Evidence map›Paper›PMID 40258890›Full record

ArticleScientific reports2025

Tumor associated chromosomal instability drives colorectal adenoma to adenocarcinoma progression based on 17 year follow up evidence.

Hui Li, Fang Yang, Bingjun Bai, Zhinong Jiang, Bing Li, Guoxiang Fu, Xiaotong Hu

Abstract read
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Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Hui Li *Department of Pathology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, 310016, Zhejiang, China.
Fang Yang *Department of Pathology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, 310016, Zhejiang, China.
Bingjun BaiDepartment of Colorectal Surgery, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, 310016, Zhejiang, China.
Zhinong JiangDepartment of Pathology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, 310016, Zhejiang, China.
Bing LiData & Science, Burning Rock Biotech, Guangzhou, 510300, Guangdong, China.
Guoxiang FuDepartment of Pathology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, 310016, Zhejiang, China. fgx8228@163.com.
Xiaotong HuDepartment of Pathology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, 310016, Zhejiang, China. hxt_hz@zju.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Colorectal cancer (CRC) is a leading cause of cancer-related deaths globally. Adenomas, precursors to CRC, can be diagnosed early, but the genetic events leading to adenoma-adenocarcinoma conversion remain unclear. This study explored the role of chromosomal instabilities (CINs) in this conversion. Over a 17-year follow-up period, 119 adenomas were analyzed using low-coverage whole-genome sequencing (LC-WGS) and Ultrasensitive Chromosomal Aneuploidy Detector. Risk factors for adenocarcinoma development were identified through logistic regression analysis, and survival was assessed using Kaplan-Meier curves. CIN was found in 32% of adenomas, with a higher incidence in high-grade adenomas (P = 0.0359). Common chromosomal changes included loss of 18q, 1p, and 17p and gain of 8q (MYC), 20q, and 7p (EGFR). During the 17-year follow-up, 88 patients experienced recurrence, including 40 cases of adenomas and 48 cases of progression to adenocarcinoma. CIN was identified in 40% of progression cases, 33.6% of adenoma recurrence cases, and 26% of nonrecurrent cases. A strong genetic linkage was observed before and after tumor transformation, with a high match between the tumors and matched prior adenomas. CIN was significantly associated with disease progression (HR: 2.5, 95% CI: 1.4-4.5, P = 0.00162) and was an independent risk factor. Additionally, MFN2 gene copy number deletion was linked to recurrence and/or progression after resection, with reduced expression in tumor tissues. In conclusion, CIN is a key risk factor for adenoma recurrence and progression, and MFN2 gene copy number deletion is associated with adverse outcomes, providing insights for more accurate clinical prognostication of adenoma-to-adenocarcinoma transformation.

Indexed as

AdenocarcinomaAdenomaChromosomal InstabilityColorectal NeoplasmsAdultAgedDisease ProgressionFemaleFollow-Up StudiesHumansMaleMiddle AgedRisk FactorsWhole Genome SequencingAdenocarcinomaAdenomaChromosomal instabilitiesColorectal cancerMFN2

Identifiers

PMID40258890
PMCPMC12012205

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