RSPO2 abnormal transcripts result from read-through in liver tumours with high ß-catenin activation and CTNNB1 mutations - Sorbonne Université Access content directly
Journal Articles Gut Year : 2020

RSPO2 abnormal transcripts result from read-through in liver tumours with high ß-catenin activation and CTNNB1 mutations

Abstract

Thomas Longerich and collaborators1 recently published an intriguing observation in hepatocellular adenoma (HCA) showing an activation of the Wnt/ß-catenin signalling pathway without CTNNB1 or APC mutations. The authors identified a recurrent deletion leading to a fusion between a short interspersed nuclear element (SINE) sequence and RSPO2 gene in three HCAs and three hepatocellular carcinomas (HCCs) all activated for ß-catenin, including one tumour with CTNNB1 mutations and five tumours without APC or CTNNB1 mutations. The authors proposed RSPO2fusion as a recurrent mechanism of ß-catenin activation in liver tumourigenesis. Following this original observation, we analysed the expression and rearrangement of RSPO2 in a series of 10 HCAs and 163 HCCs analysed with RNAseq. We identified a correlation of RSPO2 mRNA expression with several genes known to be positively …
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Dates and versions

hal-03139159 , version 1 (11-02-2021)

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Quentin Bayard, Jean-Charles Nault, Jessica Zucman-Rossi. RSPO2 abnormal transcripts result from read-through in liver tumours with high ß-catenin activation and CTNNB1 mutations. Gut, 2020, 69 (6), pp.1152-1153. ⟨10.1136/gutjnl-2019-319089⟩. ⟨hal-03139159⟩
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