Wilms Tumor Associated with Genetic Syndromes and Congenital Malformations

Aim: To evaluate the presence of genetic anomaly, clinical malformation and syndromes with a tendency to develop Wilms tumor (WT).

Patients and Methods: 683 patients with Wilms tumor who were treated between 1972 and 2016 were retrospectively analyzed. Clinical details, treatment and survival analysis were done. Associated congenital anomalies, genetic syndromes were noted.

Results: We found 54 patients with genetic anomaly, clinical malformation and syndromes with a tendency to develop tumors out of 683 patients with WT (7%). Male/female ratio was 3.1. Mean age of diagnosis for WT was 3.3 years (0,18 years- 4 years). Syndromes with a tendency to develop tumors were Denys Drash (n=10), Beckwith Wiedemann (n=1), WAGR (n=2), Fanconi (n=1), Bloom (n=1) and familial WT (n=1). Genitourinary anomalies were horse shoe kidney (n=6), hydrocele (n=5), undescended testis (n=11), hypospadias (n=3), bilateral vesicoureteral reflux (n=1), duplex ureter or collecting system (n=1), renal hypoplasia (n=1) and inguinal hernia (n= 4). Clinical malformations were hemihypertrophy (n=8), isolated aniridia (n=1) and other malformations (n=2). We found 9 patients with bilateral WT. Thirty (55.6%) patients received radiotherapy, 53 patients received chemotherapy (98.1%) and 4 patients underwent partial nephrectomy. Three and five year overall survival rates were 74 and 63%. Event-free survival rate was lower in female patients (p= 0.04).

Three out of 10 patients with Denys Drash syndrome are alive and 3 of them did not survive after 10 years due to secondary problems; the patient with Fanconi anemia died at the early period; the patients with Bloom and WAGR syndrome died in 11 and 18 years, respectively and the patient with vertebra anomaly died after 4.5 years due to syndrome related complications.

Conclusion: The most common associated anomalies were genitourinary anomalies and in long term follow up tumor unrelated deaths were more in syndromic patients.