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Lipofibromatosis Revisited
Yuki Shinohara1, Jun Nishio2, Shizuhide Nakayama3
1Section of Orthopaedic Surgery, Department of Medicine, Fukuoka Dental College, Fukuoka, Japan.
Abstract:
Lipofibromatosis (LPF) is a locally aggressive but non-metastasizing mesenchymal tumor that primarily occurs in the hands and feet of infants and young children. It typically presents as a slow-growing, painless, poorly demarcated subcutaneous mass. Magnetic resonance imaging reveals the lesion to be a poorly defined mass with a mixture of adipose and fibrous components. Variable enhancement is seen after intravenous contrast administration. Histologically, LPF displays a distinctive admixture of mature adipose tissue and short fascicles of bland spindle cells. By immunohistochemistry, the spindle cells are moderately or diffusely positive for CD34 and CD99, focally positive for smooth muscle actin but typically negative for S-100 protein, desmin, β-catenin and pan-tropomyosin receptor kinase (TRK). Recent molecular studies have shown a variety of fusions involving epidermal growth factor receptor (EGFR) ligands or EGFR itself or other receptor tyrosine kinases, suggesting a shared deregulation of the phosphatidylinositol 3-kinase (PI3K)/AKT/mammalian target of the rapamycin (mTOR) pathway. Complete surgical excision with preservation of adjacent neurovascular structures is the treatment of choice for LPF. This review provides an updated overview of the clinical, radiological, histological, immunohistochemical, cytogenetic and molecular genetic features of LPF and discusses the relationship to LPF-like neural tumor.
Insights
Lipofibromatosis (LPF) is a rare pediatric mesenchymal tumor of the extremities. This review details its clinical, imaging, and molecular features, highlighting phosphatidylinositol 3-kinase (PI3K)/AKT/mammalian target of the rapamycin (mTOR) pathway deregulation.
Area of Science:
- Oncology
- Pediatric Pathology
- Molecular Genetics
Background:
- Lipofibromatosis (LPF) is a locally aggressive, non-metastasizing mesenchymal tumor predominantly affecting infants and children.
- It typically manifests as a slow-growing, painless subcutaneous mass on the hands and feet.
Purpose of the Study:
- To provide an updated overview of Lipofibromatosis (LPF).
- To discuss the clinical, radiological, histological, immunohistochemical, cytogenetic, and molecular genetic characteristics of LPF.
- To explore the relationship between LPF and LPF-like neural tumors.
Main Methods:
- Review of clinical, radiological, histological, and immunohistochemical findings.
- Analysis of recent molecular genetic studies, including receptor tyrosine kinase fusions.
- Discussion of cytogenetic data and pathway analysis (PI3K/AKT/mTOR).
Main Results:
- LPF presents as a poorly defined mass with mixed adipose and fibrous components on MRI.
- Histology shows mature adipose tissue and bland spindle cells positive for CD34 and CD99.
- Molecular studies indicate fusions involving EGFR or other receptor tyrosine kinases, implicating PI3K/AKT/mTOR pathway deregulation.
Conclusions:
- Complete surgical excision is the primary treatment for LPF, emphasizing neurovascular structure preservation.
- Understanding LPF's molecular underpinnings is crucial for diagnosis and potential targeted therapies.
- Further research is needed to clarify the relationship between LPF and similar neural tumors.
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