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

Brain Tumor Pathology
Aruna NambirajanMehar Chand Sharma

Abstract

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 ...Continue Reading

References

Apr 29, 2014·Brain Tumor Pathology·Hwa Jin ChoSung-Hye Park
Nov 13, 2014·Neuropathology and Applied Neurobiology·Anh Tuan NguyenUNKNOWN French GENOP Network
Aug 16, 2016·Acta Neuropathologica Communications·Cordelia OrillacMatija Snuderl
Apr 7, 2017·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Vega KarloweeFumiyuki Yamasaki

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Citations

Jan 4, 2020·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Wenlin ChenYu Wang
Aug 9, 2020·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Vinicius Fernandes OliveiraElvis Terci Valera
Sep 30, 2020·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Ralph E NavarroEveline Teresa Hidalgo
Nov 1, 2020·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Miguel Sáez-AlegreFernando Carceller Benito
Sep 2, 2021·CNS Oncology·Tanvi NadkarniUgur Sener
Jan 4, 2022·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Weiqin ChengXiao Fan

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