ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2019
Aberrant receptor tyrosine kinase signaling in lipofibromatosis: a clinicopathological and molecular genetic study of 20 cases.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 71 citations in OpenAlex.
- Multicentric Calcifying Aponeurotic Fibroma of the Upper Extremity With Associated Nerve Compression and Bony Dysplasia.Journal of hand surgery global online · 2026Article
- Cutaneous soft tissue tumors in the 5th edition of the World Health Organization classification of skin tumors: key updates and new entities.Journal of pathology and translational medicine · 2026Article
- Diffuse lipofibromatosis with hand bone involvement: expanding the clinical spectrum: A case report and literature review.JPRAS open · 2026Review
- Protein kinase-related tumors in the pediatric population : Updated review on an emerging group with emphasis on the more rarely involved kinases.Pathologie (Heidelberg, Germany) · 2026Review
- Dermatomyofibromas harbor PDGFRB mutations - another tyrosine kinase-driven neoplasm.Virchows Archiv : an international journal of pathology · 2025Article
- Case Report: CD34-Negative, S100-Positive Spindle Cell Tumor With aCase reports in pathology · 2025Article
- What is new in fibroblastic/myofibroblastic tumors in children.Virchows Archiv : an international journal of pathology · 2025Review
- [Innovations in the classification of soft tissue tumors].Radiologie (Heidelberg, Germany) · 2024Article
- Superficial acral calcified chondroid mesenchymal neoplasm harboring an FN1::FGFR2 fusion and review of the literature.Journal of cutaneous pathology · 2024Review
- NTRK-rearranged spindle cell neoplasms are ubiquitous tumours of myofibroblastic lineage with a distinct methylation class.Histopathology · 2023Article
- Update of pediatric soft tissue tumors with review of conventional MRI appearance-part 1: tumor-like lesions, adipocytic tumors, fibroblastic and myofibroblastic tumors, and perivascular tumors.Skeletal radiology · 2022Review
- Giant dorsal lipofibromatosis in an infant: a case report.BMC pediatrics · 2022Article
- Case Report: Short-Term Response to First-Line Crizotinib Monotherapy in a Metastatic Lung Adenocarcinoma Patient Harboring a NovelFrontiers in oncology · 2022Article
- Update on Superficial Spindle Cell Mesenchymal Tumors in Children.Dermatopathology (Basel, Switzerland) · 2021Review
- Calcified chondroid mesenchymal neoplasms with FN1-receptor tyrosine kinase gene fusions including FGFR2, FGFR1, MERTK, NTRK1, and TEK: a molecular and clinicopathologic analysis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Soft tissue tumors characterized by a wide spectrum of kinase fusions share a lipofibromatosis-like neural tumor pattern.Genes, chromosomes & cancer · 2020Article
- Review
- Activity of the Highly Specific RET Inhibitor Selpercatinib (LOXO-292) in Pediatric Patients With Tumors HarboringJCO precision oncology · 2020Article
- What is new about the molecular genetics in matrix-producing soft tissue tumors? -The contributions to pathogenetic understanding and diagnostic classification.Virchows Archiv : an international journal of pathology · 2020Review
- Lipofibromatosis: A Rare Diagnosis on Fine Needle Aspiration Cytology.Turk patoloji dergisi · 2020Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lipofibromatosis is a rare pediatric soft tissue tumor with predilection for the hands and feet. Previously considered to represent "infantile fibromatosis", lipofibromatosis has distinctive morphological features, with mature adipose tissue, short fascicles of bland fibroblastic cells, and lipoblast-like cells. Very little is known about the genetic underpinnings of lipofibromatosis. Prompted by our finding of the FN1-EGF gene fusion, previously shown to be a characteristic feature of calcifying aponeurotic fibroma (CAF), in a morphologically typical case of lipofibromatosis that recurred showing features of CAF, we studied a cohort of 20 cases of lipofibromatosis for this and other genetic events. The cohort was composed of 14 males and 6 females (median age 3 years; range 1 month-14 years). All primary tumors showed classical lipofibromatosis morphology. Follow-up disclosed three local recurrences, two of which contained calcifying aponeurotic fibroma-like nodular calcifications in addition to areas of classic lipofibromatosis, and no metastases. By FISH and RNA sequencing, four cases were positive for FN1-EGF and one case each showed an EGR1-GRIA1, TPR-ROS1, SPARC-PDGFRB, FN1-TGFA, EGFR-BRAF, VCL-RET, or HBEGF-RBM27 fusion. FN1-EGF was the only recurrent fusion, suggesting that some cases of "lipofibromatosis" may represent calcifying aponeurotic fibroma lacking hallmark calcifications. Several of the genes involved in fusions (BRAF, EGFR, PDGFRB, RET, and ROS1) encode receptor tyrosine kinases (RTK), or ligands to the RTK EGFR (EGF, HBEGF, TGFA), suggesting a shared deregulation of the PI3K-AKT-mTOR pathway in a large subset of lipofibromatosis cases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.