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Bilateral Phyllodes Giant Tumor. A Case Report Analyzed by Array-CGH.

Francesco Fortarezza1, Federica Pezzuto1, Gerardo Cazzato2

  • 1Department of Cardiac, Thoracic, Vascular Sciences and Public Health, Pathology Unit, University of Padova, 35121 Padova, Italy.

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Summary

Phyllodes tumors of the breast are rare biphasic neoplasms. Genomic profiling revealed greater chromosomal instability in borderline phyllodes tumors than malignant ones, suggesting tumor heterogeneity.

Keywords:
array-CGHbreast tumorphyllodes tumor

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Area of Science:

  • Oncology
  • Genetics
  • Pathology

Background:

  • Phyllodes tumors are rare breast neoplasms, accounting for less than 1% of all breast tumors.
  • These tumors are biphasic, comprising stromal and epithelial components, and are classified as benign, borderline, or malignant.
  • A precise molecular classification for phyllodes tumors remains elusive, hindering optimal patient management.

Observation:

  • A 43-year-old woman presented with a bleeding, ulcerative left breast mass and multiple right breast nodules.
  • Histological diagnosis revealed bilateral giant phyllodes tumors: malignant on the left and borderline with fibroadenoma on the right.
  • Array-Comparative Genomic Hybridization (CGH) was performed for molecular characterization.

Findings:

  • The malignant phyllodes tumor exhibited losses in tumor suppressor genes, potentially explaining its aggressive behavior and metastatic risk.
  • Genomic profiling by array-CGH indicated higher chromosomal instability (40 defects) in the borderline tumor compared to the malignant tumor (19 defects).
  • These findings highlight significant tumor heterogeneity within phyllodes tumors.

Implications:

  • Array-CGH analysis provides insights into the genomic landscape of phyllodes tumors.
  • Understanding copy-number alterations may aid in identifying patients with adverse pathological features.
  • Further validation with DNA sequencing and FISH analysis could refine patient selection and improve management strategies for phyllodes tumors.