Rosette‐forming glioneuronal tumours are midline, FGFR1‐mutated tumours

Medientyp: E-Artikel
Titel: Rosette‐forming glioneuronal tumours are midline, FGFR1‐mutated tumours
Beteiligte: Appay, Romain; Bielle, Franck; Sievers, Philipp; Barets, Doriane; Fina, Frédéric; Boutonnat, Jean; Adam, Clovis; Gauchotte, Guillaume; Godfraind, Catherine; Lhermitte, Benoît; Maurage, Claude‐Alain; Meyronet, David; Mokhtari, Karima; Rousseau, Audrey; Tauziède‐Espariat, Arnault; Tortel, Marie‐Claire; Uro‐Coste, Emmanuelle; Burel‐Vandenbos, Fanny; Chotard, Guillaume; Pesce, Florian; Varlet, Pascale; Colin, Carole; Figarella‐Branger, Dominique
Erschienen: Wiley, 2022
Erschienen in: Neuropathology and Applied Neurobiology
Sprache: Englisch
DOI: 10.1111/nan.12813
ISSN: 0305-1846; 1365-2990
Schlagwörter: Physiology (medical) ; Neurology (clinical) ; Neurology ; Histology ; Pathology and Forensic Medicine
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Beschreibung: <jats:title>Abstract</jats:title><jats:sec><jats:title>Aim</jats:title><jats:p>Rosette‐forming glioneuronal tumour (RGNT) is a rare central nervous system (CNS) World Health Organization (WHO) grade 1 brain neoplasm. According to the WHO 2021, essential diagnostic criteria are a ‘biphasic histomorphology with neurocytic and a glial component, and uniform neurocytes forming rosettes and/or perivascular pseudorosettes associated with synaptophysin expression’ and/or DNA methylation profile of RGNT whereas ‘<jats:italic>FGFR1</jats:italic> mutation with co‐occurring <jats:italic>PIK3CA</jats:italic> and/or <jats:italic>NF1</jats:italic> mutation’ are desirable criteria.</jats:p></jats:sec><jats:sec><jats:title>Material and methods</jats:title><jats:p>We report a series of 46 cases fulfilling the essential pathological diagnostic criteria for RGNT. <jats:italic>FGFR1</jats:italic> and <jats:italic>PIK3CA</jats:italic> hotspot mutations were searched for by multiplexed digital PCR in all cases, whereas DNA methylation profiling and/or <jats:italic>PIK3R1</jats:italic> and <jats:italic>NF1</jats:italic> alterations were analysed in a subset of cases.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Three groups were observed. The first one included 21 intracranial midline tumours demonstrating <jats:italic>FGFR1</jats:italic> mutation associated with <jats:italic>PIK3CA</jats:italic> or <jats:italic>PIK3R1</jats:italic> (<jats:italic>n =</jats:italic> 19) or <jats:italic>NF1</jats:italic> (<jats:italic>n =</jats:italic> 1) or <jats:italic>PIK3CA</jats:italic> and <jats:italic>NF1</jats:italic> (<jats:italic>n =</jats:italic> 1) mutation. By DNA methylation profiling, eight cases were classified as RGNT (they demonstrated <jats:italic>FGFR1</jats:italic> and <jats:italic>PIK3CA</jats:italic> or <jats:italic>PIK3R1</jats:italic> mutations). Group 2 comprised 11 cases associated with one single <jats:italic>FGFR1</jats:italic> mutation. Group 3 included six cases classified as low‐grade glioma (LGG) other than RGNT (one‐sixth showed <jats:italic>FGFR1</jats:italic> mutation and one a <jats:italic>FGFR1</jats:italic> and <jats:italic>NF1</jats:italic> mutation) and eight cases without <jats:italic>FGFR1</jats:italic> mutation. Groups 2 and 3 were enriched in lateral and spinal cases.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>We suggest adding <jats:italic>FGFR1</jats:italic> mutation and intracranial midline location as essential diagnostic criteria. When DNA methylation profiling is not available, a RGNT diagnosis remains certain in cases demonstrating characteristic pathological features and <jats:italic>FGFR1</jats:italic> mutation associated with either <jats:italic>PIK3CA</jats:italic> or <jats:italic>PIK3R1</jats:italic> mutation.</jats:p></jats:sec>

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