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

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Abstract

Oral leukoplakia is the most common type of oral potentially malignant disorders and considered a precursor lesion to oral squamous cell carcinoma. However, a predictor of oral leukoplakia prognosis has not yet been identified. We investigated whether copy number alteration patterns may effectively predict the prognostic outcomes of oral leukoplakia using routinely processed paraffin sections. Comparison of copy number alteration patterns between oral leukoplakia with hyperplasia (HOL, n=22) and dysplasia (DOL, n=21) showed that oral leukoplakia with dysplasia had a higher copy number alteration rate (86%) than oral leukoplakia with hyperplasia (46%). Oral leukoplakia with dysplasia exhibited a wider range of genomic variations across all chromosomes compared with oral leukoplakia with hyperplasia. We also examined a retrospective cohort of 477 patients with oral leukoplakia with hyperplasia with detailed follow-up information. The malignant transformation (MT, n=19) and leukoplakia recurrence (LR, n=253) groups had higher frequencies of aneuploidy events and copy number loss rate than the free of disease (FD, n=205) group. Together, our results revealed the association between the degree of copy number alterations and the histological grade of oral leukoplakia and demonstrated that copy number alteration may be effective for prognosis prediction in oral leukoplakia patients with hyperplasia.

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Acknowledgements

This work was supported by the National Natural Science Foundation of China (81671006, 81300894, 22050002, 22050004) and Chinese Academy of Medical Sciences Innovation Fund for Medical Sciences (2019-I2M-5-038).

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Authors and Affiliations

  1. Department of Oral Pathology, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology & Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health & NMPA Key Laboratory for Dental Materials, Beijing, 100081, China

    Xiaotian Li, Jianyun Zhang, Ming Ma & Tiejun Li

  2. Beijing Advanced Innovation Center for Genomics (ICG), Biomedical Pioneering Innovation Center (BIOPIC), School of Life Sciences, Peking University, Beijing, 100871, China

    Lu Liu & Yanyi Huang

  3. School of Life Sciences and Beijing Advanced Innovation Center for Structural Biology, Tsinghua University, Beijing, 100084, China

    Jianbin Wang

  4. Central Laboratory, Peking University School and Hospital of Stomatology, Beijing, 100081, China

    Lisha Sun, Xuefen Li & Heyu Zhang

  5. Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions, Chinese Academy of Medical Sciences (2019RU034), Beijing, 100081, China

    Xiaotian Li, Jianyun Zhang, Ming Ma, Lisha Sun, Xuefen Li, Heyu Zhang & Tiejun Li

  6. College of Chemistry and Molecular Engineering and Beijing National Laboratory for Molecular Sciences, Peking University, Beijing, 100871, China

    Yanyi Huang

  7. Institute for Cell Analysis, Shenzhen Bay Laboratory, Shenzhen, 528107, China

    Yanyi Huang

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  1. Xiaotian Li
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Correspondence to Heyu Zhang, Jianbin Wang, Yanyi Huang or Tiejun Li.

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Compliance and ethics The author(s) declare that they have no conflict of interest. This research was approved by Institutional Review Board of Peking University Hospital of Stomatology, and written informed consent was obtained from all patients (approval NO. PKUSSIRB-201949116).

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Li, X., Liu, L., Zhang, J. et al. Improvement in the risk assessment of oral leukoplakia through morphology-related copy number analysis. Sci. China Life Sci. 64, 1379–1391 (2021). https://doi.org/10.1007/s11427-021-1965-x

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