Perianal rhabdomyosarcoma presenting 21 months after hamartoma excision

Piché, Nelson; Patey, Nathalie; Soglio, Dorothée Dal; Samson, Yvan; Bouchard, Sarah

doi:10.1007/s00383-012-3074-x

Cited by 1 publication

(1 citation statement)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…22 The relationship of RMH with RMS is not well delineated. At least one case has been documented of a patient with a perianal hamartomatous skeletal muscle lesion that subsequently developed RMS in the same location, 39 emphasizing the need for caution when examining these lesions.…”

Section: Discussionmentioning

confidence: 99%

Pediatric Benign Tumors With a Skeletal Muscle Component: Myogenin Expression, Diagnostic Pitfalls, and New Molecular Insights

et al. 2021

View full text Add to dashboard Cite

Objectives Benign tumors with skeletal muscle differentiation are rare and their characterization in the literature is limited. We present a series of twelve pediatric benign tumors with rhabdomyomatous differentiation including seven rhabdomyomatous mesenchymal hamartomas, four fetal rhabdomyomas, and one benign triton tumor, analyzing myogenic markers as well as clinicopathologic and molecular features. A review of the literature was also performed with an emphasis on myogenic marker expression and correlation with molecular features. Methods and Results Cases obtained from three tertiary pediatric hospitals were retrospectively reviewed. Eleven of twelve cases expressed myogenin in rare to greater than 15% of cells. Five of nine cases had rare to 70–80% of cells positive for MyoD1. One fetal rhabdomyoma demonstrated homozygous deletions in ZEB2. The benign triton tumor harbored a CTNNB1 mutation. Review of the literature identified 160 pediatric benign tumors with skeletal muscle differentiation of which 9 reported myogenin positivity. Conclusions Myogenin and MyoD1 may be variably expressed in benign lesions with skeletal muscle differentiation. Recognition of key morphologic features remains critical to diagnose these lesions and, in rhabdomyoma, to exclude malignancy. Our series expands the knowledge of the relationship between rhabdomyoma and rhabdomyosarcoma (RMS) by identifying a shared molecular alteration in ZEB2.

show abstract

Section: Discussionmentioning

confidence: 99%