Breast cancer in a Hispanic patient with Werner syndrome

Authors

  • Manuel Menendez Santos Department of Diagnostic Radiology, University of Florida Jacksonville, FL 32209, USA
  • Carlos Gonzalez Baerga Department of Diagnostic Radiology, University of Florida Jacksonville, FL 32209, USA
  • Sanjay Lamsal Department of Diagnostic Radiology, University of Florida Jacksonville, FL 32209, USA
  • Corey Engel Department of Diagnostic Radiology, University of Florida Jacksonville, FL 32209, USA
  • Savas Ozdemir Department of Diagnostic Radiology, University of Florida Jacksonville, FL 32209, USA

DOI:

https://doi.org/10.3941/jrcr.v17i10.5168

Abstract

Werner Syndrome is a rare autosomal recessive condition characterized by premature aging and increased risk of malignancies due to gene mutations associated with DNA stability. We present the first case report of a 29-year-old Hispanic female with WS diagnosed with breast cancer. Diagnostic mammography and ultrasound, breast MRI and PET examinations revealed two lesions biopsy proven as invasive ductal carcinoma. The patient underwent neoadjuvant chemotherapy and radical mastectomy. Recurrence occurred 10 months postoperatively with molecular analysis demonstrating TP53 mutations. The multifactorial assessment of breast cancer in this case study is crucial towards optimizing screening, diagnosis and management of this disease in patients with WS.

Breast MRI with (a) axial STIR, (b) axial T1, (c) axial T1 Dynamic contrast enhanced, and (d) sagittal.

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Published

2023-12-20

Issue

Vol. 17 No. 10 (2023)

Section

Breast Imaging

License

Copyright (c) 2023 Journal of Radiology Case Reports

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