL1的高表达与低TACE疗效密切相关。我们的研究发现，Villin1基因可能在TACE治疗HCC的疗效中发挥重要作用，并可能成为评估TACE治疗HCC患者疗效的潜在预测性生物标志物。

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引用次数: 0

Clonal cytogenetic abnormality in IgG4-related disease igg4相关疾病的克隆细胞遗传学异常。

IF 2.1 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics

Pub Date : 2025-11-01 DOI: 10.1016/j.cancergen.2025.10.102

Prasad Koduru , Sara Monaghan , Rolando Garcia , Weina Chen

Inflammatory conditions in which immunoglobulin G4 secreting plasma cells infiltrate the affected tissue and form a systemic immune-mediated fibroinflammatory lesion is recognized as IgG4+ related disease. Patients with this disease are at an increased risk for developing neoplasm. Lymphadenopathy is common in patients with IgG4+ related disease; and may clinically resemble lymphoma. Here we describe a patient presented with an IgG4+ related lymphadenopathy (disease) and harbored a clonal cytogenetic abnormality; to our knowledge this is the first report.

分泌免疫球蛋白G4的浆细胞浸润病变组织，形成全身性免疫介导的纤维炎性病变，被认为是IgG4+相关疾病。患有这种疾病的患者患肿瘤的风险增加。淋巴结病变常见于IgG4+相关疾病患者；临床上可能类似淋巴瘤。在这里，我们描述了一个患者提出与IgG4+相关的淋巴结病（疾病）和窝藏克隆细胞遗传学异常；据我们所知，这是第一份报告。

引用次数: 0

Segregation of the rare TP53 germline missense variant c.314G>T, p.Gly105Val in Algerian family with Li-Fraumeni Syndrome: First report 阿尔及利亚Li-Fraumeni综合征家族罕见TP53种系错义变异c.314G>T, p.Gly105Val的分离：首次报道

IF 2.1 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics

Pub Date : 2025-11-01 DOI: 10.1016/j.cancergen.2025.11.001

Farid Cherbal , Djamel-Eddine Seddik , Mouchira Saidi , Fatiha Gachi

Background

Li-Fraumeni syndrome (LFS) is an autosomal dominant disease caused by heterozygous germline pathogenic variant in TP53 gene and frequently predisposes to a broad spectrum of cancers including early-onset cancers. To date, clinical and genetic features of LFS are largely unknown in Algerian population. In this study, we performed germline variants screening in TP53 gene in an Algerian LFS family and we have reclassified the TP53 germline missense variant c.314G>T/ (p.Gly105Val).

Patients and Methods

We selected an LFS family with strong history of cancer along three generations that meets updated Chompret clinical criteria. Four family members were affected with various tumors. The proband in this family, a 4-year-old girl has been diagnosed with rhabdomyosarcoma at age 3 years old and she developed a secondary cancer in the right lung after radiotherapy. Her mother developed an early-onset breast cancer at age 30 years old, her maternal grandmother and her maternal aunt have also been diagnosed with breast cancer at age 33 and 27 years, respectively. We screened TP53 exons 3–11 using PCR-Sanger sequencing in 4 members of this LFS family: the proband, her mother and her father (trio) and her kid brother aged of 2 years old, respectively.

Results

The analysis identified the rare germline missense variant TP53 c.314G>T/ (p.Gly105Val) in heterozygous status in three members of the LFS family: the proband, her mother and her kid brother, respectively. The father has been tested negative for the variant. As the TP53 missense germline variant c.314G>T co-segregates within cancer in our LFS family along two generations, we can classify it for the first time as Class 4 variant with the status “Likely Pathogenic” according to ACMG nomenclature.

Conclusions

Our study highlights the importance of the identification, the interpretation and the reclassification of TP53 missense variants detected in carriers in order to improve prognosis, treatment strategies, and LFS patients monitoring and identifying high risk family members.

背景：Li-Fraumeni综合征（LFS）是一种常染色体显性疾病，由TP53基因杂合性种系致病性变异引起，通常易导致包括早发性癌症在内的多种癌症。迄今为止，LFS在阿尔及利亚人群中的临床和遗传特征在很大程度上是未知的。在这项研究中，我们对阿尔及利亚LFS家族的TP53基因进行了种系变异筛选，并对TP53种系错义变异c.314G>T/ (p.Gly105Val)进行了重新分类。患者和方法：我们选择了一个三代有强烈癌症史的LFS家族，符合最新的Chompret临床标准。四名家庭成员患有各种肿瘤。这个家庭的先证者是一个4岁的女孩，她在3岁时被诊断出患有横纹肌肉瘤，并在放疗后在右肺发展为继发性癌症。她的母亲在30岁时患上了早发性乳腺癌，她的外祖母和姨妈也分别在33岁和27岁时被诊断出患有乳腺癌。我们使用PCR-Sanger测序对LFS家族的4名成员进行了TP53外显子3-11的筛选：先证者，她的母亲和父亲（三人组）以及她2岁的弟弟。结果：分析在LFS家族的三个成员（先证者、母亲和弟弟）中鉴定出了杂合状态的罕见种系错义变异TP53 c.314G>T/ (p.Gly105Val)。父亲的变异基因检测呈阴性。由于TP53错义种系变异体c.314G>T在我们LFS家族的肿瘤中共分离了两代，我们首次可以根据ACMG命名法将其分类为4类变异体，状态为“可能致病”。结论：我们的研究强调了在携带者中检测到的TP53错义变异的识别、解释和重新分类对于改善预后、治疗策略以及LFS患者监测和识别高危家庭成员的重要性。

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引用次数: 0

Decoding the genetic complexity in a pediatric case of B-ALL through long-read genomic sequencing and RNA sequencing 通过长读基因组测序和RNA测序解码儿童B-ALL病例的遗传复杂性。

IF 2.1 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics

Pub Date : 2025-11-01 DOI: 10.1016/j.cancergen.2025.11.002

Mei Ling Chong , Sok Meng Evelyn Ng , Hongyan Chai , Autumn Diadamo , Aron Flagg , Nicole Marie Owen , Peining Li , Jiadi Wen

B-cell acute lymphoblastic leukemia (B-ALL) is a heterogeneous hematologic malignancy caused by diverse genetic alterations. While cytogenetic methods such as karyotyping and FISH are routinely used in diagnostics, cryptic and novel oncogenic gene fusions often go undetected. We report a 15-year-old male diagnosed with high-risk B-ALL, presenting with anemia, leukocytosis, and significant lymphoblast burden. Initial karyotyping identified an abnormal clone with a t(7;20)(q34;q13.3) and FISH detected a partial deletion of the ABL1 gene. Chromosome microarray analysis revealed a deletion at 9p21.3 encompassing CDKN2A/CDKN2B and several contiguous copy number aberrations at 9q34.12q34.2. Further long-read genomic sequencing uncovered cryptic NUP214::ABL1 and ABL1::TSC1 fusions, as well as a novel VAPB::TRBV30 rearrangement from the t(7;20). RNA sequencing confirmed the transcripts for both ABL1 fusions and a noncoding rearrangement involving the TCRB locus. Notably, the presence of NUP214::ABL1 identified a clinically actionable target, supporting the use of tyrosine kinase inhibitors (TKIs) such as imatinib. This case underscores the critical role of integrated sequencing approaches in identifying cryptic genetic alterations in B-ALL for precise classification of oncogenic drivers and for targeted therapeutic strategies to improve patient outcomes.

b细胞急性淋巴细胞白血病（B-ALL）是一种由多种基因改变引起的异质性血液恶性肿瘤。虽然细胞遗传学方法如核型和FISH通常用于诊断，但隐藏的和新的致癌基因融合通常未被发现。我们报告一个15岁的男性诊断为高风险B-ALL，表现为贫血、白细胞增多和明显的淋巴细胞负担。初始核型鉴定出一个带有t(7;20)（q34;q13.3）的异常克隆，FISH检测到ABL1基因的部分缺失。染色体微阵列分析显示9p21.3缺失包含CDKN2A/CDKN2B和9q34.12 . q34.2的几个连续拷贝数畸变。进一步的长读基因组测序发现了隐藏的NUP214::ABL1和ABL1::TSC1融合，以及来自t的新的VAPB::TRBV30重排（7;20）。RNA测序证实了ABL1融合和涉及TCRB位点的非编码重排的转录本。值得注意的是，NUP214::ABL1的存在确定了一个临床可操作的靶点，支持使用酪氨酸激酶抑制剂（TKIs），如伊马替尼。该病例强调了综合测序方法在确定B-ALL的隐性遗传改变，精确分类致癌驱动因素和有针对性的治疗策略以改善患者预后方面的关键作用。

{"title":"Decoding the genetic complexity in a pediatric case of B-ALL through long-read genomic sequencing and RNA sequencing","authors":"Mei Ling Chong , Sok Meng Evelyn Ng , Hongyan Chai , Autumn Diadamo , Aron Flagg , Nicole Marie Owen , Peining Li , Jiadi Wen","doi":"10.1016/j.cancergen.2025.11.002","DOIUrl":"10.1016/j.cancergen.2025.11.002","url":null,"abstract":"<div><div>B-cell acute lymphoblastic leukemia (B-ALL) is a heterogeneous hematologic malignancy caused by diverse genetic alterations. While cytogenetic methods such as karyotyping and FISH are routinely used in diagnostics, cryptic and novel oncogenic gene fusions often go undetected. We report a 15-year-old male diagnosed with high-risk B-ALL, presenting with anemia, leukocytosis, and significant lymphoblast burden. Initial karyotyping identified an abnormal clone with a t(7;20)(q34;q13.3) and FISH detected a partial deletion of the <em>ABL1</em> gene. Chromosome microarray analysis revealed a deletion at 9p21.3 encompassing <em>CDKN2A</em>/<em>CDKN2B</em> and several contiguous copy number aberrations at 9q34.12q34.2. Further long-read genomic sequencing uncovered cryptic <em>NUP214::ABL1</em> and <em>ABL1::TSC1</em> fusions, as well as a novel <em>VAPB::TRBV30</em> rearrangement from the t(7;20). RNA sequencing confirmed the transcripts for both <em>ABL1</em> fusions and a noncoding rearrangement involving the TCRB locus. Notably, the presence of <em>NUP214::ABL1</em> identified a clinically actionable target, supporting the use of tyrosine kinase inhibitors (TKIs) such as imatinib. This case underscores the critical role of integrated sequencing approaches in identifying cryptic genetic alterations in B-ALL for precise classification of oncogenic drivers and for targeted therapeutic strategies to improve patient outcomes.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"298 ","pages":"Pages 274-279"},"PeriodicalIF":2.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145514415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

First Middle East and North Africa report of an EPCAM–MSH2 deletion in two Iranian Lynch syndrome families: a case report 中东和北非首次报道了两个伊朗Lynch综合征家族的EPCAM-MSH2缺失：1例报告

IF 2.1 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics

Pub Date : 2025-11-01 DOI: 10.1016/j.cancergen.2025.11.010

Mohammad Sina , Keivan Majidzadeh-A , Shiva Zarinfam , Rosalba Monica Ferraro , Elena Laura Mazzoldi , Seyedeh Zahra Mousavi , Silvia Clara Giliani

Lynch syndrome is an inherited autosomal-dominant cancer-predisposition condition that results from germline defects in the DNA mismatch-repair (MMR) pathway or inactivation of the EPCAM gene. Variants involving EPCAM are detected in roughly 1–3 % of Lynch syndrome cases, whereas combined EPCAM–MSH2 deletions remain very uncommon. We investigated two Iranian families from the same village, each with multiple members affected by colorectal cancer (CRC), to identify the underlying genetic causes. In Family A, colon tumor immunohistochemistry showed loss of MSH2 and MSH6 expression in formalin-fixed paraffin-embedded tissue. Despite negative Sanger sequencing results for MSH2, whole-exome sequencing (WES) followed by copy number variant (CNV) analysis using CNVkit and ExomeDepth identified a large CNV across EPCAM and MSH2. Breakpoints were confirmed by MLPA and SYBR Green qPCR. A second family from the same village showed multi-generational CRC; Family B was therefore tested by MLPA/qPCR for the same CNV. We identified a heterozygous ∼76.7 kb deletion spanning EPCAM exons 1–9 and MSH2 exons 1–8. In Family A, 15/23 tested relatives were carriers; six carriers had CRC at 35–53 years, and no extracolonic tumors were observed. The CRC affected proband of Family B harbored the identical deletion. Cascade testing achieved remarkable uptake, with >20 relatives tested in family A—over tenfold higher than typical reports—facilitated by direct clinician contact and streamlined logistics such as convenient blood collection. This is the first documented EPCAM–MSH2 deletion reported from the Middle East and North Africa region (MENA).

Lynch综合征是一种遗传性常染色体显性癌症易感性疾病，由DNA错配修复（MMR）途径的种系缺陷或EPCAM基因失活引起。大约1 - 3%的Lynch综合征病例中检测到涉及EPCAM的变异，而EPCAM - msh2联合缺失仍然非常罕见。我们调查了来自同一村庄的两个伊朗家庭，每个家庭都有多名成员患有结直肠癌（CRC），以确定潜在的遗传原因。在A家族中，结肠肿瘤免疫组化显示在福尔马林固定石蜡包埋组织中MSH2和MSH6的表达缺失。尽管MSH2的Sanger测序结果为阴性，但使用CNVkit和ExomeDepth进行全外显子组测序（WES）和拷贝数变异（CNV）分析后，发现EPCAM和MSH2之间存在较大的拷贝数变异。采用MLPA和SYBR Green qPCR检测断点。同一村庄的第二个家庭表现出多代结直肠癌；因此，用MLPA/qPCR检测B家族相同的CNV。我们发现了一个杂合子- 76.7 kb的缺失，横跨EPCAM外显子1-9和MSH2外显子1-8。A家族有15/23的检测亲属为携带者；6名携带者在35-53岁时发生结直肠癌，未见结肠外肿瘤。B家族受结直肠癌影响的先证者也有相同的缺失。级联检测取得了显著成效，a家族有20名亲属接受检测，比典型报告高出10倍以上，这得益于直接与临床医生接触，以及便捷的采血等流程化的物流。这是中东和北非地区（MENA）首次报道的EPCAM-MSH2缺失。

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引用次数: 0

Corrigendum to “RNF121 Promotes the Proliferation, Migration, and Invasion of Non-Small-Cell lung cancer cell lines” [Cancer Genetics 298-299 (2025) 193-197] “RNF121促进非小细胞肺癌细胞系的增殖、迁移和侵袭”的勘误表[cancer Genetics 298-299(2025) 193-197]。

IF 2.1 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics

Pub Date : 2025-11-01 DOI: 10.1016/j.cancergen.2025.10.100

Jun Jiang , Xiaoshuai Chen , Xinjie Dong , Yanfang Wang , Jixuan Liu , Ting Liu , Xiaolei Bian , Ming Li , Yafang Liu

引用次数: 0

DNA quality challenges in breast cancer samples from three low-middle income African countries: a straightforward protocol for research in cancer genomics 来自三个中低收入非洲国家的乳腺癌样本的DNA质量挑战：癌症基因组学研究的简单方案

IF 2.1 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics

Pub Date : 2025-11-01 DOI: 10.1016/j.cancergen.2025.11.005

Mohamad Chkeir , Freddy Gnangnon , Patrice Dangbemey , Gilbert Fassinou , Sylvain Lacorre , Maeva Chaumet , Mahiné Ivanga , Rosa-Maria Fassinou , Romulus Takin , Sidonie Nguizi Ogoula , Arnaud Agbanlinsou , Lionel Forestier , Nathalie Duprat , Karine Durand , Alain Chaunavel , Pierre-Marie Preux , Tchin Darré , Edgard Brice Ngoungou , Dieu donné Gnonlonfoun , Simon Azonbakin , Alexis Parenté

Sub-Saharan African women often develop breast cancer at a younger age, with a high prevalence of aggressive subtypes such as triple-negative breast cancer and elevated mortality. Genetic factors may underlie these patterns, but African populations remain underrepresented in genomic research. As an initial step toward addressing this gap, we evaluated DNA extracted from formalin-fixed paraffin-embedded (FFPE) breast cancer blocks collected in anatomic pathology laboratories in Gabon, Togo, and Benin. Although DNA could be successfully extracted, its functional quality was significantly impaired. Quantitative PCR revealed progressive degradation, with poor amplification efficiency for larger fragments, and next-generation sequencing (NGS) libraries exhibited degraded electropherogram profiles, low coverage, and elevated duplication rates. These limitations likely stem from socio-economic constraints, including delayed processing and prolonged formalin fixation, which promote nucleic acid fragmentation and crosslinking. To overcome these barriers, we established a preservation protocol adapted to the resource and infrastructural limitations of the region: storage of biopsies in physiological saline at –20 °C. This method requires only basic equipment widely available in local hospitals, yet yielded DNA of high integrity, enabled efficient library construction, and produced significantly superior NGS performance compared with FFPE-derived DNA. This cost-effective and scalable approach provides a feasible solution for genomic research in resource-limited settings. Future efforts should focus on complementary strategies for RNA preservation and tumor enrichment to enable comprehensive molecular profiling and advance precision oncology in West Africa.

撒哈拉以南非洲妇女往往在较年轻时患上乳腺癌，三阴性乳腺癌等侵袭性亚型的发病率很高，死亡率也较高。遗传因素可能是这些模式的基础，但非洲人口在基因组研究中的代表性仍然不足。作为解决这一差距的第一步，我们评估了从加蓬、多哥和贝宁的解剖病理学实验室收集的福尔马林固定石蜡包埋（FFPE）乳腺癌块中提取的DNA。虽然可以成功提取DNA，但其功能质量明显受损。定量PCR显示逐渐降解，对较大片段的扩增效率较低，下一代测序（NGS）文库表现出降解的电泳图谱、低覆盖率和高重复率。这些限制可能源于社会经济限制，包括加工延迟和长时间的福尔马林固定，这会促进核酸断裂和交联。为了克服这些障碍，我们建立了一种适合该地区资源和基础设施限制的保存方案：在-20°C的生理盐水中保存活检组织。该方法只需要在当地医院广泛使用的基本设备，但却获得了高完整性的DNA，实现了高效的文库构建，并且与ffpe衍生的DNA相比，产生了显著优于NGS的性能。这种具有成本效益和可扩展的方法为资源有限的基因组研究提供了可行的解决方案。未来的努力应该集中在RNA保存和肿瘤富集的互补策略上，以实现全面的分子谱分析和推进西非的精确肿瘤学。

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引用次数: 0

The prevalence of TP53, APC, and PIK3CA gene mutations in colorectal cancer patients: A Systematic Review and Meta-analysis 结直肠癌患者中TP53、APC和PIK3CA基因突变的患病率：一项系统综述和荟萃分析

IF 2.1 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics

Pub Date : 2025-10-17 DOI: 10.1016/j.cancergen.2025.10.003

Mobina Gheibi , Sogand Sadeghi , Amirhossein Hessami , Zahra Erfani , Erfan Ghadirzadeh , Mahmood Moosazadeh

Background

Despite the significant role of genetic mutations in colorectal cancer (CRC), there is considerable variability in the reported prevalence of TP53, APC, and PIK3CA mutations across different populations and CRC subtypes. Thus, this systematic review and meta-analysis aimed to assess the prevalence of TP53, APC, and PIK3CA gene mutations in CRC patients.

Methods

A systematic search was done in Medline/PubMed, Scopus, Embase, Web of Science, and Google Scholar from their dates of inception until September 2024. Obsevational studies reported TP53, APC, and PIK3CA mutations in CRC patients were included. The quality of the evidence was assessed using the Joanna Briggs Institute (JBI) instrument. The prevalence of each mutated gene and its 95 % confidence interval (CI) were calculated using the random effects model.

Results

A total of 32 studies were included comprising 7765 participants with JBI scores ranging from 7 to 9. Our findings showed that TP53 mutations were the most prevalent, detected in 51 % (95 % CI: 41–60) of cases, with a significantly higher prevalence in M-CRC (81 %, 95 % CI: 76–85), followed by APC (33 %, 95 % CI: 13–52), and PIK3CA (19 %, 95 % CI: 10–28).

Conclusion

This meta-analysis showed the high prevalence of TP53, PIK3CA, and APC mutations among CRC patients, with TP53 mutations being the most common among these three genes.

尽管基因突变在结直肠癌（CRC）中发挥着重要作用，但在不同人群和CRC亚型中，TP53、APC和PIK3CA突变的患病率存在相当大的差异。因此，本系统综述和荟萃分析旨在评估TP53、APC和PIK3CA基因突变在结直肠癌患者中的患病率。方法系统检索Medline/PubMed、Scopus、Embase、Web of Science、谷歌Scholar等数据库，从其成立日期至2024年9月。观察性研究报告了CRC患者中的TP53、APC和PIK3CA突变。使用乔安娜布里格斯研究所（JBI）仪器评估证据的质量。使用随机效应模型计算每个突变基因的流行率及其95%置信区间（CI）。结果共纳入32项研究，包括7765名参与者，JBI评分在7 ~ 9分之间。我们的研究结果显示，TP53突变最为普遍，在51% （95% CI: 41-60）的病例中检测到，其中M-CRC的患病率明显更高（81%,95% CI: 76-85），其次是APC （33%, 95% CI: 13-52）和PIK3CA （19%, 95% CI: 10-28）。结论本meta分析显示，TP53、PIK3CA和APC基因在结直肠癌患者中具有较高的患病率，其中TP53基因的突变最为常见。

{"title":"The prevalence of TP53, APC, and PIK3CA gene mutations in colorectal cancer patients: A Systematic Review and Meta-analysis","authors":"Mobina Gheibi , Sogand Sadeghi , Amirhossein Hessami , Zahra Erfani , Erfan Ghadirzadeh , Mahmood Moosazadeh","doi":"10.1016/j.cancergen.2025.10.003","DOIUrl":"10.1016/j.cancergen.2025.10.003","url":null,"abstract":"<div><h3>Background</h3><div>Despite the significant role of genetic mutations in colorectal cancer (CRC), there is considerable variability in the reported prevalence of TP53, APC, and PIK3CA mutations across different populations and CRC subtypes. Thus, this systematic review and meta-analysis aimed to assess the prevalence of TP53, APC, and PIK3CA gene mutations in CRC patients.</div></div><div><h3>Methods</h3><div>A systematic search was done in Medline/PubMed, Scopus, Embase, Web of Science, and Google Scholar from their dates of inception until September 2024. Obsevational studies reported TP53, APC, and PIK3CA mutations in CRC patients were included. The quality of the evidence was assessed using the Joanna Briggs Institute (JBI) instrument. The prevalence of each mutated gene and its 95 % confidence interval (CI) were calculated using the random effects model.</div></div><div><h3>Results</h3><div>A total of 32 studies were included comprising 7765 participants with JBI scores ranging from 7 to 9. Our findings showed that TP53 mutations were the most prevalent, detected in 51 % (95 % CI: 41–60) of cases, with a significantly higher prevalence in M-CRC (81 %, 95 % CI: 76–85), followed by APC (33 %, 95 % CI: 13–52), and PIK3CA (19 %, 95 % CI: 10–28).</div></div><div><h3>Conclusion</h3><div>This meta-analysis showed the high prevalence of TP53, PIK3CA, and APC mutations among CRC patients, with TP53 mutations being the most common among these three genes.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"298 ","pages":"Pages 198-207"},"PeriodicalIF":2.1,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145362093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

RNF121 promotes the proliferation, migration, and invasion of lung cancer cell lines RNF121促进肺癌细胞系的增殖、迁移和侵袭。

IF 2.1 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics

Pub Date : 2025-10-09 DOI: 10.1016/j.cancergen.2025.10.002

Jun Jiang, Xiaoshuai Chen, Xinjie Dong, Yanfang Wang, Jixuan Liu, Ting Liu, Xiaolei Bian, Ming Li, Yafang Liu

Objectives

RING finger proteins are a large family of proteins within the human genome that play essential roles in the regulation of physiological processes and have been implicated in cancer progression. However, the relationships among RING Finger Protein 121 (RNF121), E3 ubiquitin ligase, and tumorigenesis have yet to be determined. In this study, we aimed to comprehensively elucidate the functions of RNF121 in non-small cell lung cancer (NSCLC).

Methods

On the basis of MTT, colony formation, and Transwell assays, we evaluated RNF121-specific functions that were found to be closely associated with clinicopathological features.

Results

RNF121 expression was demonstrated to be closely associated with different diseases. By altering the levels of this protein in the A549 and H1299 cell lines, we discovered that this protein promotes cell proliferation, migration, and invasion.

Conclusion

This study is the first to demonstrate that RNF121 plays a prominent role in driving NSCLC progression and that its expression is correlated with clinicopathological features. Accordingly, this gene would serve not only as a key prognostic indicator but also as a novel potential therapeutic target for the treatment of NSCLC.

目的：无名指蛋白是人类基因组中的一个大家族蛋白，在生理过程的调节中发挥重要作用，并与癌症进展有关。然而，RING Finger Protein 121 （RNF121）、E3泛素连接酶与肿瘤发生之间的关系尚不明确。在本研究中，我们旨在全面阐明RNF121在非小细胞肺癌（NSCLC）中的功能。方法：基于MTT、菌落形成和Transwell试验，我们评估了与临床病理特征密切相关的rnf121特异性功能。结果：RNF121的表达与不同疾病密切相关。通过改变A549和H1299细胞系中这种蛋白的水平，我们发现这种蛋白促进细胞增殖、迁移和侵袭。结论：本研究首次证实RNF121在推动NSCLC进展中发挥突出作用，其表达与临床病理特征相关。因此，该基因不仅可以作为关键的预后指标，而且可以作为治疗非小细胞肺癌的新的潜在治疗靶点。

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引用次数: 0