Micropapillary variant of mucinous carcinoma of the breast shows genetic alterations intermediate between those of mucinous carcinoma and micropapillary carcinoma Journal Article

   


Authors: Pareja, F.; Selenica, P.; Brown, D. N.; Sebastiao, A. P. M.; da Silva, E. M.; Da Cruz Paula, A.; Del, A.; Fu, L.; Weigelt, B.; Brogi, E.; Reis-Filho, J. S.; Wen, H. Y.
Article Title: Micropapillary variant of mucinous carcinoma of the breast shows genetic alterations intermediate between those of mucinous carcinoma and micropapillary carcinoma
Abstract: Aims: Micropapillary variant of mucinous carcinoma of the breast (MPMC) is a rare histological form of oestrogen receptor (ER)-positive invasive carcinoma that is characterised by micropapillary clusters of tumour cells in lakes of extracellular mucin. The aims of this study were to determine the genetic alterations underpinning MPMCs, and to determine whether they overlap with those of mucinous carcinomas and/or invasive micropapillary carcinomas. Methods and results: DNA from five MPMCs was subjected to whole-exome sequencing. Somatic mutations, copy number alterations and mutational signatures were determined with state-of-the-art bioinformatics methods. No mutations in genes significantly mutated in breast cancer, including TP53, PIK3CA, GATA3, and MAP3K1, were detected. We identified copy number alterations that have been reported in invasive micropapillary carcinomas, such as recurrent gains in 1q, 6p, 8q, and 10q, and recurrent losses in 16q, 11q, and 13q, as well as a recurrent 8p12–8p11.2 amplification encompassing FGFR1. Like mucinous carcinomas, three of the five MPMCs analysed lacked PIK3CA mutations, 1q gains, and 16q losses, which are the hallmark genetic alterations of ER-positive breast cancers, whereas two MPMCs harboured 16q losses and/or a complex pattern of copy number alterations similar to those found in breast-invasive micropapillary carcinomas. Conclusions: MPMCs are heterogeneous at the genetic level; some tumours show a pattern of somatic genetic alterations similar to those of mucinous carcinomas, whereas others resemble invasive micropapillary carcinomas at the genetic level. These findings suggest that MPMCs may not constitute one histological subtype, but rather a convergent phenotype that can stem from mucinous carcinomas or invasive micropapillary carcinomas. © 2019 John Wiley & Sons Ltd
Keywords: breast cancer; massively parallel sequencing; micropapillary variant of mucinous carcinoma
Journal Title: Histopathology
Volume: 75
Issue: 1
ISSN: 0309-0167
Publisher: Wiley Blackwell  
Date Published: 2019-07-01
Start Page: 139
End Page: 145
Language: English
DOI: 10.1111/his.13853
PUBMED: 30843622
PROVIDER: scopus
PMCID: PMC6591080
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85067406114&doi=10.1111%2fhis.13853&partnerID=40&md5=7e28e9aa564ef93e8ddd53fdaa4ba239
Notes: Article -- Export Date: 2 August 2019 -- Source: Scopus
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MSK Authors
  1. Hannah Yong Wen
    301 Wen
  2. Edi Brogi
    515 Brogi
  3. Britta Weigelt
    632 Weigelt
  4. Jorge Sergio Reis-Filho
    639 Reis-Filho
  5. Arnaud Fabian Da Cruz Paula
    145 Da Cruz Paula
  6. Fresia Gilda Pareja Zea
    216 Pareja Zea
  7. Edaise Maria Da Silva
    95 Da Silva
  8. Pier Selenica
    189 Selenica
  9. David Norman Brown
    91 Brown
  10. Ana Paula Martins Sebastiao
    33 Martins Sebastiao
  11. Angela Del
    2 Del
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