Open Access

A multi‑omics study of diagnostic markers and the unique inflammatory tumor micro‑environment involved in tuberous sclerosis complex‑related renal angiomyolipoma

  • Authors:
    • Zhan Wang
    • Xiaoyan Liu
    • Wenda Wang
    • Jing Wei
    • Samuel Seery
    • Jiyu Xu
    • Haidan Sun
    • Yuncui Yu
    • Yang Zhao
    • Xu Wang
    • Zhangcheng Liao
    • Yanan Li
    • Wei Sun
    • Lulu Jia
    • Yushi Zhang
  • View Affiliations

  • Published online on: September 15, 2022     https://doi.org/10.3892/ijo.2022.5422
  • Article Number: 132
  • Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Tuberous sclerosis complex (TSC) is a rare disease that threatens multiple organs in the human body. TSC‑associated renal angiomyolipoma (TSC‑RAML) has potentially life‑threatening complications and a generally poor prognosis. The present study aimed to find plasma proteomic diagnostics and disease‑associated markers, and explore the tumor microenvironment using multi‑omics. To achieve this goal, the plasma proteomics as well as tissue proteomics, bulk and single‑cell RNA transcriptome from patients with TSC‑RAML were examined and analyzed. The results suggested that plasma proteins such as MMP9 and C‑C motif chemokine ligand 5 were able to differentiate TSC‑RAML from sporadic angiomyolipoma and renal cyst. A correlation analysis revealed that plasma proteomics were associated with lymphangioleiomyomatosis, TSC‑RAML grading and whole‑body disease burden. Tissue proteomics of participants with TSC‑RAML revealed disturbed small molecule catabolic process, mitochondrial matrix component and actin binding function. Bulk and single‑cell RNA sequencing suggested a greater number of tumor‑like cells, fibroblasts and mononuclear macrophages within the tumor microenvironment. The above results indicated that TSC‑RAML exhibited a characteristic and disease‑associated plasma proteomic profile. The unique microenvironment, made up of fibroblasts and mono‑macrophages, may promote tumorigenesis and TSC‑RAML progression.
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November-2022
Volume 61 Issue 5

Print ISSN: 1019-6439
Online ISSN:1791-2423

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Spandidos Publications style
Wang Z, Liu X, Wang W, Wei J, Seery S, Xu J, Sun H, Yu Y, Zhao Y, Wang X, Wang X, et al: A multi‑omics study of diagnostic markers and the unique inflammatory tumor micro‑environment involved in tuberous sclerosis complex‑related renal angiomyolipoma. Int J Oncol 61: 132, 2022
APA
Wang, Z., Liu, X., Wang, W., Wei, J., Seery, S., Xu, J. ... Zhang, Y. (2022). A multi‑omics study of diagnostic markers and the unique inflammatory tumor micro‑environment involved in tuberous sclerosis complex‑related renal angiomyolipoma. International Journal of Oncology, 61, 132. https://doi.org/10.3892/ijo.2022.5422
MLA
Wang, Z., Liu, X., Wang, W., Wei, J., Seery, S., Xu, J., Sun, H., Yu, Y., Zhao, Y., Wang, X., Liao, Z., Li, Y., Sun, W., Jia, L., Zhang, Y."A multi‑omics study of diagnostic markers and the unique inflammatory tumor micro‑environment involved in tuberous sclerosis complex‑related renal angiomyolipoma". International Journal of Oncology 61.5 (2022): 132.
Chicago
Wang, Z., Liu, X., Wang, W., Wei, J., Seery, S., Xu, J., Sun, H., Yu, Y., Zhao, Y., Wang, X., Liao, Z., Li, Y., Sun, W., Jia, L., Zhang, Y."A multi‑omics study of diagnostic markers and the unique inflammatory tumor micro‑environment involved in tuberous sclerosis complex‑related renal angiomyolipoma". International Journal of Oncology 61, no. 5 (2022): 132. https://doi.org/10.3892/ijo.2022.5422