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Molecular Characterization of Patients with Metastatic Invasive Lobular Carcinoma: Using Real-World Data to Describe
Andrew A Davis1, Ellen Jaeger2, Ian S Hagemann3
1Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri.
Summary
This study reveals distinct genomic and transcriptomic profiles in CDH1-mutant invasive lobular carcinoma (ILC), a common breast cancer subtype. Findings suggest targeting ERBB2 and PIK3CA for ILC treatment and using CDH1 expression for improved classification.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Invasive lobular carcinoma (ILC) is the second most prevalent breast cancer subtype, yet lacks distinct therapeutic strategies.
- Understanding the genomic and transcriptomic characteristics of ILC is crucial for advancing tumor biology insights, refining histologic classification, and developing precision medicine approaches.
Purpose of the Study:
- To characterize the genomic and transcriptomic landscape of invasive lobular carcinoma (ILC) using real-world data.
- To identify potential therapeutic targets and improve classification methods for ILC.
Main Methods:
- Retrospective analysis of next-generation sequencing data from 4,613 metastatic breast cancer patients (637 ILC, 91 mixed, 3,885 IBC-NST) from the Tempus database.
- Profiling of samples using Tempus xT assays.
Main Results:
- CDH1 mutations were identified in 71% of ILC patients, associated with higher tumor mutational burden.
- PIK3CA, ERBB2, and TBX3 mutations were significantly enriched in CDH1-mutant ILC.
- ILC exhibited distinct PAM50 subtype distribution and altered CDH1 expression compared to other breast cancer subtypes.
Conclusions:
- Real-world data highlight a unique molecular profile in CDH1-mutant metastatic ILC.
- Further investigation of ERBB2- and PIK3CA-targeted therapies is warranted for CDH1-mutant ILC.
- Transcriptional differences suggest CDH1 RNA expression could enhance ILC classification.
