Pure malignant rhabdoid tumour of the bladder

Abstract

We present the case of a 17-year-old girl with pure malignant rhabdoid tumour of the bladder treated with a multimodal approach. She is recurrence-free at her 1-year follow-up. Case reportWe present the case of a 17-year-old female who presented with lethargy, haemoglobin of 41 g/L and an abdominal ultrasound showing a 5-cm bladder mass. She had no hematuria.Endoscopic examination demonstrated a solid tumour resembling a transitional cell carcinoma and 42 g were resected. The tumour was poorly differentiated showing immunohistochemical positivity for pan cytokeratin, CD34, WT1 and CD56. This was interpreted as a poorly differentiated carcinoma with neuroendocrine features. The slides were sent for a second opinion to the pediatric pathologist at the Bristol Royal Infirmary and Great Ormond Street, UK. Further immunohistochemistry showed loss of INI1/BAF47 and positive vimentin staining. This was diagnostic of a malignant rhabdoid tumour (MRT). There was no evidence of deletion of the HIRA region of 22q11, assessed using in situ hybridization, although small deletions may be missed using this technique.A staging computed tomography scan and magnetic resonance imaging (MRI) post-resection revealed localized disease. She was reviewed at both the pediatric and adult bladder cancer multidisciplinary meetings where a decision for a multimodal therapy was made.She received 2 cycles of doxorubicin, ifosfamide, carboplatin and etopside, and a subsequent MRI demonstrated good response.She underwent a robotic uterine, cervical and vaginal sparing cystectomy and intracorporeal formation of an ileal conduit. The decision to spare her vagina, cervix and uterus was deemed feasible from an oncological point of view and desirable for her age. The choice of reconstruction was limited by the need to keep the pelvis clear for subsequent radiotherapy. The ovaries were transposed out of the pelvis and marked with metal clips to enable future identification. Access to the vesical pedicles and bladder was achieved through 2 windows on both sides; the first between the medial umbilical ligament, round ligament and the pelvic side wall, and the second through the broad ligament inferior to the round ligament. Vaginal preservation was achieved through an incision made superiorly to the cervix with the plane of dissection between bladder and vagina guided by a vaginal swabstick. Finally, an omental flap was developed and attached to the pelvic side wall, the round ligament and to the superior surface of the uterus to prevent small bowel falling into the radiation field postoperatively. She had an uneventful recovery and was discharged on postoperative day 4. The specimen confirmed a 10-mm MRT with invasion through muscle into fat, clear surgical margins and all 17 lymph nodes were negative (pT3aN0MO).Three weeks following surgery, she started a combination of radiotherapy and a total of 9 cycles of high-dose alkylating chemotherapy: vincristine, cyclophosphamide, actinomycin D, ifosfamide, carboplatin and etopside. MRI scans of the...

Robot‐assisted radical cystectomy with intracorporeal urinary diversion: impact on an established enhanced recovery protocol

“…If oncologically and functionally appropriate preservation of the neurovascular bundle is performed in men. In appropriate female patients an organ‐sparing approach is adopted with preservation of the ovaries, vagina, and para‐vaginal tissues . The dorsal venous complex and pelvic veins in women are appropriately controlled and the urethra managed to prevent tumour spillage.…”

Genetics of Bladder Malignant Tumors in Childhood

“…The diagnostic feature of a rhabdoid tumour is the loss of normal nuclear INI1 expression. The common genetic basis for rhabdoid tumours is a deletion and/or mutation of the INI1 gene, leading to inactivation of the tumour suppressor gene SMARCB1, although some cases it may lack this mutation [ 129 ].…”

Pure Bladder Malignant Rhabdoid Tumor Successfully Treated With Partial Cystectomy, Radiation, and Chemotherapy: A Case Report and Review of the Literature

“…MRTs originating from the bladder are scarce, with 8 pediatric cases reported with ages ranging between infancy and 17 years (ours being the second youngest) 5–11. Of those, 4 received neoadjuvant chemotherapy, with good response in 3 (75%).…”