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Prognostic impact of the multimodal treatment approach in patients with C19MC-altered embryonal tumor with multilayered rosettes. | LitMetric

AI Article Synopsis

  • Embryonal tumor with multilayered rosettes (ETMR) is a rare childhood brain tumor with a very poor prognosis, making effective treatment strategies crucial, but optimal approaches are still unclear due to its low incidence and complexity.
  • In a study involving 4 ETMR patients, varying clinical features were noted, but successful long-term remission was achieved in some through gross-total resection and high-dose chemotherapy, highlighting the significance of surgical and treatment approaches.
  • The findings suggest a link between certain treatment methods, such as high-dose chemotherapy and local irradiation, and improved survival rates, while also emphasizing the need for molecular genetic analysis to better characterize ETMR cases and inform treatment.

Article Abstract

Objective: Embryonal tumor with multilayered rosettes (ETMR) is one of the childhood central nervous system tumors with the poorest prognosis; thus, establishing an optimal treatment strategy is essential, However, because of the low incidence and molecular heterogeneity of the tumor, the optimal treatment has not yet been determined. In this study the authors evaluated the prognostic impact of a multimodal treatment approach in patients with ETMR.

Methods: The authors evaluated 4 patients with ETMR at their institution who showed varied clinical features and also conducted clinical characterization and prognostic analysis of previously reported cases of the ETMR-presenting locus 19q13.42 with a chromosome 19 microRNA cluster (C19MC) amplification, which is known to be a diagnostic hallmark of the tumor.

Results: Of the 4 patients with ETMR in the authors' institution, in 1 case the patient's tumor showed a neuroblastoma-like appearance without multilayered rosettes; however, the diagnosis was confirmed by the presence of amplified C19MC. From a clinical standpoint, 2 patients who underwent gross-total resection (GTR) of the tumor and chemotherapy followed by high-dose chemotherapy (HDC) had long-term complete remission with or without local irradiation. In the multivariate analysis of 43 cases with C19MC-altered ETMR reported in the literature, HDC and local irradiation were significantly correlated with better event-free survival (HR 0.17, p = 0.0087; HR 0.17, p = 0.010) and overall survival (OS) (HR 0.29, p = 0.023; HR 0.28, p = 0.019), respectively. GTR was also correlated with better OS (HR 0.40, p = 0.039).

Conclusions: This case series demonstrated pathological and clinical heterogeneity among ETMR cases and the diagnostic importance of the molecular genetic approach among embryonal tumors, particularly during infancy. Based on the results of the analysis of molecularly uniformed ETMR cases, multimodal treatment may play a significant role in the prognosis of these tumors.

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Source
http://dx.doi.org/10.3171/2022.4.PEDS21542DOI Listing

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