Related Experiment Video
Updated: Jul 16, 2025
11:15
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
24.4K
Malignant phyllodes tumour with lymph node metastasis: a diagnostic conundrum resolved by next generation DNA
Christopher J Schwartz1, Gregor Krings1, Yunn-Yi Chen1
1Department of Pathology, University of California San Francisco (UCSF), San Francisco, CA, USA.
Histopathology
|September 14, 2023
Summary
Malignant phyllodes tumors (MPT) of the breast rarely metastasize to lymph nodes. Targeted DNA sequencing identified MED12 and TERT promoter mutations, supporting MPT diagnosis over metaplastic carcinoma.
Area of Science:
- Oncology
- Pathology
- Genetics
Background:
- Distinguishing between metaplastic carcinoma and malignant phyllodes tumors (MPT) with lymph node metastasis is challenging.
- Metaplastic carcinoma is often favored due to the rarity of lymph node metastasis in MPT.
Discussion:
- This study presents a case of breast neoplasm with spindle cell and chondroid differentiation metastatic to a lymph node.
- Targeted next-generation DNA sequencing was employed to investigate the tumor's molecular characteristics.
Key Insights:
- Pathognomonic hotspot mutations in MED12 were identified.
- Mutations in the TERT gene promoter were also detected.
- These genetic findings strongly support a diagnosis of malignant phyllodes tumor (MPT).
Outlook:
- Molecular diagnostics, including next-generation sequencing, are crucial for accurate tumor classification.
- Understanding the genetic landscape of rare breast tumors improves diagnostic accuracy and patient management.
- Further research into the genetic drivers of MPT metastasis is warranted.
