Alveolar Soft Part Sarkomlar ve Periferik Sinir Kılıfı Tümörleri
Özet
Alveolar soft part sarkomlar (ASPS), tüm yumuşak doku sarkomlarının yüzde birinden azını oluşturan, der(17)t(X:17)(p11:q25) kromozomal alterasyonu ve TFE3 pozitifliği ile karakterize nadir neoplazmalardır. Genellikle genç erişkinlerde alt ekstremitelerde ağrısız kitleler olarak ortaya çıkan ASPS, yavaş büyümekle birlikte tanı anında sıklıkla metastatiktir. Konvansiyonel kemoterapiye dirençli olan bu hedeflenebilir tümörde, lokalize hastalıkta geniş cerrahi rezeksiyon (R0) en etkili tedavi yöntemi iken, metastatik evrede sunitinib ve pazopanib gibi anti-VEGF tirozin kinaz inhibitörleri ile pembrolizumab gibi immün checkpoint inhibitörleri ön plana çıkmaktadır. Diğer taraftan, sarkomların yaklaşık yüzde dördünü oluşturan periferik sinir kılıfı tümörleri (PSKT), nörofibromatozis tip 1 ve radyasyon maruziyeti ile ilişkili heterojen bir gruptur. Klinik olarak paraparezi, ağrı ve nörolojik defisitlerle prezante olan bu tümörlerde tanı ve malign-benign ayrımı için altın standart biyopsidir. Malign periferik sinir kılıfı tümörleri (MPSKT), yüksek mitotik indeks ve nekroz ile karakterize agresif sarkomlar olup, tedavilerinde fonksiyonel uzuv koruyucu cerrahi operasyonlar, preoperatif/postoperatif radyoterapi ve antrasiklin bazlı (ifosfamid kombinasyonlu) veya alternatif gemsitabin-dosetaksel sistemik kemoterapi rejimleri tercih edilmektedir.
Alveolar soft part sarcomas (ASPS) are rare neoplasms accounting for less than one percent of soft tissue sarcomas, characterized by the specific der(17)t(X:17)(p11:q25) chromosomal alteration and TFE3 positivity. Usually presenting as painless masses in the lower extremities of young adults, ASPS grows slowly but is frequently metastatic at diagnosis. Resistant to conventional chemotherapy, this targetable tumor relies on wide surgical resection (R0) as the primary treatment for localized disease, while anti-VEGF receptor tyrosine kinase inhibitors such as sunitinib and pazopanib, alongside immune checkpoint inhibitors like pembrolizumab, are utilized in metastatic stages. Conversely, peripheral nerve sheath tumors (PNST) constitute four percent of sarcomas and form a heterogenous group associated with neurofibromatosis type 1 and radiation exposure. Clinically presenting with numbness, pain, and neurological deficits, biopsy remains the gold standard for diagnosis and differentiation. Malignant peripheral nerve sheath tumors (MPNST) are aggressive sarcomas marked by high mitotic indices and necrosis; their management comprises limb-sparing surgery, preoperative/postoperative radiotherapy, and anthracycline-based systemic chemotherapies, particularly ifosfamide combinations or alternative gemcitabine-docetaxel regimens.
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