Nodular Fasciitis With Malignant Morphology and a COL6A2–USP6 Fusion: A Case Report (of a 10-Year-old Boy):
作者： Franck Tirode , Jakob Anninga , Christian Koelsche , Uta Flucke , Marie Karanian
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摘要: Nodular fasciitis is usually a benign lesion genetically characterized by ubiquitin-specific protease 6 (USP6) rearrangements. We present case of 10-year-old boy with 1.5-week history painless mass on the right chest wall, which was excised. A histomorphologically malignant tumor pronounced pleomorphism, atypical mitotic figures, and myoid immunophenotype observed. The methylation profile consistent nodular fluorescence in situ hybridization confirmed USP6 rearrangement. Using Archer Fusion Plex (Sarcoma Panel) RNA sequencing, collagen, type VI, alpha 2 (COL6A2)-USP6 gene fusion subsequently identified. Furthermore, DNA clustering analysis also showed match fasciitis. During follow-up 22 months, no recurrence or metastasis occurred. In conclusion, we describe clinically benign, mesenchymal neoplasm immunophenotype, genetic epigenetic such cases, molecular useful adjunct to avoid unnecessary overtreatment.
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