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J Radiol Case Rep ; 17(10): 21-31, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38343885

RESUMO

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.


Assuntos
Neoplasias da Mama , Síndrome de Werner , Adulto , Feminino , Humanos , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/genética , Hispânico ou Latino , Mastectomia , Mutação , Síndrome de Werner/complicações , Síndrome de Werner/diagnóstico por imagem , Síndrome de Werner/genética , Helicase da Síndrome de Werner/genética
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