| Added by | standudu |
|---|---|
| Group name | EquipeCTCS |
| Item Type | Journal Article |
| Title | Resolving quandaries: basaloid adenoid cystic carcinoma or breast cylindroma? The role of massively parallel sequencing |
| Creator | Fusco et al. |
| Author | Nicola Fusco |
| Author | Pierre-Emmanuel Colombo |
| Author | Luciano G. Martelotto |
| Author | Maria R. De Filippo |
| Author | Salvatore Piscuoglio |
| Author | Charlotte K. Y. Ng |
| Author | Raymond S. Lim |
| Author | William Jacot |
| Author | Anne Vincent-Salomon |
| Author | Jorge S. Reis-Filho |
| Author | Britta Weigelt |
| 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. |
| Publication | Histopathology |
| Volume | 68 |
| Issue | 2 |
| Pages | 262-271 |
| Date | Jan 2016 |
| Journal Abbr | Histopathology |
| Language | eng |
| DOI | 10.1111/his.12735 |
| ISSN | 1365-2559 |
| Short Title | Resolving quandaries |
| Library Catalog | PubMed |
| Extra | PMID: 25951887 PMCID: PMC4637261 |
| Tags | adenoid cystic carcinoma, Aged, Biomarkers, Tumor, Breast, breast cancer, Breast Neoplasms, Carcinoma, Adenoid Cystic, cylindroma, Exome, Female, fluorescence in-situ hybridization, High-Throughput Nucleotide Sequencing, Humans, Immunohistochemistry, In Situ Hybridization, Fluorescence, massively parallel sequencing, Mastectomy, Segmental, Phenotype, review, Sequence Analysis, DNA |
| Date Added | 2019/05/31 - 16:01:23 |
| Date Modified | 2019/05/31 - 16:01:32 |
| Notes and Attachments | PubMed entry (Attachment) Version acceptée (Attachment) |
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