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.
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https://hal.umontpellier.fr/hal-02295712
Contributeur : Anthony Herrada <>
Soumis le : mardi 24 septembre 2019 - 14:07:49
Dernière modification le : jeudi 26 septembre 2019 - 16:30:34

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Nicola Fusco, Pierre-Emmanuel Colombo, Luciano Martelotto, Maria de Filippo, Salvatore Piscuoglio, et al.. Resolving quandaries: basaloid adenoid cystic carcinoma or breast cylindroma? The role of massively parallel sequencing. Histopathology, Wiley, 2016, 68 (2), pp.262-271. ⟨10.1111/his.12735⟩. ⟨hal-02295712⟩

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