Resolving quandaries: Basaloid adenoid cystic carcinoma or breast cylindroma? The role of massively parallel sequencing Journal Article

   

Authors:	Fusco, N.; Colombo, P. E.; Martelotto, L. G.; De Filippo, M. R.; Piscuoglio, S.; Ng, C. K. Y.; Lim, R. S.; Jacot, W.; Vincent-Salomon, A.; Reis-Filho, J. S.; Weigelt, B.
Article Title:	Resolving quandaries: Basaloid adenoid cystic carcinoma or breast cylindroma? The role of massively parallel sequencing
Abstract:	Aims: The aims of this study were to perform a whole-exome sequencing analysis of a breast cylindroma and to investigate the role of molecular analyses in the differentiation between breast cylindroma, a benign tumour that displays MYB expression, and CYLD gene mutations, and its main differential diagnosis, the breast solid-basaloid adenoid cystic carcinoma, a malignant tumour that is characterized by the presence of the MYB-NFIB fusion gene and MYB overexpression. Methods and results: A 66-year-old female underwent quadrantectomy after an irregular dense shadow was discovered in the right breast at the screening mammogram. Histologically, the tumour displayed features suggestive of a solid-basaloid variant of adenoid cystic carcinoma with a differential diagnosis of cylindroma. Fluorescence in situ hybridization, reverse transcription-polymerase chain reaction, immunohistochemistry and whole-exome sequencing revealed absence of the MYB-NFIB fusion gene, low levels of MYB protein expression and a clonal somatic CYLD splice site mutation associated with loss of heterozygosity of the wild-type allele. Conclusions: The results of the histological, immunohistochemical and molecular analyses were consistent with a diagnosis of breast cylindroma, providing a proof-of-principle that the integration of histopathological and molecular approaches can help to differentiate between a low-malignant potential and a benign breast tumour of triple-negative phenotype. © 2016 John Wiley & Sons Ltd.
Keywords:	breast cancer; adenoid cystic carcinoma; massively parallel sequencing; fluorescence in-situ hybridization; cylindroma
Journal Title:	Histopathology
Volume:	68
Issue:	2
ISSN:	0309-0167
Publisher:	Wiley Blackwell
Date Published:	2016-01-01
Start Page:	262
End Page:	271
Language:	English
DOI:	10.1111/his.12735
PROVIDER:	scopus
PMCID:	PMC4637261
PUBMED:	25951887
DOI/URL:	http://www.scopus.com/inward/record.url?eid=2-s2.0-84955197830&partnerID=40&md5=5297ee06ec4e01dde403bbc62584e49b
Notes:	Article -- Export Date: 3 February 2016 -- Source: Scopus

https://synapse.mskcc.org/synapse/works/has_related_data_chk/87811