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Paediatric diffuse leptomeningeal tumor with glial and neuronal differentiation harbouring chromosome 1p/19q co-deletion and H3.3 K27M mutation: unusual molecular profile and its therapeutic implications
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Paediatric diffuse leptomeningeal tumor with glial and neuronal differentiation harbouring chromosome 1p/19q co-deletion and H3.3 K27M mutation: unusual molecular profile and its therapeutic implications
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Paediatric diffuse leptomeningeal tumor with glial and neuronal differentiation harbouring chromosome 1p/19q co-deletion and H3.3 K27M mutation: unusual molecular profile and its therapeutic implications
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Journal Article
Paediatric diffuse leptomeningeal tumor with glial and neuronal differentiation harbouring chromosome 1p/19q co-deletion and H3.3 K27M mutation: unusual molecular profile and its therapeutic implications
2018
Overview
Diffuse leptomeningeal glioneuronal tumor (DL-GNT) is a newly introduced tumor entity of uncertain prognosis characterised by a primary diffuse leptomeningeal growth pattern, oligodendroglial-like morphology and dual glial/neuronal differentiation. Predominantly occurring in children, these tumors present as chronic meningitis and mimic infectious/inflammatory diseases. They are surgically challenging tumors with a high incidence of delayed morbidity and mortality despite low-grade histology. Their molecular genetic profile is not fully elucidated and few reports have identified chromosome 1p and 19q deletions, and
BRAF
alterations. We present a rare instance of a DL-GNT in a 13-year-old female who presented with slowly progressive and sequential neurological deficits over a 12-month duration. Imaging showed leptomeningeal thickening and spinal lesions. Biopsy from the spinal mass showed histomorphological features characteristic of DL-GNT. Further molecular analysis revealed 1p and 19q co-deletion and
H3K27M
mutation, while no mutation were identified in
IDH, TERT
, or
BRAF
genes. Patient died 4 months after diagnosis. Only one previous case of DL-GNT has been reported to harbour
H3K27M
mutation. Although
H3K27M
mutations have been described in rare examples of low-grade glial and glioneuronal tumors, whether DL-GNTs with
H3K27M
represent a rare growth pattern of the aggressive
H3K27M
-mutant diffuse midline gliomas needs further clarification.
Publisher
Springer Singapore,Springer Nature B.V
Subject
/ Biopsy
/ Cell Transformation, Neoplastic - genetics
/ Chromosomes, Human, Pair 1 - genetics
/ Chromosomes, Human, Pair 19 - genetics
/ Female
/ Glioma
/ Humans
/ Medicine
/ Meningeal Neoplasms - genetics
/ Meningeal Neoplasms - pathology
/ Meningeal Neoplasms - therapy
/ Mutation
/ Oligodendroglioma - genetics
/ Oligodendroglioma - pathology
/ Oncology
/ Patients
/ Proteins
/ Tumors
