03 May 2022
Perianal/perineal rhabdomyosarcoma: Results of the SIOP MMT 95, Italian RMS 96, and EpSSG RMS 2005 studies.
Pediatric Blood Cancer. 2022; e29739 DOI: 10.1002/pbc.29739
Rhabdomyosarcoma of the perianal/perineal region is rare, with poor survival and limited understanding of the functional consequences of treatment. Fifty patients from three European trials were analysed to identify factors that impacted their survival. Two-thirds of patients had large tumours, and similarly two-thirds had the less favourable alveolar subtype with three-quarters of these having a genetic fusion. Nearly half had lymph node tumour spread at diagnosis, emphasising the importance of identifying tumour spread to the lymph nodes. Attempt at complete surgical removal of the tumour at diagnosis was seldom possible, indicating biopsy as the best initial procedure. Tumour removal after chemotherapy was followed by radiotherapy in two-thirds of patients, most with external beam radiotherapy, and a few with local techniques (brachytherapy). Despite treatment, progression or relapse of disease occurred in nearly a half of patients after five years follow-up, resulting in death in most of these patients. About 60% of patients survived with one-third having faecal incontinence or urinary symptoms. Quality of life and functional studies are needed to better understand the consequences of treatment.