Unusual radiological and histological presentation of a diffuse leptomeningeal glioneuronal tumor (DLGNT) in a 13-year-old girl

Authors

Nishant Tiwari, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, 90027, USA.Follow
Benita Tamrazi, Department of Radiology, Neuroradiology, Children's Hospital Los Angeles, Los Angeles, CA, 90027, USA.
Nathan Robison, Department of Pediatrics, Neuro-oncology, Children's Hospital Los Angeles, Los Angeles, CA, 90027, USA.
Mark Krieger, Department of Surgery, Neurosurgery, Children's Hospital Los Angeles, Los Angeles, CA, 90027, USA.
Jianling Ji, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, 90027, USA.
Di Tian, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, 90027, USA. ditian118@gmail.com.

Document Type

Article

Abstract

Diffuse leptomeningeal glioneuronal tumors (DLGNTs) are newly recognized as an entity in the 2016 revision of the WHO Classification of tumors of the central nervous system. They typically present as diffuse leptomeningeal infiltrates along the neuraxis with focal and superficial involvement of the parenchyma. Here, we report a DLGNT with unusual radiological and histological features. A 13-year-old girl presented with scoliosis and back pain. Magnetic resonance imaging demonstrated a syrinx from C2 to T11 and an intramedullary mass from T6 to T9-10. No leptomeningeal involvement was recognized. Histological examination of the gross total resection specimen revealed a low-grade neuroepithelial neoplasm predominantly infiltrating the spinal cord and only focally involving the leptomeninges. Chromosome microarray identified co-deletion of the short arm of chromosome 1 and the long arm of chromosome 19 as well as fusion of the KIAA1549 and BRAF genes. Next-generation sequencing demonstrated wild-type alleles at the mutational hotspots of IDH1 (R132) and IDH2 (R140 and R172). In contrast to most reported DLGNTs, the tumor described in this manuscript was characterized by a predominant parenchymal component and only minor leptomeningeal involvement both radiographically and histologically. Our case, therefore, expands the spectrum of radiological and histopathological features of this new entity. It also highlights the critical role of molecular genetic testing in establishing the diagnosis of DLGNT in unusual cases.

Medical Subject Headings

Adolescent; Alleles; Chromosome Deletion; Female; Gene Frequency; Glioma (diagnostic imaging, genetics, pathology); Humans; Magnetic Resonance Imaging; Meningeal Neoplasms (diagnostic imaging, genetics, pathology); Mutation

Publication Date

9-1-2019

Publication Title

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

E-ISSN

1433-0350

Volume

35

Issue

9

First Page

1609

Last Page

1614

PubMed ID

30770994

Digital Object Identifier (DOI)

10.1007/s00381-019-04074-7

Recommended Citation

Tiwari, Nishant; Tamrazi, Benita; Robison, Nathan; Krieger, Mark; Ji, Jianling; and Tian, Di, "Unusual radiological and histological presentation of a diffuse leptomeningeal glioneuronal tumor (DLGNT) in a 13-year-old girl" (2019). Neuropathology. 16.
https://scholar.barrowneuro.org/neuropathology/16