Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses

Aitken, S.J., Presneau, Nadège, Dileo, P., Berisha, F., Tirabosco, R., Amary, M.F., Flanagan, A.M. and Kalimuthu Sangeetha 2015. Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses. Virchows Archiv . 467 (2), pp. 203-210.

TitleNext-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses
AuthorsAitken, S.J., Presneau, Nadège, Dileo, P., Berisha, F., Tirabosco, R., Amary, M.F., Flanagan, A.M. and Kalimuthu Sangeetha
Abstract

Desmoid-type fibromatoses are locally aggressive and frequently recurrent tumours, and an accurate diagnosis is essential for patient management. The majority of sporadic lesions harbour beta-catenin (CTNNB1) mutations. We used next-generation sequencing to detect CTNNB1 mutations and to compare the sensitivity and specificity of next-generation sequencing with currently employed mutation detection techniques: mutation-specific restriction enzyme digestion and polymerase chain reaction amplification. DNA was extracted from formalin-fixed paraffin-embedded needle biopsy or resection tissue sections from 144 patients with sporadic desmoid-type fibromatoses, four patients with syndrome-related desmoid-type fibromatoses and 11 morphological mimics. Two primer pairs were designed for CTNNB1 mutation hotspots. Using ≥10 ng of DNA, libraries were generated by Fluidigm and sequenced on the Ion Torrent Personal Genome Machine. Next-generation sequencing had a sensitivity of 92.36 % (133/144, 95 % CIs: 86.74 to 96.12 %) and a specificity of 100 % for the detection of CTNNB1 mutations in desmoid-type fibromatoses-like spindle cell lesions. All mutations detected by mutation-specific restriction enzyme digestion were identified by next-generation sequencing. Next-generation sequencing identified additional mutations in 11 tumours that were not detected by mutation-specific restriction enzyme digestion, two of which have not been previously described. Next-generation sequencing is highly sensitive for the detection of CTNNB1 mutations. This multiplex assay has the advantage of detecting additional mutations compared to those detected by mutation-specific restriction enzyme digestion (sensitivity 82.41 %). The technology requires minimal DNA and is time- and cost-efficient.

KeywordsNext-generation sequencing, Desmoid-type fibromatosis, Beta-catenin, CTNNB1, molecular pathology
JournalVirchows Archiv
Journal citation467 (2), pp. 203-210
ISSN1432-2307
Year2015
PublisherSpringer
Digital Object Identifier (DOI)doi:10.1007/s00428-015-1765-0
Web address (URL)http://dx.doi.org/10.1007/s00428-015-1765-0
Publication dates
Published03 Apr 2015
PublishedAug 2015

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