ArticleThe Journal of pathology2013
Mutations in Hedgehog pathway genes in fetal rhabdomyomas.
Article in The Journal of pathology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
16 citing papers in PubMed, 35 citations in OpenAlex.
- Canonical Hedgehog Pathway and Noncanonical GLI Transcription Factor Activation in Cancer.Cells · 2022Review
- S-100 Immunohistochemical Positivity in Rhabdomyoma: An Underestimated Potential Diagnostic Pitfall in Routine Practice.Diagnostics (Basel, Switzerland) · 2022Article
- Review
- Integrative clinical and biopathology analyses to understand the clinical heterogeneity of infantile rhabdomyosarcoma: A report from the French MMT committee.Cancer medicine · 2020Article
- Histiocyte-rich rhabdomyoblastic tumor: rhabdomyosarcoma, rhabdomyoma, or rhabdomyoblastic tumor of uncertain malignant potential? A histologically distinctive rhabdomyoblastic tumor in search of a place in the classification of skeletal muscle neoplasms.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2019Article
- Article
- Update from the 4th Edition of the World Health Organization of Head and Neck Tumours: Tumours of the Oral Cavity and Mobile Tongue.Head and neck pathology · 2017Article
- Recurrent MALAT1-GLI1 oncogenic fusion and GLI1 up-regulation define a subset of plexiform fibromyxoma.The Journal of pathology · 2016Article
- Mutations in TSC1, TSC2, and MTOR Are Associated with Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2016Article
- Hedgehog-driven myogenic tumors recapitulate skeletal muscle cellular heterogeneity.Experimental cell research · 2016Article
- Article
- Probing for a deeper understanding of rhabdomyosarcoma: insights from complementary model systems.Nature reviews. Cancer · 2015Review
- A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.Human molecular genetics · 2015Article
- Myogenic tumors in nevoid Basal cell carcinoma syndrome.Journal of pediatric hematology/oncology · 2015Article
- Distinct malignant behaviors of mouse myogenic tumors induced by different oncogenetic lesions.Frontiers in oncology · 2015Article
- Src mutation induces acquired lapatinib resistance in ERBB2-amplified human gastroesophageal adenocarcinoma models.PloS one · 2014Article
Corrections and comments
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Authors and funding
13 authors at 9 institutions in 1 country.
Funding
Abstract
Ligand-independent, constitutive activation of Hedgehog signalling in mice expressing a mutant, activated SmoM2 allele results in the development of multifocal, highly differentiated tumours that express myogenic markers (including desmin, actin, MyoD and myogenin). The histopathology of these tumours, commonly classified as rhabdomyosarcomas, more closely resembles human fetal rhabdomyoma (FRM), a benign tumour that can be difficult to distinguish from highly differentiated rhabdomyosarcomas. We evaluated the spectrum of Hedgehog (HH) pathway gene mutations in a cohort of human FRM tumours by targeted Illumina sequencing and fluorescence in situ hybridization testing for PTCH1. Our studies identified functionally relevant aberrations at the PTCH1 locus in three of five FRM tumours surveyed, including a PTCH1 frameshift mutation in one tumour and homozygous deletions of PTCH1 in two tumours. These data suggest that activated Hedgehog signalling contributes to the biology of human FRM.
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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.