Mutations in Hedgehog pathway genes in fetal rhabdomyomas.
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ABSTRACT:
SUBMITTER: Hettmer S
PROVIDER: S-EPMC3875333 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Publications
Mutations in Hedgehog pathway genes in fetal rhabdomyomas.
Hettmer Simone S Teot Lisa A LA van Hummelen Paul P MacConaill Laura L Bronson Roderick T RT Dall'Osso Claudia C Mao Junhao J McMahon Andrew P AP Gruber Peter J PJ Grier Holcombe E HE Rodriguez-Galindo Carlos C Fletcher Christopher D CD Wagers Amy J AJ
The Journal of pathology 20130901 1
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. W ...[more]
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