ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2020
PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 45 citations in OpenAlex.
- Ultra-deep targeted next-generation sequencing with peripheral blood in patients with vascular malformations: a cohort of 40 patients.Molecular biology reports · 2025Article
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- Lipomatosis of nerve and osseous nerve territory overgrowth patterns affecting knee: illustrative cases.Journal of neurosurgery. Case lessons · 2025Article
- Nerve Grafts in Breast Reconstruction: A Narrative Review.The breast journal · 2025Review
- Test yourself: chest wall asymmetry.Skeletal radiology · 2024Article
- Clinical characteristics and surgical management of facial infiltrating lipomatosis: a single center experience.Head & face medicine · 2024Review
- Unrecognized sciatic lipomatosis of the nerve diagnosed by telehealth: illustrative case.Journal of neurosurgery. Case lessons · 2024Article
- Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors.Orphanet journal of rare diseases · 2023Article
- PIK3CA mutation testing as a valuable molecular surrogate for lipomatosis of the median nerve: clinicopathological and molecular analysis of six cases.Virchows Archiv : an international journal of pathology · 2023Article
- Occult lipomatosis of the nerve as part of macrodystrophia lipomatosa: illustrative case.Journal of neurosurgery. Case lessons · 2023Article
- When, where and which PIK3CA mutations are pathogenic in congenital disorders.Nature cardiovascular research · 2022Review
- Brachial plexus lipomatosis with perineurial pseudoonion bulb formation: Result of a mosaic PIK3CA mutation in the para-axial mesoderm state.Brain pathology (Zurich, Switzerland) · 2022Article
- Update of Pediatric Lipomatous Lesions: A Clinicopathological, Immunohistochemical and Molecular Overview.Journal of clinical medicine · 2022Review
- Circ-ZEB1 promotes PIK3CA expression by silencing miR-199a-3p and affects the proliferation and apoptosis of hepatocellular carcinoma.Molecular cancer · 2022Article
- PIK3CA hotspot mutations p. H1047R and p. H1047L sensitize breast cancer cells to thymoquinone treatment by regulating the PI3K/Akt1 pathway.Molecular biology reports · 2022Article
- Article
- A Case of Cervical Intraneural Lipoma That Was Removed by Intercapsular Resection with No Resultant Postoperative Neurological Deficit.Case reports in otolaryngology · 2022Article
- An Analysis of the Pathogenic Genes and Mutation Sites of Macrodactyly.Pharmacogenomics and personalized medicine · 2022Article
- Etiology of Carpal Tunnel Syndrome in a Large Cohort of Children.Children (Basel, Switzerland) · 2021Article
- Intrinsic peripheral nerve and root tumor and pseudotumoral lesions at a tertiary care pediatric hospital.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
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Authors and funding
7 authors at 2 institutions in 1 country.
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Abstract
Lipomatosis of nerve is a rare malformation characterized by a fibrolipomatous proliferation within peripheral nerve. Lipomatosis of nerve most frequently involves the median nerve, and manifests clinically as a compressive neuropathy. However, 30-60% of cases are associated with tissue overgrowth within the affected nerve's territory (e.g., macrodactyly for lipomatosis of nerve in the distal median nerve). Somatic activating PIK3CA mutations have been identified in peripheral nerve from patients with lipomatosis of nerve with type I macrodactyly, which is now classified as a PIK3CA-related overgrowth spectrum disorder. However, the PIK3CA mutation status of histologically confirmed lipomatosis of nerve, including cases involving proximal nerves, and cases without territory overgrowth, has not been determined. Fourteen histologically confirmed cases of lipomatosis of nerve involving the median (N = 6), brachial plexus (N = 1), ulnar (N = 3), plantar (N = 2), sciatic and superficial peroneal nerves (N = 1 each) were included. Ten cases had nerve territory overgrowth, ranging from macrodactyly to hemihypertrophy; and four cases had no territory overgrowth. Exome sequencing revealed "hotspot" activating PIK3CA missense mutations in 6/7 cases. Droplet digital polymerase chain reaction for the five most common PIK3CA mutations (p.H1047R, p.H1047L, p.E545K, p.E542K, and p.C420R) confirmed the exome results and identified an additional six cases with mutations (12/14 total). PIK3CA mutations were found in 8/10 cases with territory overgrowth (N = 7 p.H1047R and N = 1 p.E545K), including two proximal nerve cases with extremity overgrowth, and 4/4 cases without territory overgrowth (p.H1047R and p.H1047L, N = 2 each). The variant allele frequency of PIK3CA mutations (6-32%) did not correlate with the overgrowth phenotype. Three intraneural lipomas had no detected PIK3CA mutations. As PIK3CA mutations are frequent events in lipomatosis of nerve, irrespective of anatomic site or territory overgrowth, we propose that all phenotypic variants of this entity be classified within the PIK3CA-related overgrowth spectrum and termed "PIK3CA-related lipomatosis of nerve".
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