Literature DB >> 33534137

A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management.

Karan R Chadda1, Katherine Holland2, Daniel Scoffings3, Andrew Dean4, Jessica C Pickles5, Sam Behjati1,6, Thomas S Jacques5,7, Jamie Trotman8, Patrick Tarpey8, Kieren Allinson4, Matthew J Murray1,9.   

Abstract

In a case of astroblastoma, methylation analysis was uninformative, with no clustering with known CNS-HGNET-MN1 cases. Whole genome sequencing however identified a novel MN1-GTSE1 gene fusion (image), confirming the diagnosis of astroblastoma, as well as an EWSR1-PATZ1 gene fusion. Whole genome sequencing, alongside methylation profiling and conventional neuropathology, will continue to lead to improved diagnostics and prognostication for children with brain tumours.
© 2021 The Authors. Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society.

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Year:  2021        PMID： 33534137     DOI： 10.1111/nan.12701

Source DB:  PubMed          Journal:  Neuropathol Appl Neurobiol        ISSN： 0305-1846            Impact factor:   8.090


  4 in total

1.  PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum.

Authors:  Felix Sahm; Karam T Alhalabi; Damian Stichel; Philipp Sievers; Heike Peterziel; Alexander C Sommerkamp; Dominik Sturm; Andrea Wittmann; Martin Sill; Natalie Jäger; Pengbo Beck; Kristian W Pajtler; Matija Snuderl; George Jour; Michael Delorenzo; Allison M Martin; Adam Levy; Nagma Dalvi; Jordan R Hansford; Nicholas G Gottardo; Emmanuelle Uro-Coste; Claude-Alain Maurage; Catherine Godfraind; Fanny Vandenbos; Torsten Pietsch; Christof Kramm; Maria Filippidou; Antonis Kattamis; Chris Jones; Ingrid Øra; Torben Stamm Mikkelsen; Michal Zapotocky; David Sumerauer; David Scheie; Martin McCabe; Pieter Wesseling; Bastiaan B J Tops; Mariëtte E G Kranendonk; Matthias A Karajannis; Nancy Bouvier; Elli Papaemmanuil; Hildegard Dohmen; Till Acker; Katja von Hoff; Simone Schmid; Evelina Miele; Katharina Filipski; Lidija Kitanovski; Lenka Krskova; Johannes Gojo; Christine Haberler; Frank Alvaro; Jonas Ecker; Florian Selt; Till Milde; Olaf Witt; Ina Oehme; Marcel Kool; Andreas von Deimling; Andrey Korshunov; Stefan M Pfister; David T W Jones
Journal:  Acta Neuropathol       Date:  2021-08-21       Impact factor: 17.088

Review 2.  The oncogenic fusion landscape in pediatric CNS neoplasms.

Authors:  Mieke Roosen; Zelda Odé; Jens Bunt; Marcel Kool
Journal:  Acta Neuropathol       Date:  2022-02-15       Impact factor: 15.887

3.  The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.

Authors:  Jamie Trotman; Ruth Armstrong; Helen Firth; Claire Trayers; James Watkins; Kieren Allinson; Thomas S Jacques; James C Nicholson; G A Amos Burke; Sam Behjati; Matthew J Murray; Catherine E Hook; Patrick Tarpey
Journal:  Br J Cancer       Date:  2022-04-22       Impact factor: 9.075

4.  A novel LARGE1-AFF2 fusion expanding the molecular alterations associated with the methylation class of neuroepithelial tumors with PATZ1 fusions.

Authors:  Guillaume Chotard; François le Loarer; Jessica Baud; Rihab Azmani; Arnault Tauziède-Espariat; Volodia Dangouloff-Ros; Nathalie Boddaert; Céline Icher-de-Bouyn; Edouard Gimbert; Lauren Hasty; Alice Métais; Fabrice Chrétien; Pascale Varlet
Journal:  Acta Neuropathol Commun       Date:  2022-02-03       Impact factor: 7.801
  4 in total

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