Desmoid Tümörler ve Dermatofibrosarkoma Protuberans
Özet
Desmoid tümörler ve dermatofibrosarkoma protuberans (DFSP), metastaz potansiyelleri düşük olmasına rağmen yüksek lokal nüks eğilimleri ve agresif seyirleri nedeniyle ciddi morbiditeye yol açabilen nadir yumuşak doku tümörleridir. Agresif fibromatozis olarak da adlandırılan desmoid tümörler, sıklıkla kadınlarda, karın duvarı ve intra-abdominal bölgelerde görülür; etyolojisinde APC ve beta-katenin gen mutasyonları ile yüksek östrojen seviyeleri önemli rol oynar. DFSP ise genellikle otuzlu yaşlarda, gövde veya ekstremitelerde yavaş büyüyen plaklar şeklinde ortaya çıkan kütanöz bir malignitedir ve t(17;22) translokasyonu ile ilişkilidir. Her iki tümörün de birincil tedavi yaklaşımı, negatif cerrahi sınırlar hedeflenerek gerçekleştirilen cerrahi rezeksiyondur. Ancak cerrahinin morbidite oluşturduğu, uygulanamadığı veya metastatik durumların geliştiği vakalarda alternatif tedaviler devreye girer. Desmoid tümörlerin yönetiminde izlem, radyoterapi ve tirozin kinaz inhibitörleri (sorafenib), hormonal tedaviler ya da sitotoksik kemoterapiler kullanılırken; DFSP tedavisinde Mohs mikrografik cerrahisi ve özellikle rezeke edilemeyen olgularda hedefe yönelik bir ajan olan imatinib ön plana çıkmaktadır. Bu multidisipliner yaklaşımlar hasta sağkalımını optimize etmeyi amaçlar.
Desmoid tumors and dermatofibrosarcoma protuberans (DFSP) are rare soft tissue neoplasms characterized by low metastatic potential but high rates of local recurrence, leading to significant patient morbidity. Desmoid tumors, also known as aggressive fibromatosis, predominantly affect females and commonly develop in the abdominal wall and intra-abdominal regions. Their pathogenesis is strongly associated with APC or beta-catenin gene alterations and elevated estrogen levels. Conversely, DFSP is a distinct cutaneous sarcoma that typically manifests in the third decade of life as a slow-growing, asymptomatic plaque on the trunk or extremities, driven by the t(17;22) chromosomal translocation. Wide surgical excision achieving negative margins remains the primary definitive therapeutic strategy for both malignancies. However, when surgical intervention is contraindicated due to severe morbidity or in unresectable, recurrent, and metastatic scenarios, alternative modalities are utilized. Desmoid tumor management encompasses active surveillance, radiotherapy, tyrosine kinase inhibitors like sorafenib, hormonal therapies, and cytotoxic regimens. For DFSP, Mohs micrographic surgery is preferred, and imatinib serves as the primary targeted systemic agent for advanced cases. These tailored, multidisciplinary approaches are crucial for optimizing long-term survival outcomes.
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