21 - Gain-of-Function SAMD9L Mutations Cause a Syndrome of Cytopenia, Immunodeficiency, Myelodysplastic Syndrome and Neurological Symptoms

Abstract

Because of the increasing use of nephron-sparing surgery (NSS) in bilateral Wilms tumor, we sought to review the early postoperative complications associated with NSS.A retrospective review of patients who underwent NSS at our institution from 2000 to 2017 was performed. For comparison, a cohort of patients who underwent radical nephrectomy (RN) was also reviewed. Early (30-day) postoperative complications and oncologic outcomes were assessed.Fifty-five patients underwent either bilateral (46) NSS or unilateral (9) NSS owing to prior resection or congenital solitary kidney. Fifty-four patients who underwent unilateral RN were also evaluated. Twenty NSS patients (36.4%) experienced 21 postoperative complications, including prolonged urine leak (9), infection (8), transient renal insufficiency (1), and intussusception (3). Seven RN patients (13.0%) experienced surgical complications, including infection (4) and intussusception (3). Average intraoperative blood loss was significantly greater in NSS as compared to RN (483.51 ± 337.92 mL and 278.15 mL ± 390.25, respectively, p < 0.001), as was the incidence of positive tumor resection margins (20 [36.4%] and 12 [22.2%], respectively, (p = 0.037).In our experience, prolonged urine leak, intraoperative blood loss, and positive margins were more frequent in patients undergoing NSS as compared to RN. However, the complications were successfully managed, suggesting that an aggressive approach to NSS in patients with bilateral Wilms tumor is safe and appropriate.Level IIITreatment study.