The genomic landscape of carcinomas with mucinous differentiation Journal Article


Authors: Nguyen, B.; Sanchez-Vega, F.; Fong, C. J.; Chatila, W. K.; Momeni Boroujeni, A.; Pareja, F.; Weigelt, B.; Sotiriou, C.; Larsimont, D.; Reis-Filho, J. S.; Desmedt, C.; Schultz, N.
Article Title: The genomic landscape of carcinomas with mucinous differentiation
Abstract: Mucinous carcinomas can arise in any organ with epithelial cells that produce mucus. While mucinous tumors from different organs are histologically similar, it remains to be elucidated whether they share molecular alterations. Here we analyzed a total of 902 patients across six cancer types by comparing mucinous and non-mucinous samples, integrating text mining of pathology reports, gene expression, methylation, mutational and copy-number profiling. We found that, in addition to genes involved in mucin processing and secretion, MUC2 up-regulation is a multi-cancer biomarker of mucinous histology and is regulated by DNA methylation in colorectal, breast and stomach cancer. The majority of carcinomas with mucinous differentiation had fewer DNA copy-number alterations than non-mucinous tumors. The tumor mutational burden was lower in breast and lung with mucinous differentiation compared to their non-mucinous counterparts. We found several differences in the frequency of oncogenic gene and pathway alterations between mucinous and non-mucinous carcinomas, including a lower frequency of p53 pathway alterations in colorectal and lung cancer, and a lower frequency of PI-3-Kinase/Akt pathway alterations in breast and stomach cancer with mucinous differentiation. This study shows that carcinomas with mucinous differentiation originating from different organs share transcriptomic and genomic similarities. These results might pave the way for a more biologically relevant taxonomy for these rare cancers. © 2021, The Author(s).
Journal Title: Scientific Reports
Volume: 11
ISSN: 2045-2322
Publisher: Nature Publishing Group  
Date Published: 2021-05-04
Start Page: 9478
Language: English
DOI: 10.1038/s41598-021-89099-2
PUBMED: 33947930
PROVIDER: scopus
PMCID: PMC8097060
DOI/URL:
Notes: Article -- Export Date: 1 June 2021 -- Source: Scopus
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MSK Authors
  1. Nikolaus D Schultz
    486 Schultz
  2. Britta Weigelt
    632 Weigelt
  3. Walid Khaled Chatila
    102 Chatila
  4. Christopher Joseph Fong
    42 Fong
  5. Bastien Nguyen
    31 Nguyen