Genomic alterations in oral multiple primary cancers

Oral squamous cell carcinoma (OSCC) is the predominant type of oral cancer, while some patients may develop oral multiple primary cancers (MPCs) with unclear etiology. This study aimed to investigate the clinicopathological characteristics and genomic alterations of oral MPCs. Clinicopathological da...

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Bibliographic Details
Published in:International journal of oral science 2024-02, Vol.16 (1), p.13-13, Article 13
Main Authors: Zhou, Xuan, Cai, Xinjia, Jing, Fengyang, Li, Xuefen, Zhang, Jianyun, Zhang, Heyu, Li, Tiejun
Format: Article
Language:English
Subjects:
631/208/68
631/67/1536/1665/3016
Copy number
Dentistry
Genomics
Lymph nodes
Lymphatic system
Medicine
Metastases
Metastasis
Mutation
Oral and Maxillofacial Surgery
Oral carcinoma
Oral squamous cell carcinoma
Orthopedics
p53 Protein
Phylogeny
Surgical Orthopedics
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Summary:Oral squamous cell carcinoma (OSCC) is the predominant type of oral cancer, while some patients may develop oral multiple primary cancers (MPCs) with unclear etiology. This study aimed to investigate the clinicopathological characteristics and genomic alterations of oral MPCs. Clinicopathological data from patients with oral single primary carcinoma (SPC, n  = 202) and oral MPCs ( n  = 34) were collected and compared. Copy number alteration (CNA) analysis was conducted to identify chromosomal-instability differences among oral MPCs, recurrent OSCC cases, and OSCC patients with lymph node metastasis. Whole-exome sequencing was employed to identify potential unique gene mutations in oral MPCs patients. Additionally, CNA and phylogenetic tree analyses were used to gain preliminary insights into the molecular characteristics of different primary tumors within individual patients. Our findings revealed that, in contrast to oral SPC, females predominated the oral MPCs (70.59%), while smoking and alcohol use were not frequent in MPCs. Moreover, long-term survival outcomes were poorer in oral MPCs. From a CNA perspective, no significant differences were observed between oral MPCs patients and those with recurrence and lymph node metastasis. In addition to commonly mutated genes such as CASP8 , TP53 and MUC16 , in oral MPCs we also detected relatively rare mutations, such as HS3ST6 and RFPL4A . Furthermore, this study also demonstrated that most MPCs patients exhibited similarities in certain genomic regions within individuals, and distinct differences of the similarity degree were observed between synchronous and metachronous oral MPCs.
ISSN:2049-3169
1674-2818
2049-3169
DOI:10.1038/s41368-023-00265-w