Ida Russo1, Virginia Di Paolo2, Carmelo Gurnari2, Angela Mastronuzzi2, Francesca Del Bufalo2, Pier Luigi Di Paolo3, Angela Di Giannatale2, Renata Boldrini4, Giuseppe Maria Milano2. 1. Department of Pediatric Hematology/Oncology, Bambino Gesù Children's Hospital, IRCCS, Piazza di Sant'Onofrio 4, 00165, Rome, Italy. ida.russo@opbg.net. 2. Department of Pediatric Hematology/Oncology, Bambino Gesù Children's Hospital, IRCCS, Piazza di Sant'Onofrio 4, 00165, Rome, Italy. 3. Department of Radiology, Bambino Gesù Children's Hospital, IRCCS, Piazza di Sant'Onofrio 4, 00165, Rome, Italy. 4. Department of Laboratories - Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Piazza di Sant'Onofrio 4, 00165, Rome, Italy.
Abstract
BACKGROUND: Rhabdomyosarcoma (RMS), one of the most common soft tissue sarcomas of childhood, is very rare in the neonatal period (0.4-2% of cases). In order to gain a deeper understanding of this disease at such age, patient and tumor features, as well as treatment modality and outcome need to be reported. CASE PRESENTATION: We describe two cases with congenital RMS treated at Bambino Gesù Children's Hospital between 2000 and 2016. They represent only 2.24% of all RMS patients diagnosed during that period in our Institution; this data is in agreement with the incidence reported in the literature. They reflect the two different clinical forms in which the disease may manifest itself. One patient, with the alveolar subtype (positive for specific PAX3-FOXO1 fusion transcript) and disseminated disease, had a fatal outcome with central nervous system (CNS) progression despite conventional and high dose chemotherapy. The other child, with the localized embryonal subtype, was treated successfully with conservative surgery and conventional chemotherapy, including prolonged maintenance therapy. He is disease free at 7 years of follow-up. CONCLUSIONS: RMS can also be diagnosed during the neonatal period. Given the young age, disease management is often challenging, and especially for the alveolar subtype, the outcome is dismal despite intensified multimodality therapy. In fact, it characteristically manifests with multiple subcutaneous nodules and progression most commonly occurs in the CNS (Rodriguez-Galindo et al., Cancer 92(6):1613-20, 2001). In this context, CNS prophylaxis could play a role in preventing leptomeningeal dissemination, and molecular studies can allow a deeper tumor characterization, treatment stratification and identification of new potential therapeutic targets.
BACKGROUND:Rhabdomyosarcoma (RMS), one of the most common soft tissue sarcomas of childhood, is very rare in the neonatal period (0.4-2% of cases). In order to gain a deeper understanding of this disease at such age, patient and tumor features, as well as treatment modality and outcome need to be reported. CASE PRESENTATION: We describe two cases with congenital RMS treated at Bambino Gesù Children's Hospital between 2000 and 2016. They represent only 2.24% of all RMS patients diagnosed during that period in our Institution; this data is in agreement with the incidence reported in the literature. They reflect the two different clinical forms in which the disease may manifest itself. One patient, with the alveolar subtype (positive for specific PAX3-FOXO1 fusion transcript) and disseminated disease, had a fatal outcome with central nervous system (CNS) progression despite conventional and high dose chemotherapy. The other child, with the localized embryonal subtype, was treated successfully with conservative surgery and conventional chemotherapy, including prolonged maintenance therapy. He is disease free at 7 years of follow-up. CONCLUSIONS: RMS can also be diagnosed during the neonatal period. Given the young age, disease management is often challenging, and especially for the alveolar subtype, the outcome is dismal despite intensified multimodality therapy. In fact, it characteristically manifests with multiple subcutaneous nodules and progression most commonly occurs in the CNS (Rodriguez-Galindo et al., Cancer 92(6):1613-20, 2001). In this context, CNS prophylaxis could play a role in preventing leptomeningeal dissemination, and molecular studies can allow a deeper tumor characterization, treatment stratification and identification of new potential therapeutic targets.
Authors: D Orbach; A Rey; O Oberlin; J Sanchez de Toledo; M J Terrier-Lacombe; A van Unnik; E Quintana; M C G Stevens Journal: J Clin Oncol Date: 2005-07-01 Impact factor: 44.544
Authors: Gianni Bisogno; Andrea Ferrari; Arcangelo Prete; Chiara Messina; Eleonora Basso; Giovanni Cecchetto; Paolo Indolfi; Giovanni Scarzello; Paolo D'Angelo; Luigi De Sio; Andrea Di Cataldo; Modesto Carli Journal: Eur J Cancer Date: 2009-09-25 Impact factor: 9.162
Authors: Mitalee P Christman; Jennifer K Kerner; Carol Cheng; Adriano Piris; Anne G Nepo; Alireza Sepehr; Daniela Kroshinsky Journal: Pediatr Dermatol Date: 2014-06-09 Impact factor: 1.588
Authors: Marta Colletti; Angela Galardi; Evelina Miele; Virginia Di Paolo; Ida Russo; Cristiano De Stefanis; Rita De Vito; Martina Rinelli; Andrea Ciolfi; Biagio De Angelis; Angelica Zin; Alessandro Guffanti; Maria Cristina Digilio; Antonio Novelli; Rita Alaggio; Giuseppe Maria Milano; Angela Di Giannatale Journal: Int J Mol Sci Date: 2021-05-22 Impact factor: 5.923