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Analyzing the Genomic Alteration Landscape of Invasive Micropapillary Breast Carcinoma

By: Kayci Reyer
Posted: Tuesday, May 10, 2022

According to research presented in Nature Communications, copy-number variations are integral to the metastatic potential of invasive micropapillary breast carcinoma and may share a monoclonal metastatic seed. Poor outcomes such as inferior overall survival and lymph node metastasis were found to be associated with the expression levels of certain cell clusters.

“We find evidence that the monoclonal metastatic ancestor in primary [invasive micropapillary carcinoma] shares high frequency copy-number loss of PRDM16 and IGSF9 and the copy-number gain of ALDH2,” noted Li Fu, PhD, of Tianjin Medical University Cancer Institute and Hospital, China, and colleagues.

The investigators analyzed 17 pairs of freshly frozen primary invasive micropapillary carcinoma tumor tissue and healthy tissue using whole-exome sequencing and whole-genome sequencing. The mutational and copy-number variation results were characterized before topographic cell cluster sequencing was performed on individual cell clusters. These clusters were sourced from formalin-fixed paraffin-embedded specimen lesions from either primary disease or lymph node metastasis. The sequencing results allowed for the characterization of copy-number variations and genomic features of the disease. A total of 1,228 nonsilent somatic genetic alterations were identified. Mutations were most commonly detected in TP53, CDC27, CELSR2, CEP192, KIF26A, and RYR2.

“We expect these genomic and evolutionary profiles to contribute to the accurate diagnosis of invasive micropapillary carcinoma,” concluded the authors.

Disclosure: For full disclosures of the study authors, visit nature.com.


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