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Experimental Generation of Carcinoma-Associated Fibroblasts CAFs from Human Mammary Fibroblasts
Published on: October 25, 2011
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Myxoid fibroadenomas differ from conventional fibroadenomas: a hypothesis-generating study
John R Lozada1, Kathleen A Burke1, Aoife Maguire1
1Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Histopathology
|May 18, 2017
Summary
Myxoid fibroadenomas (MFAs) of the breast lack common MED12 mutations found in conventional fibroadenomas. Their genetic drivers remain elusive, necessitating further whole-exome or whole-genome analysis.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Myxoid fibroadenomas (MFAs) of the breast exhibit a distinct hypocellular myxoid stroma.
- MFAs can occur sporadically or be associated with Carney complex, linked to PRKAR1A mutations.
- Conventional fibroadenomas (FAs) are typically driven by MED12 mutations in stromal cells.
Purpose of the Study:
- To investigate the genomic landscape of MFAs.
- To compare the genetic alterations in MFAs with those in conventional FAs.
Main Methods:
- Massively parallel sequencing using the Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT) assay on 11 MFAs.
- Targeted sequencing of 410 cancer genes.
- Laser capture microdissection to analyze stromal and epithelial components separately.
Main Results:
- No germline PRKAR1A mutations were detected in sporadic MFAs.
- Six MFAs harbored non-synonymous mutations, with three showing mutations restricted to the epithelial component.
- One case reclassified as a breast myxoma demonstrated a stromal PRKAR1A mutation.
Conclusions:
- MFAs do not harbor MED12 mutations.
- The stromal components of MFAs appear to lack mutations in the tested cancer genes.
- Whole-exome or whole-genome sequencing is needed to identify the genetic drivers of MFAs.
