Alveolárny sarkóm mäkkých tkanív u dieťaťa – opis prípadu

Česká verzia

Authors: V. Bartoš ¹; D. Sejnová ²; A. Skálová ^3,4; I. Béder ⁵
Authors place of work: Martinské bioptické centrum, s. r. o., Martin, Slovenská republika ¹; Klinika detskej hematológie a onkológie, Národný ústav detských chorôb, Bratislava, Slovenská republika ²; Šiklův patologický ústav LF v Plzni UK a FN Plzeň, Česká republika ³; Bioptická laboratoř s. r. o., Plzeň, Česká Republika ⁴; Klinika detskej chirurgie, Národný ústav detských chorôb, Bratislava, Slovenská republika ⁵
Published in the journal: Klin Onkol 2023; 36(5): 396-400
Category: Case Report
doi: https://doi.org/10.48095/ccko2023396

Summary

Background: Alveolar soft part sarcoma (ASPS) is a very rare mesenchymal malignancy of uncertain origin. It mostly affects young people, with about a quarter of cases being diagnosed in children.

Case: An 11-year-old girl had a painless subcutaneous “lump” in the left elbow area. Imaging exams revealed a solid soft-tissue intramuscular mass of suspicious appearance. A surgical excision of lesion was performed. The biopsy consisted of a lobular tumor measuring 35 × 20 × 12 mm. Histology revealed an epithelioid-cell population arranged in organoid pseudoalveolar pattern. It immunohistochemically expressed TFE3 and harbored the ASPSCR1:: TFE3 gene fusion. A diagnosis of ASPS was established. Subsequently, a wide re-excision of the scar was performed without microscopic residual tumor. The patient is currently without evidence of local recurrence or metastasis.

Conclusion: ASPS is considered an aggressive and prognostically unfavorable chemoresistant neoplasm. Children have a better prognosis compared to adults. Early detection of tumor in a localized stage with complete surgical removal remains a mainstay therapeutic option. Due to its tendency to late metastases, a long-term thorough follow-up of the patient is necessary.

Keywords:

alveolar soft part sarcoma – ASPSCR1:: TFE3

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