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Πέμπτη 14 Οκτωβρίου 2021

Neck Mass in an Adolescent......

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A 13-year-old male presented to the pediatric otolaryngology clinic with a 2-year history of a right neck mass that had slowly increased in size. He denied any associated symptoms of pain, fevers, chills, malaise, night sweats, unintentional weight loss, prior history of neck masses, recent upper respiratory tract infections, or skin lesions. He was the product of a full-term pregnancy with up-to-date immunizations. Physical examination revealed a 2.5-cm firm, ovoid, mobile, and nontender mass at the apex of the posterior triangle of the right neck without any associated overlying skin changes. The remainder of the head and neck examination was unremarkable. Doppler ultrasonography revealed a 1.9 × 1.8 × 0.9-cm hypoechoic mass, and subsequent fine-needle aspirates demonstrated cells with elongated nuclei and eccentric blue cytoplasm in a background of myxoid stroma. The mass was excised in en tirety without issue. At the time of surgery, the deep surface of the mass was found to be adherent to the sternocleidomastoid muscle. The lesion was resected with a cuff of muscle and sent for permanent histopathological examination. This revealed proliferation of bland spindle cells with plump nuclei and eosinophilic cytoplasm arranged as loose fascicles in a background of myxoid stroma (Figure 1). These cells were positive for mucin 4 (MUC4), epithelial membrane antigen (EMA), and transducing-like enhancer of split 1 (TLE1) immunohistochemical stains. Fluorescence in situ hybridization (FISH) revealed a positive FUS (16p11) gene rearrangement.


A t(7;16)(q34;p11) translocation, yielding a FUS/CREB3L2 fusion gene, has been identified in approximately 80%-90% of deep soft tissue LGFMS.https://pubmed.ncbi.nlm.nih.gov/21399449/

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This case report describes a 13-year-old male who presented with a 2-year history of a right neck mass that had slowly increased in size. What is your diagnosis?
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