Maria João Gil‐da‐Costa
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View article: ATRT-05. AGE ABOVE 12 MONTHS, ABSENCE OF SYNCHRONOUS, MULTIFOCAL DISEASE AND PATHOGENIC GERMLINE VARIANTS AT C-TERMINI ARE POSITIVE PROGNOSTIC FACTORS IN CHILDREN WITH RTPS1 (RHABDOID-TUMOR-PREDISPOSITION-SYNDROME)
ATRT-05. AGE ABOVE 12 MONTHS, ABSENCE OF SYNCHRONOUS, MULTIFOCAL DISEASE AND PATHOGENIC GERMLINE VARIANTS AT C-TERMINI ARE POSITIVE PROGNOSTIC FACTORS IN CHILDREN WITH RTPS1 (RHABDOID-TUMOR-PREDISPOSITION-SYNDROME) Open
BACKGROUND Rhabdoid-Tumor-Predisposition-Syndrome is due to germline mutations in SMARCB1 (rarely SMARCA4). We pursued a comprehensive clinical and (epi-)genetic characterization of RTPS families. METHODS 90 affected children from 16 count…
View article: MODL-08. PATIENT-DERIVED ORGANOIDS RECAPITULATE THE MOLECULAR LANDSCAPE OF PEDIATRIC BRAIN TUMORS
MODL-08. PATIENT-DERIVED ORGANOIDS RECAPITULATE THE MOLECULAR LANDSCAPE OF PEDIATRIC BRAIN TUMORS Open
BACKGROUND Pediatric brain tumors (PBT) are the leading cause of non-accidental death in pediatric age. These tumors are rare and lack adequate experimental models capable of accurately capturing their complex molecular landscape. METHODS …
View article: Gliomatosis cerebri in children: A poor prognostic phenotype of diffuse gliomas with a distinct molecular profile
Gliomatosis cerebri in children: A poor prognostic phenotype of diffuse gliomas with a distinct molecular profile Open
Background The term gliomatosis cerebri (GC), a radiology-defined highly infiltrating diffuse glioma, has been abandoned since molecular GC-associated features could not be established. Methods We conducted a multinational retrospective st…
View article: High frequency of WNT-activated medulloblastomas with CTNNB1 wild type suggests a higher proportion of hereditary cases in a Latin-Iberian population
High frequency of WNT-activated medulloblastomas with CTNNB1 wild type suggests a higher proportion of hereditary cases in a Latin-Iberian population Open
Purpose Medulloblastomas are the most common primary malignant brain tumors in children. They are divided into molecular subgroups: WNT-activated, SHH-Activated, TP53 mutant or wild type, and non-WNT/non-SHH (Groups 3 and 4). WNT-activated…
View article: HGG-09. GLIOMATOSIS CEREBRI IN CHILDREN: A POOR PROGNOSTIC, HIGHLY INFILTRATIVE PHENOTYPE OF DIFFUSE PEDIATRIC HIGH-GRADE GLIOMAS WITH DISTINCT MOLECULAR FEATURES
HGG-09. GLIOMATOSIS CEREBRI IN CHILDREN: A POOR PROGNOSTIC, HIGHLY INFILTRATIVE PHENOTYPE OF DIFFUSE PEDIATRIC HIGH-GRADE GLIOMAS WITH DISTINCT MOLECULAR FEATURES Open
Gliomatosis cerebri (GC), a radiologically defined highly infiltrating supratentorial glioma, is no longer considered a distinct entity since the 2016 WHO classification for tumors of the central nervous system (CNS). So far, neither progn…
View article: Adrenal carcinoma as the first manifestation of a Li‑Fraumeni syndrome in three paediatric patients
Adrenal carcinoma as the first manifestation of a Li‑Fraumeni syndrome in three paediatric patients Open
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View article: ATRT-05. Infants and newborns with atypical teratoid/rhabdoid tumors (ATRT) and extracranial malignant rhabdoid tumors: a unique and challenging population
ATRT-05. Infants and newborns with atypical teratoid/rhabdoid tumors (ATRT) and extracranial malignant rhabdoid tumors: a unique and challenging population Open
INTRODUCTION: Malignant rhabdoid tumors (MRT) predominantly affect infants. Patients below six months represent a particularly challenging group: intensity of therapy is limited by toxicity to developing organs. Information on prognostic f…
View article: HGG-49. Gliomatosis cerebri in children: A collaborative report from the European Society for Pediatric Oncology (SIOPE)
HGG-49. Gliomatosis cerebri in children: A collaborative report from the European Society for Pediatric Oncology (SIOPE) Open
BACKGROUND: Gliomatosis cerebri (GC), a radiologically defined diffusely infiltrating glioma, is no longer considered a distinct entity since the 2016 WHO classification for tumors of the CNS. Due to its rarity and dismal prognosis treatme…
View article: TBIO-10. NGS molecular profile of paediatric brain tumours: results from 92 consecutive patients treated at Centro Hospitalar Universitário de São João
TBIO-10. NGS molecular profile of paediatric brain tumours: results from 92 consecutive patients treated at Centro Hospitalar Universitário de São João Open
AIM: Our aim was to progress in bringing molecular medicine to routine clinical practice in the setting of paediatric neuro-oncology. We have implemented a protocol between Ipatimup and Centro Hospitalar Universitário de São João for the r…
View article: ATRT-09. Outcome and therapeutic interventions in relapsed and refractory ATRT – The EU-RHAB perspective
ATRT-09. Outcome and therapeutic interventions in relapsed and refractory ATRT – The EU-RHAB perspective Open
Currently an internationally accepted consensus treatment for relapsed/refractory ATRT is missing. Little is known about relapse patterns, prognostic factors and outcome. In a recently published cohort of 143 ATRTs from the EU-RHAB registr…
View article: NFB-13. Rhabdoid Tumor Predisposition Syndrome (RTPS) – Finding Evidence by systematic Analyses
NFB-13. Rhabdoid Tumor Predisposition Syndrome (RTPS) – Finding Evidence by systematic Analyses Open
BACKGROUND: Individuals with rhabdoid tumor predisposition syndrome (RTPS1 – SMARCB1, RTPS2 – SMARCA4) have a propensity to develop malignant rhabdoid tumors (MRT). Affected patients typically present < age 12 months with synchronous tu…
View article: Infants and Newborns with Atypical Teratoid Rhabdoid Tumors (ATRT) and Extracranial Malignant Rhabdoid Tumors (eMRT) in the EU-RHAB Registry: A Unique and Challenging Population
Infants and Newborns with Atypical Teratoid Rhabdoid Tumors (ATRT) and Extracranial Malignant Rhabdoid Tumors (eMRT) in the EU-RHAB Registry: A Unique and Challenging Population Open
Introduction: Malignant rhabdoid tumors (MRT) predominantly affect infants and young children. Patients below six months of age represent a particularly therapeutically challenging group. Toxicity to developing organ sites limits intensity…
View article: Clinical evidence for a biological effect of epigenetically active decitabine in relapsed or progressive rhabdoid tumors
Clinical evidence for a biological effect of epigenetically active decitabine in relapsed or progressive rhabdoid tumors Open
Background Refined therapy has helped to improve survival rates in rhabdoid tumors (RT). Prognosis for patients with chemoresistant, recurrent, or progressive RT remains dismal. Although decitabine, an epigenetically active agent, has main…
View article: Therapeutic implications of improved molecular diagnostics for rare CNS embryonal tumor entities: results of an international, retrospective study
Therapeutic implications of improved molecular diagnostics for rare CNS embryonal tumor entities: results of an international, retrospective study Open
Background Only few data are available on treatment-associated behavior of distinct rare CNS embryonal tumor entities previously treated as “CNS-primitive neuroectodermal tumors” (CNS-PNET). Respective data on specific entities, including …
View article: Desensitization to carboplatin in low‐grade glioma. A revision of 100 treatments in children
Desensitization to carboplatin in low‐grade glioma. A revision of 100 treatments in children Open
The authors declare no conflicts of interest.
View article: ETMR-22. TITLE: DEFINING THE CLINICAL AND PROGNOSTIC LANDSCAPE OF EMBRYONAL TUMORS WITH MULTI-LAYERED ROSETTES (ETMRs), A RARE BRAIN TUMOR REGISTRY (RBTC) STUDY
ETMR-22. TITLE: DEFINING THE CLINICAL AND PROGNOSTIC LANDSCAPE OF EMBRYONAL TUMORS WITH MULTI-LAYERED ROSETTES (ETMRs), A RARE BRAIN TUMOR REGISTRY (RBTC) STUDY Open
ETMR, an aggressive disease characterised by C19MC alterations, were previously categorised as various histologic diagnoses. The clinical spectrum and impact of conventional multi-modal therapy on this new WHO diagnostic category remains p…
View article: Clinical phenotypes and prognostic features of ETMRs (Embryonal Tumor with Multi-layered Rosettes) a new CNS tumor entity: A Rare Brain Tumor Registry study
Clinical phenotypes and prognostic features of ETMRs (Embryonal Tumor with Multi-layered Rosettes) a new CNS tumor entity: A Rare Brain Tumor Registry study Open
Background ETMRs are a newly recognized rare paediatric brain tumor with alterations of the C19MC microRNA locus. Due to varied diagnostic practices and limited clinical data, disease features and determinants of outcome are poorly defined…
View article: Age and DNA methylation subgroup as potential independent risk factors for treatment stratification in children with atypical teratoid/rhabdoid tumors
Age and DNA methylation subgroup as potential independent risk factors for treatment stratification in children with atypical teratoid/rhabdoid tumors Open
Background Controversy exists as to what may be defined as standard of care (including markers for stratification) for patients with atypical teratoid/rhabdoid tumors (ATRTs). The European Rhabdoid Registry (EU-RHAB) recruits uniformly tre…