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Updated: Sep 9, 2025

Author Spotlight: Unlocking the Mysteries of Oral Potential Malignancies

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Lipofibromatosis Revisited.

Yuki Shinohara¹, Jun Nishio², Shizuhide Nakayama³

¹Section of Orthopaedic Surgery, Department of Medicine, Fukuoka Dental College, Fukuoka, Japan.

In Vivo (Athens, Greece)

|August 28, 2025

Summary

This summary is machine-generated.

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.

Keywords:

CD34 Lipofibromatosis NTRK S-100 protein lipofibromatosis-like neural tumor review

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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.