Clinicopathological and molecular characterization of a case classified by DNA­methylation profiling as "CNS embryonal tumor with BRD4-LEUTX fusion".

Central Nervous System (CNS) embryonal tumors represent a heterogeneous group of highly aggressive tumors occurring preferentially in children but also described in adolescents and adults. In 2021, the CNS World Health Organization (WHO) classification drastically changed the diagnosis of the other CNS embryonal tumors including new histo-molecular tumor types. Here, we report a pediatric case of a novel tumor type among the other CNS embryonal tumors classified within the methylation class "CNS Embryonal Tumor with BRD4-LEUTX Fusion". The patient was a 4-year girl with no previous history of disease. For a few weeks, she suffered from headaches, vomiting and mild fever associated with increasing asthenia and loss of weight leading to a global deterioration of health. MRI brain examination revealed a large, grossly well-circumscribed tumoral mass lesion located in the left parietal lobe, contralateral hydrocephalus and midline shift. Microscopic examination showed a highly cellular tumor with a polymorphic aspect. The majority of the tumor harbored neuroectodermal features composed of small cells with scant cytoplasm and hyperchromatic nuclei associated with small "medulloblastoma-like" cells characterized by syncytial arrangement and focally a streaming pattern. Tumor cells were diffusely positive for Synaptophysin, CD56, INI1 and SMARCA4 associated with negativity for GFAP, OLIG-2, EMA, BCOR, LIN28A and MIC-2. Additional IHC features included p53 protein expression in more than 10% of the tumor's cells and very interestingly, loss of H3K27me3 expression. The Heidelberg DNA-methylation classifier classified this case as "CNS Embryonal Tumor with BRD4:LEUTX Fusion". RNA-sequencing analyses confirmed the BRD4 (exon 13)-LEUTX (exon 2) fusion with no other molecular alterations found by DNA sequencing. Our case report confirmed that a new subgroup of CNS embryonal tumor with high aggressive potential, loss of H3K27me3 protein expression, BRDA4-LEUTX fusion, named "Embryonal CNS tumor with BRD4-LEUTX fusion", has to be considered into the new CNS WHO classification.

Bevacizumab as Single Agent in Children and Teenagers with Optic Pathway Glioma.

This is a retrospective study conducted on patients with OPG, aged less than 19 years, treated with bevacizumab as a single agent, since 2010 at IHOPe (Institute of Pediatric Hematology and Oncology). Efficacy of the treatment was evaluated on the tumor response rate on MRI with a centralized review basing upon RAPNO criteria and with visual assessment basing upon a 0.2 log change in the logMAR scale. Thirty-one patients with OPG have been included. From a radiological point of view, best anytime responses were: 1 major response, 6 partial responses, 7 minor responses and 14 stable diseases; achieving disease control in 28 (96%) out of 29 patients. Ophthalmological response was evaluated in 25 patients and disease control was achieved in 22 (88%) out of 25, with 14 steady states and 8 significant improvements. Among patients treated with chemotherapy after the bevacizumab course, nine relapsed and have been retreated with objective responses. Bevacizumab used as single agent seems effective in children and adolescents with OPG. Our work paves the way for a phase II study in which bevacizumab alone could be used as frontline therapy.

Health Workers' Perception and Emotions Surrounding Teleconsultation in Pediatric Cancer Care During the COVID-19 Pandemic.

BACKGROUND AND AIMS: During the first lockdown of the coronavirus disease 2019 (COVID-19) pandemic, we developed a teleconsultation model and conducted a survey-based study with the aim to evaluate satisfaction and emotions of health workers (HWs), to assess the feasibility of teleconsultations, and to evaluate technical issues. MATERIALS AND METHODS: This is a prospective monocentric exploratory study based on synchronous, video consultations between HWs and pediatric patients treated for blood or solid malignancies or blood benign diseases. Every HW completed an online survey which covered technical aspects, data concerning satisfaction, quality of the interaction with the patient, and emotions felt after the teleconsultation. A score was calculated for each aspect. RESULTS: Eleven specialists participated in the study, and we selected 84 questionnaires. With a satisfaction rate of 74%, HWs felt mostly calm (80%), relaxed (70%), stress-free (69%), and relieved (65%). We calculated the following median scores: an overall satisfaction score of 6.67 (0 to 10), a global feeling score of 8.79 (3.33 to 10.00), and a quality score of 7.34 (2.50 to 10.00). A strong correlation between the quality of teleconsultation and the satisfaction of the HWs has been highlighted ( r =0.588). CONCLUSION: Our series is an encouragingly positive experience from the perspective of the HWs, their feelings, and perceptions.