Localised rhabdomyosarcoma in infants (&lt;12 months) and young children (12–36 months of age) treated on the EpSSG RMS 2005 study

Slater, Olga; Gains, J.; Kelsey, Anna; Corti, Federica De; Zanetti, Ilaria; Coppadoro, Beatrice; Jørgensen, Mette; Gallego, Soledad; Orbach, Daniel; Glosli, Heidi; Cesen, Maja; Gaze, Mark; Smeulders, Naima; Ferrari, Andrea; Jenney, Meriel; Minard‐Colin, Véronique; Bisogno, Gianni; Merks, Johannes H. M.

doi:10.1016/j.ejca.2021.10.031

Cited by 12 publications

(38 citation statements)

References 15 publications

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“…The Children’s Oncology Group’s (COG) Intergroup Rhabdomyosarcoma Studies (IRS) and ARST studies, the Italian Cooperative Group (ICG), the International Society of Pediatric Oncology’s (SIOP) Malignant Mesenchymal Tumor (MMT) studies, the Cooperative Weichteilsarkom Studiengruppe (CWS), and the European pediatric Soft tissue sarcoma Study Group’s (EpSSG) RMS2005 studies have reported on the clinical characteristics of infants with RMS ( Table 1 ) [ 1 , 4 , 7 , 8 , 9 , 11 , 12 ].…”

Section: Clinicopathologic Characteristicsmentioning

confidence: 99%

“…Studies have shown that embryonal RMS (ERMS) and alveolar RMS (ARMS) represent 69–87% and 13–31% of RMS diagnoses among infants, respectively. Specifically, the EpSSG RMS2005 study identified a significantly lower proportion of ARMS among infants than older children [ 9 ]. In contrast, data from the ARST studies and the surveillance, epidemiology, and end results (SEER) program did not identify any significant difference in the histologic subtype of RMS between infants and older children [ 7 , 11 , 15 ].…”

Section: Clinicopathologic Characteristicsmentioning

confidence: 99%

“…Botryoid and spindle-cell RMS (SRMS) are also relatively more common among infants than older children [ 8 , 10 ]. SRMS has been reported in 10–22% of infants with RMS [ 9 , 16 ]. A few studies have attempted to evaluate the unique genomic features of infantile RMS.…”

Section: Clinicopathologic Characteristicsmentioning

confidence: 99%

“…While most RMS cases occur in children and adolescents, a subset of these tumors known as infantile RMS occur in children under one year of age, and a subset known as congenital RMS occur among infants under 1 or 2 months of age [ 1 , 2 , 3 ]. Infantile and congenital RMS are distinct, given these patients’ differing clinical characteristics and outcomes compared to older children with RMS [ 1 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 ]. In addition, infants with RMS have unique management challenges, given the technical difficulties of surgery and increased toxicity from chemotherapy and radiotherapy [ 2 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

“…Infantile and congenital RMS are distinct, given these patients’ differing clinical characteristics and outcomes compared to older children with RMS [ 1 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 ]. In addition, infants with RMS have unique management challenges, given the technical difficulties of surgery and increased toxicity from chemotherapy and radiotherapy [ 2 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 ]. In this article, we will review the epidemiology, clinical characteristics, management, and outcomes of infants with RMS and will focus on the unique aspects of RMS in infants compared to RMS occurring in older children.…”

Section: Introductionmentioning

confidence: 99%

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Clinical Characteristics, Treatment Considerations, and Outcomes of Infants with Rhabdomyosarcoma

Yan

Venkatramani

Bradley

et al. 2023

Cancers

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RMS most commonly presents in children and adolescents, however a subset of tumors are diagnosed in infants under one year of age. Due to the rarity of infant RMS, utilization of different treatment approaches and goals, and small sample sizes, the published studies of infants with RMS have yielded heterogeneous results. In this review, we discuss the outcomes of infants with RMS treated in various clinical trials and the strategies that various international cooperative groups have employed to reduce the morbidity and mortality related to treatment without compromising the overall survival of this population. This review discusses the unique scenarios of diagnosing and managing congenitals or neonatal RMS, spindle cell RMS and relapsed RMS. This review concludes by exploring novel approaches to diagnosis and management of infants with RMS that are currently being studied by various international cooperative groups.

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Section: Clinicopathologic Characteristicsmentioning

confidence: 99%

Section: Clinicopathologic Characteristicsmentioning

confidence: 99%

Section: Clinicopathologic Characteristicsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Clinical Characteristics, Treatment Considerations, and Outcomes of Infants with Rhabdomyosarcoma

Yan

Venkatramani

Bradley

et al. 2023

Cancers

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FGFR1 fusions as a novel molecular driver in rhabdomyosarcoma

de Traux De Wardin,

Cyrta,

Dermawan

et al. 2024

Genes Chromosomes & Cancer

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The wide application of RNA sequencing in clinical practice has allowed the discovery of novel fusion genes, which have contributed to a refined molecular classification of rhabdomyosarcoma (RMS). Most fusions in RMS result in aberrant transcription factors, such as PAX3/7::FOXO1 in alveolar RMS (ARMS) and fusions involving VGLL2 or NCOA2 in infantile spindle cell RMS. However, recurrent fusions driving oncogenic kinase activation have not been reported in RMS. Triggered by an index case of an unclassified RMS (overlapping features between ARMS and sclerosing RMS) with a novel FGFR1::ANK1 fusion, we reviewed our molecular files for cases harboring FGFR1‐related fusions. One additional case with an FGFR1::TACC1 fusion was identified in a tumor resembling embryonal RMS (ERMS) with anaplasia, but with no pathogenic variants in TP53 or DICER1 on germline testing. Both cases occurred in males, aged 7 and 24, and in the pelvis. The 2nd case also harbored additional alterations, including somatic TP53 and TET2 mutations. Two additional RMS cases (one unclassified, one ERMS) with FGFR1 overexpression but lacking FGFR1 fusions were identified by RNA sequencing. These two cases and the FGFR1::TACC1‐positive case clustered together with the ERMS group by RNAseq. This is the first report of RMS harboring recurrent FGFR1 fusions. However, it remains unclear if FGFR1 fusions define a novel subset of RMS or alternatively, whether this alteration can sporadically drive the pathogenesis of known RMS subtypes, such as ERMS. Additional larger series with integrated genomic and epigenetic datasets are needed for better subclassification, as the resulting oncogenic kinase activation underscores the potential for targeted therapy.

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Second‐line treatment of pediatric patients with relapsed rhabdomyosarcoma adapted to initial risk stratification: Data of the European Soft Tissue Sarcoma Registry (SoTiSaR)

Heinz,

Ebinger,

Schönstein

et al. 2023

Pediatric Blood & Cancer

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Background Outcome of relapsed disease of localized rhabdomyosarcoma remains poor. An individual treatment approach considering the initial systemic treatment and risk group was included in the Cooperative Weichteilsarkom Studiengruppe (CWS) Guidance. Methods Second‐line chemotherapy (sCHT) ACCTTIVE based on anthracyclines (adriamycin, carboplatin, cyclophosphamide, topotecan, vincristine, etoposide) was recommended for patients with initial low‐ (LR), standard‐ (SR), and high‐risk (HR) group after initial treatment without anthracyclines. TECC (topotecan, etoposide, carboplatin, cyclophosphamide) was recommended after initial anthracycline‐based regimen in the very high‐risk (VHR) group. Data of patients with relapse (n = 68) registered in the European Soft Tissue Sarcoma Registry SoTiSaR (2009–2018) were retrospectively analyzed. Results Patients of initial LR (n = 2), SR (n = 16), HR (n = 41), and VHR (n = 9) group relapsed. sCHT consisted of ACCTTIVE (n = 36), TECC (n = 12), or other (n = 15). Resection was performed in 40/68 (59%) patients and/or radiotherapy in 47/68 (69%). Initial risk stratification, pattern/time to relapse, and achievement of second complete remission were significant prognostic factors. Microscopically incomplete resection with additional radiotherapy was not inferior to microscopically complete resection (p = .17). The 5‐year event‐free survival (EFS) and overall survival (OS) were 26% (±12%) and 31% (±14%). The 5‐year OS of patients with relapse of SR, HR, and VHR groups was 80% (±21%), 20% (±16%), and 13% (±23%, p = .008), respectively. Conclusion Adapted systemic treatment of relapsed disease considering the initial risk group and initial treatment is reasonable. New treatment options are needed for patients of initial HR and VHR groups.

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Localised rhabdomyosarcoma in infants (<12 months) and young children (12–36 months of age) treated on the EpSSG RMS 2005 study

Cited by 12 publications

References 15 publications

Clinical Characteristics, Treatment Considerations, and Outcomes of Infants with Rhabdomyosarcoma

Clinical Characteristics, Treatment Considerations, and Outcomes of Infants with Rhabdomyosarcoma

FGFR1 fusions as a novel molecular driver in rhabdomyosarcoma

Second‐line treatment of pediatric patients with relapsed rhabdomyosarcoma adapted to initial risk stratification: Data of the European Soft Tissue Sarcoma Registry (SoTiSaR)

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