1- Serviço de Cirurgia Pediátrica, Área da Mulher, Criança e Adolescente, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa;
2- Serviço de Pediatria, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa
- Poster - The Southside of Urology 2019 – Simpósio de Urologia; 24 e 26 de Outubro de 2019, Costa da Caparica
Introduction: Exstrophy of the bladder is a rare congenital malformation and is associated with an increased incidence of bladder carcinoma. The case described herein of a rhabdomyosarcoma of embryonal variety in unrepaired exstrophic bladder is a very rare finding. The authors found only one other case in literature that reported the association of rhabdomyosarcoma and exstrophic bladder, dated back to 1972.
Case Report: We report a case of a 16-month old girl, born at 35 weeks after an uneventful pregnancy without teratogen exposure. She had multiple congenital anomalies. Physical examination revealed an omphalocele, extrophic bladder with pubic separation, imperforate anus, ang giant hemangioma of the thigh and leg. Underdeveloped genitalia was present, but no vagina was visible. She was submitted to surgery in first day of life were intestinal malrotation with minor omphalocele was observed. There was a didelphys uterus which communicated with bladder and with a blind rectum trough a fistula. The omphalocele and malrotation were repaired. Partial bladder closure with vesicostomy and divided colostomy were performed. Radiographic studies revealed right renal agenesia. Genetic analysis revealed 46 XX karyotype and a dup 2p11.2. A sagittal posterior anorectoplasty and colostomy closure were done at 8 and 11 months of age, respectively. When the child was 14 months- old she presented with a polypoid mass with more than 5 cm dimension, partially occupying her bladder and prolapsing through vesicostomy. Biopsy revealed embryonal rhabdomyosarcoma, positive for myogenin. The metastatic evaluation with CT was negative. Patient started on chemotherapy according to subgroup B/C of Protocol EpSSG RMS2005 (D-Actinomycin, Vincristine and cyclophosphamide every 3 weeks, 9 courses), with tumour response. After chemotherapy the patient underwent radical cystectomy, total hysterectomy, symphysis pubic closure, and terminal ureterostomy with no complications. The convalescence was uneventful.
Discussion/Conclusions: OEIS is the acronym for a malformations complex association consisting of omphalocele, exstrophy of bladder or cloaca, anal imperforation and spinal defects. This multisystem malformation represents the most severe phenotype of the bladder exstrophy-epispadias complex spectrum. Its incidence is rare, thought to occur in 1 in 200,000 to 1 in 250,000 live births. The etiology of OEIS is unknown. Most cases are sporadic but there are reports of occurrence in siblings and twins suggesting a genetic contribution to the pathogenesis of OEIS complex. It has been shown to be associated to Opitz G /BBB, Goltz syndrome, among others, trissomies 13, 18 and some gene mutations. There are numerous congenital syndromes, (Costello Syndrome, Rubisntein-Taybi syndrome, LI-Fraumeni Syndrome, among others), associated with an increased risk of rhabdomyosarcoma development. There is no known association between OEIS complex and embryonal rhabdomyosarcoma. The increased incidence of bladder cancer in exstrophic bladder is several times greater than in age-matched controls in general population. The etiology of this increased incidence remains unclear, one theory holds that the chronic irritation and infection lead to metaplasia of urothelium. Approximately 90% of cancers occurring in exstrophic bladders are adenocarcinomas and 5% are squamous cell carcinomas. This case is important for its rarity and therapeutic challenge. It elucidates the importance of a multidisciplinary approach. Subspecialties must work together to tailor therapy to individual patient and tumour characteristics.