Zeliha GUZELKUCUK, Derya ÖZYÖRÜK, Arzu YAZAL ERDEM, Ayça KOCA YOZGAT, Can Barış AKER, İnci YAMAN BAJİN, Suna EMİR, Namık Yaşar ÖZBEK

Çocukluk Çağındaki Rabdoid Tümörlerin Klinik Özellikleri ve Sonuçları

Amaç: Pediatrik Rabdoid tümörler oldukça agresif, kötü prognozlu tümörlerdir. Şu anda standart tedaviler hakkında fikir birliği yoktur. Bu çalışmada pediatrik rabdoid tümörlerin klinik özelliklerinin ve tedavi sonuçlarının değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: 2013-2020 yılları arasındaki veri setinden sekiz malign rabdoid tümör retrospektif olarak değerlendirildi. Bulgular: 8 hastanın 5'i erkekti (Erkek/kadın: 5/3). Ortanca yaş 24 aydı, 6 hasta (%70) 3 yaşın (4 ay-10 yaş) altındaydı. Tümör lokalizasyonları heterojendi (5 merkezi sinir sistemi, 1 multifokal, 1 böbrek ve 1 mesane). Bir hastada germ line heterozigot SMARCB1 mutasyonunu saptandı. Hastalarda Wernicke benzeri ensefalopati, vinkristin nöropatisi, veno-tıkayıcı hastalık başta olmak üzere hematolojik toksisite/mukozit ve febril nötropeni görülmüştür. Beş hasta progresif hastalık nedeniyle öldü (%62). Tüm hastaların ortanca takip süresi 24,5 aydı (minimum- maximum: 6-41 ay). 2 yıllık olaysız ve genel sağkalım oranları sırasıyla %37,5 ve %50' olarak hesaplanmıştır. Sonuç: Pediatrik rabdoid tümörlerin çeşitli yaş ve lokalizasyonlarda ortaya çıkabileceği, ancak çoğunlukla 3 yaş altı ve santral sinir sistemi olabileceği akılda tutulmalıdır. Nadir görülmesi nedeniyle deneyim sınırlıdır, ancak otolog hematopoietik kök hücre transplantasyonu ile yüksek doz kemoterapinin eklenmesi, transplantasyondan önce tam remisyona ulaşan hasta alt grubunda etkili olabilir. Yoğun tedavilerden kaynaklanan toksisiteler yönetilebilir, ancak hayatta kalma oranlarını iyileştirmek için yeni hedefli tedaviler gereklidir.

Anahtar Kelimeler:

Çocuk, rabdoid tümör, atipik teratoid rabdoid tümör

Clinical Characteristics and Outcomes of Rhabdoid Tumors in Childhood

Background/Aims: Pediatric Rhabdoid tumors are highly aggressive tumor with poor prognosis. There are no consensus about standart treatments currently. It was aimed to evaluate clinical characteristics and outcomes of pediatric rhabdoid tumors. Material and Method: Eight malignant rhabdoid tumor were evaluated retrospectively from data set between 2013 to 2020. Results: Of 8, 5 patients were male (Male/female: 5/3). The median age was 24 months, 6 patients (70%) were below 3 years (4 months-10 years). Tumor localizations were heterogeneous: (5 central nervous system, 1 multifocal, 1 kidney, and 1 bladder). Genetic analysis revealed germline heterozygous SMARCB1 mutation in one (12%) patient. Patients experienced various toxicities such as Wernicke's-like encephalopathy, vincristine neuropathy, veno-occlusive disease mainly haematological toxicity/mucositis and febrile neutropenia. Five patients died due to progressive disease (62%). The median follow-up time of all patients was 24.5 months (ranges 6-41 months). The 2-year- event-free and overall survival rates are 37.5% and 50%, respectively. Conclusion: It should keep in mind pediatric rhabdoid tumors might present with various ages and localisations, but mainly under 3 years old and central nervous system. The experience is limited due to rarity, but addition of high-dose chemotherapy with autologous hematopoietic stem cell transplantation could be efficious in subset of patients who achieved complete remission before transplantation. The toxicities resulted from intensive treatments could be managable yet new targeted therapies are required to improve survival rates.

Keywords:

Child, rhabdoid tumor, atypical teratoid rhabdoid tumor,

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