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Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1 by Abigail K. Suwala; Damian Stichel; Daniel Schrimpf; Sybren L. N. Maas; Martin Sill; Hildegard Dohmen; Rouzbeh Banan; Annekathrin Reinhardt; Philipp Sievers; Felix Hinz; Mirjam Blattner-Johnson; Christian Hartmann; Leonille Schweizer; Henning B. Boldt; Bjarne Winther Kristensen; Jens Schittenhelm; Matthew D. Wood; Guillaume Chotard; Rolf Bjergvig; Anirban Das; Uri Tabori; Martin Hasselblatt; Andrey Korshunov; Zied Abdullaev; Martha Quezado; Kenneth Aldape; Patrick N. Harter; Matija Snuderl; Jürgen Hench; Stephan Frank; Till Acker; Sebastian Brandner; Frank Winkler; Pieter Wesseling; Stefan M. Pfister; David E. Reuss; Wolfgang Wick; Andreas von Deimling; David T. W. Jones; Felix Sahm is a Medicine article available to read on EtoBox.

What is Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1 about?

Glioblastoma IDH-wildtype presents with a wide histological spectrum. Some features are so distinctive that they are considered as separate histological variants or patterns for the purpose of classification. However, these usually lack defined (epi-)genetic alterations or profiles correlating with this histology. Here, we describe a molecular subtype with overlap to the unique histological pattern of glioblastoma with primitive neuronal component. Our cohort consists of 63 IDH-wildtype glioblastomas that harbor a characteristic DNA methylation profile. Median age at diagnosis was 59.5 years. Copy-number variations and genetic sequencing revealed frequent alterations in __TP53__, __RB1__ and __PTEN,__ with fewer gains of chromosome 7 and homozygous __CDKN2A/B__ deletions than usually described for IDH-wildtype glioblastoma. Gains of chromosome 1 were detected in more than half of the cases. A poorly differentiated phenotype with frequent absence of GFAP expression, high proliferation index and strong staining for p53 and TTF1 often caused misleading histological classification as carcinoma metastasis or primitive neuroectodermal tumor. Clinically, many patients presented with lepto

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Author

Abigail K. Suwala; Damian Stichel; Daniel Schrimpf; Sybren L. N. Maas; Martin Sill; Hildegard Dohmen; Rouzbeh Banan; Annekathrin Reinhardt; Philipp Sievers; Felix Hinz; Mirjam Blattner-Johnson; Christian Hartmann; Leonille Schweizer; Henning B. Boldt; Bjarne Winther Kristensen; Jens Schittenhelm; Matthew D. Wood; Guillaume Chotard; Rolf Bjergvig; Anirban Das; Uri Tabori; Martin Hasselblatt; Andrey Korshunov; Zied Abdullaev; Martha Quezado; Kenneth Aldape; Patrick N. Harter; Matija Snuderl; Jürgen Hench; Stephan Frank; Till Acker; Sebastian Brandner; Frank Winkler; Pieter Wesseling; Stefan M. Pfister; David E. Reuss; Wolfgang Wick; Andreas von Deimling; David T. W. Jones; Felix Sahm

Publisher

Springer Science and Business Media LLC

Published

2021

Language

EN

Field

Medicine (Life Sciences)