Evidence map›Paper›PMID 39548512›Full record

ArticleDiagnostic pathology2024

Detection of genetic mutations in 855 cases of papillary thyroid carcinoma by next generation sequencing and its clinicopathological features.

Dongliang Shi, Meihong Yao, Dan Wu, Meichen Jiang, Junkang Li, Yuhui Zheng, Yinghong Yang

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Article in Diagnostic pathology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

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4citing papers in PubMed
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4 citing papers in PubMed.

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7 authors.

Dongliang ShiDepartment of Pathology, Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian, China.
Meihong YaoDepartment of Pathology, Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian, China.
Dan WuDepartment of Pathology, Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian, China.
Meichen JiangDepartment of Pathology, Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian, China.
Junkang LiDepartment of Pathology, Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian, China.
Yuhui ZhengDepartment of Pathology, Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian, China. 915805889@qq.com.
Yinghong YangDepartment of Pathology, Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian, China. 3613859334@qq.com.

Funding

Key Discipline Project of Fujian Medical University Union Hospital Department of Pathology
6 · The paper itself

Abstract

objectiveTo investigate the genetic mutations in patients with papillary thyroid carcinoma (PTC) and their clinicopathological features by next generation sequencing (NGS).

methodsNGS technology was used to detect genetic mutations in PTC patients, and clinicopathological features were collected.

results①Among 855 PTC patients, 810 patients had genetic mutations, and 45 patients had no genetic mutation. ②BRAF mutation was associated with tumor diameter (P < 0.001) and histological subtypes (P = 0.002). The abundance of V600E mutation was associated with gender (P = 0.004), tumor diameter (P < 0.001), bilateral presentation (P = 0.001), extrathyroidal extension (P < 0.001), lymphatic metastasis (P < 0.001), histological subtypes (P = 0.002) and TNM staging (P = 0.000); The different mutation abundance of V600E was associated with tumor diameter (P < 0.001), multifocal presentation (P = 0.047), bilateral presentation (P = 0.001), extrathyroidal extension (P = 0.001), lymphatic metastasis (P < 0.001), histological subtypes (P = 0.022) and TNM staging (P = 0.000). ③RET fusion was associated with tumor diameter (P < 0.001) and lymphatic metastasis (P = 0.005). ④TERT mutation was associated with gender (P = 0.043), tumor diameter (P < 0.001), extrathyroidal extension (P = 0.028) and TNM staging (P = 0.017). ⑤RAS mutation was associated with histological subtypes (P < 0.001). ⑥NTRK and PIK3CA mutations were not associated with clinicopathological features.

conclusionNGS technology can comprehensively analyze the genetic mutations in PTC patients, which provides important prompts for the occurrence, development, diagnosis and treatment of PTC. In addition, BRAF V600E mutation, RET fusion and TERT mutation are associated with a number of high-risk clinicopathological features. Detection of genetic mutations in PTC patients by NGS is of great significance.

Indexed as

High-Throughput Nucleotide SequencingMutationProto-Oncogene Proteins B-rafThyroid Cancer, PapillaryThyroid NeoplasmsAdolescentAdultAgedBiomarkers, TumorChildDNA Mutational AnalysisFemaleHumansLymphatic MetastasisMaleMiddle AgedBiomarkers, TumorBRAF protein, humanProto-Oncogene Proteins B-rafBRAFNext generation sequencingPapillary thyroid carcinomaRASRETTERT

Identifiers

PMID39548512
PMCPMC11566394

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