Epidemiological characteristics and outcomes of genitourinary involvement in pediatric neurofibromatosis type 1: a systematic review and meta-analysis
Hong Truong, MD1, Jennifer Hagerty, DO2.
1Thomas Jefferson University Hospital, Philadelphia, PA, USA, 2Alfred I. DuPont Hospital for Children, Wilmington, DE, USA.
BACKGROUND: Genitourinary involvement in neurofibromatosis type 1 (NF1) poses a challenge to pediatric urologists because the tumor is often extensive, recurrent, and harbors malignant potential. Current literature on NF1 with GU manifestation is limited to case reports and literature review. The objective of this study is to systematically review the published case series and analyze the pooled data on pediatric GU neurofibromatosis to define the clinical course and outcomes of the disease.
METHODS: A systematic search strategy was applied in Pubmed. All publications on GU neurofibromatosis were thoroughly screened for relevance, resulting in 91 publications of which 48 publications reporting 80 separate cases of pediatric GU neurofibromatosis were eligible for meta-analysis. Clinical characteristics, management, and outcomes were assessed.
RESULTS: Among 80 pediatric patients with GU neurofibromatosis, the mean age at presentation was 6.7 ± 6.1 years and 68% were male. Approximately 25% of patients presented with palpable abdominal mass, 25% with irritative voiding symptoms, 16% with genitomegaly, and 13% with obstructive voiding symptoms. The bladder is the most commonly involved organ (92.5%) followed by ureters causing upper tract obstruction (47.5%). A total of 75% of patients underwent at least one surgical procedure. Malignancy was diagnosed in 30% of patients, which included rhabdomyosarcoma, malignant schwannoma, and malignant titron tumor. With a median follow up of 1.9 ± 4.9 years, the overall mortality rate was 26.4%. Approximately 55% of patients were alive with clinical improvement while 18.9% of patients still had persistent symptoms requiring further interventions.
CONCLUSIONS: A significant percentage of patients with GU neurofibromatosis presented with benign pediatric voiding symptoms. The overall malignant potential of neurofibromatosis involving the GU system was 30% with a high mortality rate of 26.4%. Further investigation of this condition is warranted to optimize treatment and follow up strategy to improve patient's quality of life and survival.
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