Imperial College London
Portrait Picture

Professor Mona El-Bahrawy

Faculty of Medicine, Department of Metabolism, Digestion and Reproduction

Professor of Practice (Histopathology)
 
 
 
//

Contact

 

m.elbahrawy

 
 
//

Location

 

Department of HistopathologyHammersmith HospitalHammersmith Campus

//

Summary

 

Publications

Citation

BibTex format

@article{Wang:2019:10.1111/pin.12778,
author = {Wang, J and Gerrard, G and Poskitt, B and Dawson, K and Trivedi, P and Foroni, L and El-Bahrawy, M},
doi = {10.1111/pin.12778},
journal = {Pathology International},
pages = {193--201},
title = {Targeted next generation sequencing of pancreatic solid pseudopapillary neoplasms show mutations in Wnt signaling pathway genes},
url = {http://dx.doi.org/10.1111/pin.12778},
volume = {69},
year = {2019}
}
Download

RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Solid pseudopapillary neoplasms of the pancreas are rare neoplasms that have been shown to harbor recurrent somatic pathogenic variants in the beta-catenin gene, CTNNB1. Here, we used targeted next generation sequencing to analyze these tumors for other associated mutations. Six cases of solid pseudopapillary neoplasms were studied. DNA extracted from formalin-fixed paraffin embedded tissue blocks was analyzed using the Ion Torrent platform, with the 50-gene Ampliseq Cancer Hotspot Panel v2 (CHPv2), with further variant validation performed by Sanger sequencing. Four tumors (67%) were confirmed to harbor mutations within CTNNB1, two with c.109T > G p.(Ser37Ala) and two with c.94G > A p.(Asp32Asn). One case showed a frameshift deletion in the Adenomatous Polyposis Coli gene, APC c.3964delG p.(Glu1322Lysfs93) with a variant allele frequency of 42.6%. Sanger sequencing on non-tumoral tissue confirmed the variant was somatic. The patient with the APC mutation developed metastasis and died. In addition to the four cases harboring CTNNB1 variants, we found a case characterized by poor outcome, showing a rare frameshift deletion in the APC gene. Since the APC product interacts with beta-catenin, APC variants may, in addition to CTNNB1, contribute to the pathogenesis of solid pseudopapillary neoplasms via the Wnt signaling pathway.
AU  - Wang,J
AU  - Gerrard,G
AU  - Poskitt,B
AU  - Dawson,K
AU  - Trivedi,P
AU  - Foroni,L
AU  - El-Bahrawy,M
DO  - 10.1111/pin.12778
EP  - 201
PY  - 2019///
SN  - 1320-5463
SP  - 193
TI  - Targeted next generation sequencing of pancreatic solid pseudopapillary neoplasms show mutations in Wnt signaling pathway genes
T2  - Pathology International
UR  - http://dx.doi.org/10.1111/pin.12778
UR  - https://www.ncbi.nlm.nih.gov/pubmed/30811747
UR  - http://hdl.handle.net/10044/1/67526
VL  - 69
ER  -
Download