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Extra-neural metastases in pediatric diffuse midline gliomas, H3 K27-altered: presentation of two cases and literature review.
De Martino, Lucia; Picariello, Stefania; Russo, Carmela; Errico, Maria Elena; Spennato, Pietro; Papa, Maria Rosaria; Normanno, Nicola; Scimone, Giuseppe; Colafati, Giovanna Stefania; Cacchione, Antonella; Mastronuzzi, Angela; Massimino, Maura; Cinalli, Giuseppe; Quaglietta, Lucia.
Afiliación
  • De Martino L; Neurooncology Unit, Department of Pediatric Oncology, Santobono-Pausilipon Children's Hospital, Naples, Italy.
  • Picariello S; Neurooncology Unit, Department of Pediatric Oncology, Santobono-Pausilipon Children's Hospital, Naples, Italy.
  • Russo C; Neuroradiology Unit, Department of Neurosciences, Santobono-Pausilipon Children's Hospital, Naples, Italy.
  • Errico ME; Patology Unit, Department of Pathology, Santobono-Pausilipon Children's Hospital, Naples, Italy.
  • Spennato P; Pediatric Neurosurgery Unit, Department of Pediatric Neurosciences, Santobono-Pausilipon Children's Hospital, Naples, Italy.
  • Papa MR; Department of Paediatric Haematology/Oncology, Cell Therapy, A.O.R.N. Santobono-Pausilipon, Naples, Italy.
  • Normanno N; Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori-IRCCS "Fondazione G. Pascale", Naples, Italy.
  • Scimone G; Radiotherapy Unit, AOU San Giovanni di Dio e Ruggi d'Aragona, Salerno, Italy.
  • Colafati GS; Oncological Neuroradiology Unit, Department of Imaging, Istituto di Ricovero e Cura a Carattere Scientifico, Bambino Gesù Children's Hospital, Rome, Italy.
  • Cacchione A; Neurooncology Unit, Department of Paediatric Haematology/Oncology, Cell and Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico, Bambino Gesù Children's Hospital, Rome, Italy.
  • Mastronuzzi A; Neurooncology Unit, Department of Paediatric Haematology/Oncology, Cell and Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico, Bambino Gesù Children's Hospital, Rome, Italy.
  • Massimino M; Pediatric Oncology, Fondazione IRCCS-Istituto Nazionale dei Tumori, Milan, Italy.
  • Cinalli G; Pediatric Neurosurgery Unit, Department of Pediatric Neurosciences, Santobono-Pausilipon Children's Hospital, Naples, Italy.
  • Quaglietta L; Neurooncology Unit, Department of Pediatric Oncology, Santobono-Pausilipon Children's Hospital, Naples, Italy.
Front Mol Neurosci ; 16: 1152430, 2023.
Article en En | MEDLINE | ID: mdl-37547920
Introduction: Pediatric diffuse midline gliomas (DMG), H3 K27- altered, are the most aggressive pediatric central nervous system (CNS) malignancies. Disease outcome is dismal with a median survival of less than one year. Extra-neural metastases are an unusual occurrence in DMG and have been rarely described. Methods and results: Here, we report on two pediatric patients affected by DMG with extra-neural dissemination. Their clinical, imaging, and molecular characteristics are reported here. An 11-year-old male 5 months after the diagnosis of diffuse intrinsic pontine glioma (DIPG) developed metastatic osseous lesions confirmed with computed tomography (CT) guided biopsy of the left iliac bone. The patient died one month after the evidence of metastatic progression. Another 11-year-old female was diagnosed with a cerebellar H3K27- altered DMG. After six months, she developed diffuse sclerotic osseous lesions. A CT-guided biopsy of the right iliac bone was non-diagnostic. She further developed multifocal chest and abdominal lymphadenopathy and pleural effusions. Droplet digital polymerase chain reaction (ddPCR) on pleural effusion revealed the presence of H3.3A mutation (c.83A>T, p.K28M). The patient died 24 months after the diagnosis of DMG and 3 months after the evidence of metastatic pleural effusion. Discussion: Extra-neural metastasis of DMG is a rare event and no standard therapy exists. An accurate and early diagnosis is necessary in order to develop a personalized plan of treatment. Further research is needed to gain further insights into the molecular pathology of DMG, H3K27- altered and improve the quality of life and the final outcome of patients with this deadly disease.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Qualitative_research / Screening_studies Aspecto: Patient_preference Idioma: En Revista: Front Mol Neurosci Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Qualitative_research / Screening_studies Aspecto: Patient_preference Idioma: En Revista: Front Mol Neurosci Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza