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Histopathology. 2016 Jan;68(2):262-71. doi: 10.1111/his.12735. Epub 2015 Jun 29.

Resolving quandaries: basaloid adenoid cystic carcinoma or breast cylindroma? The role of massively parallel sequencing.

Author information

1
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
2
School of Pathology, University of Milan, Milan, Italy.
3
Department of Surgical Oncology, Montpellier Cancer Institute (ICM), Montpellier, France.
4
Department of Tumor Biology, Institut Curie, Paris, France.

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.

KEYWORDS:

adenoid cystic carcinoma; breast cancer; cylindroma; fluorescence in-situ hybridization; massively parallel sequencing

PMID:
25951887
PMCID:
PMC4637261
DOI:
10.1111/his.12735
[Indexed for MEDLINE]
Free PMC Article

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