Comprehensive analysis of CTNNB1 in adrenocortical carcinomas: Identification of novel mutations and correlation to survival

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Maharjan, RajaniUppsala universitet,Endokrinkirurgi,Experimental Surgery Group (author)

Comprehensive analysis of CTNNB1 in adrenocortical carcinomas : Identification of novel mutations and correlation to survival

Article/chapterEnglish2018

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2018-06-05
Springer Science and Business Media LLC,2018
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LIBRIS-ID:oai:DiVA.org:uu-325980
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-325980URI
https://doi.org/10.1038/s41598-018-26799-2DOI

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Language:English
Summary in:English

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The Wnt/β-Catenin signaling pathway is one of the most frequently altered pathways in adrenocortical carcinomas (ACCs). The aim of this study was to investigate the status of Wnt/β-Catenin signaling pathway by analyzing the expression level of β-Catenin and the mutational status of APC, AXIN2, CTNNB1, and ZNRF3 in ACCs. Mutations in APC, CTNNB1, ZNRF3 and homozygous deletions in ZNRF3 were observed in 3.8% (2/52), 11.5% (6/52), 1.9% (1/52) and 17.3% (9/52) of the cohort respectively. Novel interstitial deletions in CTNNB1 spanning intron 1 to exon 3/intron 3 were also found in 7.7% (4/52) of the tumours. All the observed alterations were mutually exclusive. Nuclear accumulation of β-Catenin, increased expression of Cyclin D1 and significantly higher expression of AXIN2 (p = 0.0039), ZNRF3 (p = 0.0032) and LEF1(p = 0.0090) observed in the tumours harbouring the deletion in comparison to tumours without CTNNB1 mutation demonstrates that the truncated β-Catenin is functionally active and erroneously activates the downstream targets. Significantly lower overall survival rate in patients with tumours harbouring alterations in APC/CTNNB1/ZNRF3 in comparison to those without mutation was observed. In conclusion, the discovery of novel large deletions in addition to the point mutations in CTNNB1 infers that activation of Wnt/β-Catenin pathway via alterations in CTNNB1 occurs frequently in ACCs. We also confirm that alterations in Wnt/β-Catenin signaling pathway members have a negative effect on overall survival of patients.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Cell- och molekylärbiologi hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Cell and Molecular Biology hsv//eng
MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Cancer och onkologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Cancer and Oncology hsv//eng
adrenocortical carcinomas
CTNNB1
mutation
β-Catenin
survival
Molekylär genetik
Molecular Genetics
Endokrinologi och Diabetologi
Endocrinology and Diabetology

Added entries (persons, corporate bodies, meetings, titles ...)

Backman, SamuelUppsala universitet,Experimentell kirurgi,Experimental Surgery Group(Swepub:uu)samba267 (author)
Åkerström, TobiasUppsala universitet,Endokrinkirurgi(Swepub:uu)tobak884 (author)
Hellman, PerUppsala universitet,Endokrinkirurgi(Swepub:uu)perhellm (author)
Björklund, PeymanUppsala universitet,Experimentell kirurgi,Experimental Surgery Group(Swepub:uu)pebjo957 (author)
Uppsala universitetEndokrinkirurgi (creator_code:org_t)

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In:Scientific Reports: Springer Science and Business Media LLC82045-2322

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