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Diffuse leptomeningeal glioneuronal tumor: a double misnomer? A report of two cases.
Acta Neuropathol Commun. 2020 06 30; 8(1):95.AN

Abstract

Diffuse leptomeningeal glioneuronal tumor (DLGNT) was introduced, for the first time, as a provisional entity in the 2016 WHO classification of central nervous system tumors. DLGNT mainly occur in children and characterized by a widespread leptomeningeal growth occasionally associated with intraspinal tumor nodules, an oligodendroglial-like cytology, glioneuronal differentiation and MAP-Kinase activation associated with either solitary 1p deletion or 1p/19q codeletion in the absence of IDH mutation.We report here two unexpected DLGNTs adult cases, characterized by a unique supratentorial circumscribed intraparenchymal tumor without leptomeningeal involvement in spite of long follow-up. In both cases, the diagnosis of DLGNT was made after DNA-methylation profiling which demonstrated that one case belonged to the DLGNT class whereas the other remained not classifiable but showed on CNV the characteristic genetic findings recorded in DLGNT. Both cases harbored 1p/19q codeletion associated with KIAA1549:BRAF fusion in one case and with BRAF V600E and PIK3CA E545A mutations, in the other.Our study enlarges the clinical and molecular spectrum of DLGNTs, and points out that the terminology of DLGNTs is not fully appropriate since some cases could have neither diffuse growth nor leptomeningeal dissemination. This suggests that DLGNTs encompass a wide spectrum of tumors that has yet to be fully clarified.

Authors+Show Affiliations

APHM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France. Aix-Marseille Univ, CNRS, INP, Inst Neurophysiopathol, Marseille, France.Université Paris Descartes, Sorbonne Paris Cité, Paris, France. Service de Neuropathologie, GHU Paris - Hôpital Sainte-Anne, Paris, France. Equipe SiRIC RTOP Recherche Translationelle en Oncologie Pédiatrique, Institut Curie, Paris, France. INSERM U830, Laboratoire de Génétique et Biologie des Cancers, Institut Curie, Paris, France. SIREDO: Care, Innovation and Research for Children, Adolescents and Young Adults with Cancer, Institut Curie, Paris, France.Aix-Marseille Univ, CNRS, INP, Inst Neurophysiopathol, Marseille, France.Hopp Children's Cancer Center Heidelberg (KiTZ), 69120, Heidelberg, Germany. Pediatric Glioma Research Group, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany.Université Paris Descartes, Sorbonne Paris Cité, Paris, France. Service de Neuropathologie, GHU Paris - Hôpital Sainte-Anne, Paris, France. INSERM UMR 1266, IMA-Brain, Institut de Psychiatrie et de Neurosciences de Paris, Paris, France.APHM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France. dominiquefrance.figarella@ap-hm.fr. Aix-Marseille Univ, CNRS, INP, Inst Neurophysiopathol, Marseille, France. dominiquefrance.figarella@ap-hm.fr.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

32605662

Citation

Appay, Romain, et al. "Diffuse Leptomeningeal Glioneuronal Tumor: a Double Misnomer? a Report of Two Cases." Acta Neuropathologica Communications, vol. 8, no. 1, 2020, p. 95.
Appay R, Pages M, Colin C, et al. Diffuse leptomeningeal glioneuronal tumor: a double misnomer? A report of two cases. Acta Neuropathol Commun. 2020;8(1):95.
Appay, R., Pages, M., Colin, C., Jones, D. T. W., Varlet, P., & Figarella-Branger, D. (2020). Diffuse leptomeningeal glioneuronal tumor: a double misnomer? A report of two cases. Acta Neuropathologica Communications, 8(1), 95. https://doi.org/10.1186/s40478-020-00978-7
Appay R, et al. Diffuse Leptomeningeal Glioneuronal Tumor: a Double Misnomer? a Report of Two Cases. Acta Neuropathol Commun. 2020 06 30;8(1):95. PubMed PMID: 32605662.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diffuse leptomeningeal glioneuronal tumor: a double misnomer? A report of two cases. AU - Appay,Romain, AU - Pages,Mélanie, AU - Colin,Carole, AU - Jones,David T W, AU - Varlet,Pascale, AU - Figarella-Branger,Dominique, Y1 - 2020/06/30/ PY - 2020/05/07/received PY - 2020/06/22/accepted PY - 2020/7/2/entrez PY - 2020/7/2/pubmed PY - 2020/7/2/medline KW - Adult KW - BRAFV600E mutation KW - DLGNT KW - DNA-methylation profiling KW - Supratentorial SP - 95 EP - 95 JF - Acta neuropathologica communications JO - Acta Neuropathol Commun VL - 8 IS - 1 N2 - Diffuse leptomeningeal glioneuronal tumor (DLGNT) was introduced, for the first time, as a provisional entity in the 2016 WHO classification of central nervous system tumors. DLGNT mainly occur in children and characterized by a widespread leptomeningeal growth occasionally associated with intraspinal tumor nodules, an oligodendroglial-like cytology, glioneuronal differentiation and MAP-Kinase activation associated with either solitary 1p deletion or 1p/19q codeletion in the absence of IDH mutation.We report here two unexpected DLGNTs adult cases, characterized by a unique supratentorial circumscribed intraparenchymal tumor without leptomeningeal involvement in spite of long follow-up. In both cases, the diagnosis of DLGNT was made after DNA-methylation profiling which demonstrated that one case belonged to the DLGNT class whereas the other remained not classifiable but showed on CNV the characteristic genetic findings recorded in DLGNT. Both cases harbored 1p/19q codeletion associated with KIAA1549:BRAF fusion in one case and with BRAF V600E and PIK3CA E545A mutations, in the other.Our study enlarges the clinical and molecular spectrum of DLGNTs, and points out that the terminology of DLGNTs is not fully appropriate since some cases could have neither diffuse growth nor leptomeningeal dissemination. This suggests that DLGNTs encompass a wide spectrum of tumors that has yet to be fully clarified. SN - 2051-5960 UR - https://www.unboundmedicine.com/medline/citation/32605662/Diffuse_leptomeningeal_glioneuronal_tumor:_a_double_misnomer_A_report_of_two_cases L2 - https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-020-00978-7 DB - PRIME DP - Unbound Medicine ER -
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