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Peer-reviewedCC BYFrontiers in Genetics

Exploratory mRNA and microRNA profiling identifies transcriptomic alterations in the PIK3CA-related overgrowth spectrum

  • Tadashi Shiohama1
  • Tadashi Shiohama2
  • Mami Uegami3
  • Yoshitaka Kubota4
  • Hirotomo Saitsu5
  • Mitsuhiro Kato6
  • Jun Matsushima7
  • Jun Matsushima8
  • Daisuke Sawada1
  • Shoko Yoshii1
  • Nobuyuki Mitsukawa4
  • Hiromichi Hamada1
8 affiliations
  1. 1Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan
  2. 2Department of Pediatrics, International University of Health and Welfare Narita Hospital, Narita, Japan
  3. 3Department of Neurology, Mayo Clinic, Rochester, MN, United States
  4. 4Department of Plastic, Reconstructive, and Aesthetic Surgery, Graduate School of Medicine, Chiba University, Chiba, Japan
  5. 5Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan
  6. 6Department of Pediatrics, Showa Medical University School of Medicine, Tokyo, Japan
  7. 7Department of Pathology, Graduate School of Medicine, Chiba University, Chiba, Japan
  8. 8Department of Pathology, Dokkyo Medical University Saitama Medical Center, Koshigaya, Japan
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Abstract

BackgroundPIK3CA-related overgrowth spectrum (PROS) is a group of disorders caused by somatic mosaic mutations in the PIK3CA gene, characterized by tissue overgrowth affecting multiple organs, including the skin, adipose tissue, blood vessels, bones, and nervous system. Although constitutive hyperactivation of PI3K-AKT-mTOR signaling in PROS promotes abnormal tissue development, remodeling, and segmental overgrowth, the downstream signaling networks are highly complex, and the precise molecular mechanisms underlying tissue overgrowth remain incompletely understood.MethodsIn this exploratory study, we investigated molecular alterations associated with overgrowth in PROS by profiling mRNA and microRNA expression in fibroblasts derived from affected skin (pv-Fibro) and unaffected skin (non-pv-Fibro) from the same patient. Additionally, fibroblasts from three healthy individuals were pooled and analyzed as a single control sample.ResultsWe identified 24,034 human mRNAs using microarray-based gene expression profiling. Ten mRNAs were selected as candidate lesion-associated upregulated genes in pv-Fibro (≥5-fold vs. nc-Fibro and <2-fold change in non-pv-Fibro vs. nc-Fibro). In contrast, three mRNAs were selected as candidate lesion-associated downregulated genes in pv-Fibro (≤0.2-fold vs. nc-Fibro and >0.5-fold in non-pv-Fibro vs. nc-Fibro). For miRNA profiling, 4,603 human microRNAs were analyzed. hsa-miR-146a-5p was markedly upregulated in pv-Fibro (≥5-fold vs. nc-Fibro and <2-fold change in non-pv-Fibro vs. nc-Fibro), while hsa-miR-146b-5p was markedly downregulated (≤0.2-fold vs. nc-Fibro and >0.5-fold in non-pv-Fibro vs. nc-Fibro).DiscussionThe observed changes in mRNA and miRNA expression represent candidate molecular alterations associated with inflammatory and tissue remodeling pathways in PROS pathology.

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Cite

BibTeXRIS
BibTeX
@article{shiohama2026exploratory,
  title = {{Exploratory mRNA and microRNA profiling identifies transcriptomic alterations in the PIK3CA-related overgrowth spectrum}},
  author = {Tadashi Shiohama and Tadashi Shiohama and Mami Uegami and Yoshitaka Kubota and Hirotomo Saitsu and Mitsuhiro Kato and Jun Matsushima and Jun Matsushima and Daisuke Sawada and Shoko Yoshii and Nobuyuki Mitsukawa and Hiromichi Hamada},
  journal = {Frontiers in Genetics},
  year = {2026},
  month = oct,
  doi = {10.3389/fgene.2026.1935186},
  url = {https://doi.org/10.3389/fgene.2026.1935186},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Exploratory mRNA and microRNA profiling identifies transcriptomic alterations in the PIK3CA-related overgrowth spectrum
AU  - Tadashi Shiohama
AU  - Tadashi Shiohama
AU  - Mami Uegami
AU  - Yoshitaka Kubota
AU  - Hirotomo Saitsu
AU  - Mitsuhiro Kato
AU  - Jun Matsushima
AU  - Jun Matsushima
AU  - Daisuke Sawada
AU  - Shoko Yoshii
AU  - Nobuyuki Mitsukawa
AU  - Hiromichi Hamada
PY  - 2026
DA  - 2026/10/23
JO  - Frontiers in Genetics
DO  - 10.3389/fgene.2026.1935186
UR  - https://doi.org/10.3389/fgene.2026.1935186
AB  - BackgroundPIK3CA-related overgrowth spectrum (PROS) is a group of disorders caused by somatic mosaic mutations in the PIK3CA gene, characterized by tissue overgrowth affecting multiple organs, including the skin, adipose tissue, blood vessels, bones, and nervous system. Although constitutive hyperactivation of PI3K-AKT-mTOR signaling in PROS promotes abnormal tissue development, remodeling, and segmental overgrowth, the downstream signaling networks are highly complex, and the precise molecular mechanisms underlying tissue overgrowth remain incompletely understood.MethodsIn this exploratory study, we investigated molecular alterations associated with overgrowth in PROS by profiling mRNA and microRNA expression in fibroblasts derived from affected skin (pv-Fibro) and unaffected skin (non-pv-Fibro) from the same patient. Additionally, fibroblasts from three healthy individuals were pooled and analyzed as a single control sample.ResultsWe identified 24,034 human mRNAs using microarray-based gene expression profiling. Ten mRNAs were selected as candidate lesion-associated upregulated genes in pv-Fibro (≥5-fold vs. nc-Fibro and <2-fold change in non-pv-Fibro vs. nc-Fibro). In contrast, three mRNAs were selected as candidate lesion-associated downregulated genes in pv-Fibro (≤0.2-fold vs. nc-Fibro and >0.5-fold in non-pv-Fibro vs. nc-Fibro). For miRNA profiling, 4,603 human microRNAs were analyzed. hsa-miR-146a-5p was markedly upregulated in pv-Fibro (≥5-fold vs. nc-Fibro and <2-fold change in non-pv-Fibro vs. nc-Fibro), while hsa-miR-146b-5p was markedly downregulated (≤0.2-fold vs. nc-Fibro and >0.5-fold in non-pv-Fibro vs. nc-Fibro).DiscussionThe observed changes in mRNA and miRNA expression represent candidate molecular alterations associated with inflammatory and tissue remodeling pathways in PROS pathology.
SN  - 1664-8021
ER  -