TY - JOUR
T1 - Perianal/perineal rhabdomyosarcoma
T2 - Results of the SIOP MMT 95, Italian RMS 96, and EpSSG RMS 2005 studies
AU - Rogers, Timothy
AU - Zanetti, Ilaria
AU - Coppadoro, Beatrice
AU - Martelli, Hélène
AU - Jenney, Meriel
AU - Minard-Colin, Veronique
AU - Terwisscha van Scheltinga, Sheila E.J.
AU - Skerritt, Clare
AU - Fajardo, Raquel Dávila
AU - Guérin, Florent
AU - Kelsey, Anna
AU - Merks, Johannes H.M.
AU - Mandeville, Henry
AU - Guillén, Gabriela
AU - Glosli, Heidi
AU - De Corti, Federica
AU - Bisogno, Gianni
N1 - Funding Information:
The authors thank the patients, caregivers, medical staff, and clinical treatment centers involved in this study, and Julia Daragjati for her organizational and administrative expertise. EpSSG RMS 2005 and RMS 96 received support from Fondazione Città della Speranza, Italy.
Publisher Copyright:
© 2022 Wiley Periodicals LLC.
© 2022 Wiley Periodicals LLC.
PY - 2022/9
Y1 - 2022/9
N2 - BACKGROUND/OBJECTIVES: Rhabdomyosarcoma of the perianal/perineal region (PRMS) is rare, with poor survival and limited understanding of the functional consequences of treatment.DESIGN/METHODS: International Society of Pediatric Oncology (SIOP) malignant mesenchymal tumor (MMT) 95, Italian RMS 96, and European paediatric Soft tissue sarcoma Study Group (EpSSG) RMS 2005 studies were interrogated to identify factors that impact survival; in RMS 2005, functional outcomes were analyzed.RESULTS: Fifty patients (nonmetastatic) were identified, median age 6.4 years (range: 0.1-19.6): 29 male, 21 female. Tumors were >5 cm in 33 patients. Histopathological subtype was alveolar in 35. Lymph nodes were involved in 23 patients. In RMS 2005, 16/21 (76%) tested alveolar tumors had positive FOXO1 fusion status. Diagnostic biopsy was performed in 37. Primary resection (13) was complete (R0) in one. Delayed primary excision (16) was complete in three. Radiotherapy (RT) in 34/50 patients included external beam (28), brachytherapy (3), and both (3). Nodal RT was given in 16/23 N1 patients (70%). Median follow-up of alive patients (29) was 84.1 months (range: 3.6-221.1). Relapse or progression occurred in 24 patients (48%), 87% were fatal and most events (63%) were locoregional. Five-year event-free survival (EFS) was 47.8 (95% CI: 32.8-61.3), and 5-year overall survival (OS) was 52.6 (95% CI: 36.7-66.2), with age ≥10 years and tumor size >5 cm impacting 5-year EFS and OS (p < .05). Functional outcome data showed bowel, genito-urinary, and psychological issues; fecal incontinence in four of 21 survivors, and urinary symptoms in two of 21.CONCLUSIONS: About 60% of patients with nonmetastatic PRMS survive; older patients and those with large tumors have the worst outcomes. Biopsy should be the initial procedure, and definitive local therapy individualized. Quality-of-life and functional studies are needed to better understand the consequences of treatment.
AB - BACKGROUND/OBJECTIVES: Rhabdomyosarcoma of the perianal/perineal region (PRMS) is rare, with poor survival and limited understanding of the functional consequences of treatment.DESIGN/METHODS: International Society of Pediatric Oncology (SIOP) malignant mesenchymal tumor (MMT) 95, Italian RMS 96, and European paediatric Soft tissue sarcoma Study Group (EpSSG) RMS 2005 studies were interrogated to identify factors that impact survival; in RMS 2005, functional outcomes were analyzed.RESULTS: Fifty patients (nonmetastatic) were identified, median age 6.4 years (range: 0.1-19.6): 29 male, 21 female. Tumors were >5 cm in 33 patients. Histopathological subtype was alveolar in 35. Lymph nodes were involved in 23 patients. In RMS 2005, 16/21 (76%) tested alveolar tumors had positive FOXO1 fusion status. Diagnostic biopsy was performed in 37. Primary resection (13) was complete (R0) in one. Delayed primary excision (16) was complete in three. Radiotherapy (RT) in 34/50 patients included external beam (28), brachytherapy (3), and both (3). Nodal RT was given in 16/23 N1 patients (70%). Median follow-up of alive patients (29) was 84.1 months (range: 3.6-221.1). Relapse or progression occurred in 24 patients (48%), 87% were fatal and most events (63%) were locoregional. Five-year event-free survival (EFS) was 47.8 (95% CI: 32.8-61.3), and 5-year overall survival (OS) was 52.6 (95% CI: 36.7-66.2), with age ≥10 years and tumor size >5 cm impacting 5-year EFS and OS (p < .05). Functional outcome data showed bowel, genito-urinary, and psychological issues; fecal incontinence in four of 21 survivors, and urinary symptoms in two of 21.CONCLUSIONS: About 60% of patients with nonmetastatic PRMS survive; older patients and those with large tumors have the worst outcomes. Biopsy should be the initial procedure, and definitive local therapy individualized. Quality-of-life and functional studies are needed to better understand the consequences of treatment.
KW - pediatric
KW - perianal
KW - perineal
KW - rhabdomyosarcoma
KW - Rhabdomyosarcoma/pathology
KW - Mesenchymoma
KW - Neoplasm Recurrence, Local/radiotherapy
KW - Rhabdomyosarcoma, Embryonal
KW - Humans
KW - Child, Preschool
KW - Infant
KW - Male
KW - Organometallic Compounds
KW - Young Adult
KW - Adolescent
KW - Female
KW - Child
UR - http://www.scopus.com/inward/record.url?scp=85129295961&partnerID=8YFLogxK
U2 - 10.1002/pbc.29739
DO - 10.1002/pbc.29739
M3 - Article
C2 - 35460336
AN - SCOPUS:85129295961
SN - 1545-5009
VL - 69
JO - Pediatric Blood and Cancer
JF - Pediatric Blood and Cancer
IS - 9
M1 - e29739
ER -