Diffuse Leptomeningeal Glioneuronal Tumor with FGFR1 Mutation in a 29-Year-Old Male

This study reports on diffuse leptomeningeal glioneuronal tumor (DL-GNT) in a 29- year-old male. DLGNT is a rare central nervous system (CNS) tumor mostly seen in children and only few cases have been reported in adult patients. Our patient presented with a chronic headache that lasted for five m...

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Main Authors: Minsu Kim, Ki Rim Lee, Gheeyoung Choe, Kihwan Hwang, Jae Hyoung Kim
Format: Article
Language:English
Published: The Korean Society of Radiology 2023-07-01
Series:Journal of the Korean Society of Radiology
Subjects:
Online Access:https://doi.org/10.3348/jksr.2022.0120
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author Minsu Kim
Ki Rim Lee
Gheeyoung Choe
Kihwan Hwang
Jae Hyoung Kim
author_facet Minsu Kim
Ki Rim Lee
Gheeyoung Choe
Kihwan Hwang
Jae Hyoung Kim
author_sort Minsu Kim
collection DOAJ
description This study reports on diffuse leptomeningeal glioneuronal tumor (DL-GNT) in a 29- year-old male. DLGNT is a rare central nervous system (CNS) tumor mostly seen in children and only few cases have been reported in adult patients. Our patient presented with a chronic headache that lasted for five months. MR imaging showed mild hydrocephalus, multiple rim-enhancing nodular lesions in the suprasellar cistern, diffuse leptomeningeal enhancement in the lumbosacral area, and multiple small non-enhancing cyst-appearing lesions not suppressed on fluid attenuated inversion recovery (FLAIR) images in the bilateral basal ganglia, thalami, and cerebral hemispheres. Under the impression of germ cell tumor with leptomeningeal seeding, the patient underwent trans-sphenoidal tumor removal. DL-GNT was pathologically confirmed and FGFR1 mutation was detected through a next-generation sequencing test. In conclusion, a combination of leptomeningeal enhancement and multiple parenchymal non-enhancing cyst-appearing lesions not suppressed on FLAIR images may be helpful for differential diagnosis despite overlapping imaging features with many other CNS diseases that have leptomeningeal enhancement.
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spelling doaj.art-3a83b617fb1d4a8eb939512bb652d3ba2023-07-30T09:48:52ZengThe Korean Society of RadiologyJournal of the Korean Society of Radiology2951-08052023-07-01844970976https://doi.org/10.3348/jksr.2022.0120Diffuse Leptomeningeal Glioneuronal Tumor with FGFR1 Mutation in a 29-Year-Old MaleMinsu KimKi Rim LeeGheeyoung ChoeKihwan HwangJae Hyoung KimThis study reports on diffuse leptomeningeal glioneuronal tumor (DL-GNT) in a 29- year-old male. DLGNT is a rare central nervous system (CNS) tumor mostly seen in children and only few cases have been reported in adult patients. Our patient presented with a chronic headache that lasted for five months. MR imaging showed mild hydrocephalus, multiple rim-enhancing nodular lesions in the suprasellar cistern, diffuse leptomeningeal enhancement in the lumbosacral area, and multiple small non-enhancing cyst-appearing lesions not suppressed on fluid attenuated inversion recovery (FLAIR) images in the bilateral basal ganglia, thalami, and cerebral hemispheres. Under the impression of germ cell tumor with leptomeningeal seeding, the patient underwent trans-sphenoidal tumor removal. DL-GNT was pathologically confirmed and FGFR1 mutation was detected through a next-generation sequencing test. In conclusion, a combination of leptomeningeal enhancement and multiple parenchymal non-enhancing cyst-appearing lesions not suppressed on FLAIR images may be helpful for differential diagnosis despite overlapping imaging features with many other CNS diseases that have leptomeningeal enhancement.https://doi.org/10.3348/jksr.2022.0120brain neoplasmsmeningeal neoplasmscystsmagnetic resonance imagingadult
spellingShingle Minsu Kim
Ki Rim Lee
Gheeyoung Choe
Kihwan Hwang
Jae Hyoung Kim
Diffuse Leptomeningeal Glioneuronal Tumor with FGFR1 Mutation in a 29-Year-Old Male
Journal of the Korean Society of Radiology
brain neoplasms
meningeal neoplasms
cysts
magnetic resonance imaging
adult
title Diffuse Leptomeningeal Glioneuronal Tumor with FGFR1 Mutation in a 29-Year-Old Male
title_full Diffuse Leptomeningeal Glioneuronal Tumor with FGFR1 Mutation in a 29-Year-Old Male
title_fullStr Diffuse Leptomeningeal Glioneuronal Tumor with FGFR1 Mutation in a 29-Year-Old Male
title_full_unstemmed Diffuse Leptomeningeal Glioneuronal Tumor with FGFR1 Mutation in a 29-Year-Old Male
title_short Diffuse Leptomeningeal Glioneuronal Tumor with FGFR1 Mutation in a 29-Year-Old Male
title_sort diffuse leptomeningeal glioneuronal tumor with fgfr1 mutation in a 29 year old male
topic brain neoplasms
meningeal neoplasms
cysts
magnetic resonance imaging
adult
url https://doi.org/10.3348/jksr.2022.0120
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