Wilms Tümörü Vakalarına Eşlik Eden Konjenital Anomali, Malformasyon ve Genetik Sendromlar

Abstract

Aim: To evaluate the clinical abnormalities with a tendency to develop Wilms tumor, under genetic syndromes, anomalies and malformations. Patients and Methods: Between 1971 and 2023, 68 patients were diagnosed with Wilms tumor and a concomitant clinical abnormality at Hacettepe University, Department of Pediatric Oncology. The clinical characteristics, treatment results were retrospectively analyzed. Results: A clinical abnormality related to Wilms tumor were found in 68 (%8,8) among 775 patients admitted during 52-year period. The median age of diagnosis was 2,1 (minimum of 1 month to maximum of 11,7 years). Male:female ratio was 2. Syndromes with predisposition to WT were: WAGR Syndrome (n=8), Beckwith Wiedemann Syndrome (n=4), Denys Drash Syndrome (n=9), Frasier Syndrome (n=1), Fanconi Syndrome (n=2). Genitourinary anomalies were: duplex collecting system (n=7), horseshoe kidney (n=7), renal hypoplasia (n=1), cryptorchidism (n=13), and hypospadias (n=8). Hemihypertrophy cases (n=10) and other malformation syndromes (n=3) were noted. Familial Wilms tumor was detected in one patient. %14,7 of patients had a genetically proven predisposition syndrome. %19,1 of patients were diagnosed through screening. Bilateral tumors were present in %29,4. Histological diagnosis of anaplasia was made in 2. 25 patients had Stage I-II disease and eight had metastatic disease at the time of diagnosis. Surgery had been performed in %95,5, %95,5 had received chemotherapy, and %44,1 had received radiotherapy. Median follow-up was 9,2 years. 30 deaths were observed in 68 patients. 10-year overall survival (OS) and event-free survival (EFS) were %65,8 and %56,3, respectively. The type of clinical abnormality did not affect OS and EFS, but %16,6 of deaths were due to morbidity related to their clinical abnormality. Patients were frequently affected by syndromic complications or treatment- related late effects. Conclusion: Wilms tumor is associated with genetic syndromes, congenital anomalies and malformations the most, of all pediatric cancers. Patients with related clinical abnormalities were relatively younger and had often bilateral disease. Also, this group of patients were at high risk for premature death due to syndromic complications. Further studies should be conducted to investigate the role of screening and its effect on survival in these patients.