Breast, Ductal carcinoma in situ [LMP42910]

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Diagnostic Modality: 
Whole Slide Image
Disease Category: 
Neoplasia
Diagnosis: 
Ductal carcinoma in situ
Species: 
Human
Organ System: 
Breast
Gender: 
Female
Age: 
37 years
Diagnosis Code: 
ICD-10: D05.1 | ICD-O: 8500/2
Slide Contributor Information
Lou, S., Chang, M.

Keywords

DCIS, ductal carcinoma in situ, p53, Li-Fraumeni, high-grade

Clinical History

Screen-detected enhancing mass on MRI. Biopsy-proven ductal carcinoma in situ (DCIS) and patient underwent bilateral mastectomy. Patient had previously underwent genetic testing, due to strong family history of breast cancer, and found to have TP53 mutation.

Clinical Discussion

This case highlights the appearance of early breast cancer in a patient with Li-Fraumeni syndrome. The findings are of a diffuse involvement of breast epithelium by high-grade ductal carcinoma in situ, with central necrosis.

Li-Fraumeni syndrome is an inherited autosomal dominant disorder associated with mutations in the TP53 gene. TP53 is a tumour suppressor gene that regulates cell cycle, DNA replication, DNA repair and apoptosis. It predisposes individuals to multiple malignancies at an early age, such as breast cancer, sarcomas, brain tumours, and adrenocortical carcinomas.

References (see Related Content):

1) Evans, D.G. Li-Fraumeni syndrome. In: UpToDate, Post, T.W. (Ed.), UpToDate, Waltham, MA. (Assessed on November 23, 2016)

Related Content

Related External Links: 
Evans, D.G. Li-Fraumeni syndrome. In: UpToDate, Post, T.W. (Ed.), UpToDate, Waltham, MA. (Assessed on November 23, 2016)