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Precision molecular diagnostics of oral and maxillofacial tumors

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Through multidisciplinary collaboration, we aim to establish high-level research teams and platforms that closely integrate basic research with clinical practice. Focusing on large-scale samples of oral and maxillofacial tumors (including jawbone tumors and tumor-like lesions, oral cancers and precancerous lesions, as well as salivary gland tumors), this initiative combines single-cell multi-omics analysis technology with morphological histology. By employing microdissection for multi-point precision sampling, we will enable multi-omics analysis of morphologically characterized small-bulk-cell specimens. Leveraging advanced technologies such as biomedical big data and artificial intelligence, our systematic research program will target: 1) Molecular pathogenesis and precision intervention of jawbone tumors and tumor-like lesions; 2) Novel molecular classification and heterogeneity of salivary gland tumors; 3) Early diagnostic and prognostic biomarkers for oral potentially malignant disorders; 4) Molecular stratification and dynamic risk-prediction algorithms; 5) Tumor heterogeneity and AI-assisted diagnosis in oral cancers. This comprehensive approach seeks to address critical challenges in precise pathological diagnosis within the field of oral and maxillofacial tumor management.

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Figure 1. Diagram of team research focus



DIRECTOR

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Tiejun Li

Professor

Principal Investigator

Litiejun22@vip.sina.com

Dr Li Tie-Jun, a professor in oral pathology, Peking University School of Stomatology. He graduated from Wuhan University School of Stomatology (China) in 1984, and later obtained his PhD in the University of Birmingham Dental School (UK) in 1995. He then worked as a postdoctoral fellow in Kagoshima University Dental School (Japan) during 1995-1998. He has a long-standing research interest in the growth and behavior of odontogenic lesions of the jaws. He has won a number of academic awards throughout his career and has also been the recipient of numerous research grants from various resources. Most notably, he has been awarded National Science Fund for Distinguished Young Scholars in 2006 by the Chinese National Natural Science Foundation. To date, he has published over 100 scientific papers and has also been the editor to 7 monographs and major contributor to 9 other books.



RESEARCH AREAS

Completed genetic testing and genetic background analysis of PTCH1 gene in the largest group of odontogenic keratocysts and Gorlin syndrome pedigrees in the literature to date — revealing the molecular pathogenesis of the disease and proposing novel insights for molecular targeted therapies.

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Figure2. (Left) The study on PTCH1 mutation detection and genetic background analysis in OKC in the largest group reported in the literature; (Right) Invited to contribute a review article on OKC for the Journal of Dental Research (JDR).

To explore novel precise molecular diagnostic methods based on microscopic morphology- related gene copy number variation (CNV) analysis techniques for oral cancer, precancerous lesions, salivary gland tumors, and fibro-osseous lesions of the jaws.

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Figure 3. Copy number variation (CNV) analysis of oral leukoplakia with or without dysplasia.

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Figure4. Clonal evolution pattern of malignant transformation in pleomorphic adenoma revealed by CNV analysis.

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Figure 5. The unique pattern of CNV in ossifying fibroma of the jaws.



RECENT PUBLICATIONS

Copy Number Alterations Predict Development of OSCC from Oral Leukoplakia

Journal of dental research, 2024.02 (William J. Gies Award of 2024)

Unraveling the key role of chromatin structure in cancer development through epigenetic landscape characterization of oral cancer

Molecular cancer, 2024.06

Histologically resolved multiomics enables precise molecular profiling of human intratumor heterogeneity

PLoS biology, 2022.07

Multi-omics reveals lactylation-driven regulatory mechanisms promoting tumor progression in oral squamous cell carcinoma

Genome biology, 2024.10

Identification of genomic alteration and prognosis using pathomics-based artificial intelligence in oral leukoplakia and head and neck squamous cell carcinoma: a multicenter experimental study

International journal of surgery, 2025.01

Digital pathology-based artificial intelligence models for differential diagnosis and prognosis of sporadic odontogenic keratocysts

International journal of oral science, 2024.02

Genomic alterations in oral multiple primary cancers

International journal of oral science, 2024.02

Copy number alteration profiling facilitates differential diagnosis between ossifying fibroma and fibrous dysplasia of the jaws

International journal of oral science, 2021.06

Effect of the sonic hedgehog inhibitor GDC-0449 on an in vitro isogenic cellular model simulating odontogenic keratocysts

International journal of oral science, 2019.01

The odontogenic keratocyst: a cyst, or a cystic neoplasm?

Journal of dental research,2011.02

Heterozygous PTCH1 Mutations Impact the Bone Metabolism in Patients With Nevoid Basal Cell Carcinoma Syndrome Likely by Regulating SPARC Expression

Journal of bone and mineral research, 2016.07

Fibroblasts regulate variable aggressiveness of syndromic keratocystic and non-syndromic odontogenic tumors

Journal of dental research, 2014.09

GNAS mutational analysis in differentiating fibrous dysplasia and ossifying fibroma of the jaw

Modern pathology, 2013.08

Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis

Clinical cancer research, 2010.01

Unlocking the multifaceted molecular functions and diverse disease implications of lactylation

Biological reviews of the Cambridge Philosophical Society, 2025.02

Are Ameloblastic Fibroma-related Lesions True Tumors?: Evidence Through CNA and BRAF Mutation Analysis

American journal of surgical pathology, 2024.10

PON3::LCN1 and HTN3::MSANTD3 Gene Fusions With NR4A3/NR4A2 Expression in Salivary Acinic Cell Carcinoma

American journal of surgical pathology, 2024.06

Adenoid Ameloblastoma Shares Clinicopathologic, Immunohistochemical, and Molecular Features With Dentinogenic Ghost Cell Tumor: A Comparative Analysis

American journal of surgical pathology, 2023.11

Improvement in the risk assessment of oral leukoplakia through morphology-related copy number analysis. Science China

Life sciences, 2021.09



TEAM

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Jianyun Zhang

Associate professor

jianyunz0509@aliyun.com


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Lisha Sun

Associate Researcher

lisa_sun@bjmu.edu.cn


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Heyu Zhang

Associate Researcher

zhangheyu1983@sina.cn


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Xinjia Cai

Assistant Researcher

caixinjia1994@163.com



CONTACT

Tiejun Li

Litiejun22@vip.sina.com

Peking University School and Hospital of Stomatology,

No.22 Zhongguancun South Avenue,

Haidian District, Beijing 100081, PR China

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