Pediatric Benign Tumors With a Skeletal Muscle Component: Myogenin Expression, Diagnostic Pitfalls, and New Molecular Insights
| Autor: | John A Ozolek, Vittoria Donofrio, Larry Wang, Luisa Santoro, Rita Alaggio, Lara Berklite, Ivy John, Alessandra Stracuzzi |
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| Rok vydání: | 2021 |
| Předmět: |
Male
Pathology medicine.medical_specialty Rhabdomyoma Pathology and Forensic Medicine Diagnosis Differential Neoplasms Muscle Tissue 03 medical and health sciences 0302 clinical medicine Biomarkers Tumor medicine Humans Child Rhabdomyosarcoma Myogenin business.industry Benign Triton tumor Skeletal muscle component Infant Skeletal muscle General Medicine medicine.disease Rhabdomyomatous mesenchymal hamartoma medicine.anatomical_structure Child Preschool 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Female business 030217 neurology & neurosurgery |
| Zdroj: | Pediatric and Developmental Pathology. 24:213-226 |
| ISSN: | 1615-5742 1093-5266 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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