Breast cancer in a Hispanic patient with Werner syndrome

J Radiol Case Rep. 2023 Oct 31;17(10):21-31. doi: 10.3941/jrcr.v17i8.5168. eCollection 2023 Oct.

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.

Keywords: WRN mutation; Werner syndrome; adult progeria; breast cancer.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Breast Neoplasms* / diagnostic imaging
  • Breast Neoplasms* / genetics
  • Female
  • Hispanic or Latino
  • Humans
  • Mastectomy
  • Mutation
  • Werner Syndrome Helicase / genetics
  • Werner Syndrome* / complications
  • Werner Syndrome* / diagnostic imaging
  • Werner Syndrome* / genetics

Substances

  • Werner Syndrome Helicase
  • TP53 protein, human