ABSTRACT:
BACKGROUND: Acinic cell carcinoma
(ACC) is a rare malignant epithelial neoplasm characterized by the presence of
malignant tubular acinar exocrine gland structures. Diagnosis is generally made
in salivary glands and in the pancreas. ACC of the breast has been reported in
few cases only. Carriers of inherited mutations in the BRCA1 gene are prone to
the development of breast cancer, mainly invasive ductal or medullary type
carcinomas. We describe for the first time a BRCA1 mutation carrier with a
diagnosis of ACC of the breast.
CASE PRESENTATION:
The patient developed an invasive
ductal carcinoma (IDC) at the age of 40 years and an ACC in the contralateral
breast at 44 years. Immunohistochemical examination of the ACC revealed a
triple negative status (i.e., negativity for estrogen receptor, progesterone
receptor and HER2 protein) and positivity for p53. Using a combination of loss
of heterozygosity (LOH) and sequencing analyses, the loss of the wild-type
BRCA1 allele was detected in both the ACC and the IDC. In addition, two
different somatic TP53 mutations, one in the ACC only and another one in the
IDC only, were observed.
CONCLUSION:
Both the immunohistochemical and
molecular features observed in the ACC are typical of BRCA1-associated breast
cancers and suggest an involvement of the patient's germline mutation in the
disease. The occurrence of rare histological types of breast cancers, including
malignant phyllodes tumor, atypical medullary carcinoma and metaplastic
carcinoma, in BRCA1 mutation carriers has been already reported. Our findings
further broaden the spectrum of BRCA1-associated breast malignancies.
Source: First description of an acinic
cell carcinoma of the breast in a BRCA1 mutation carrier: a case report.
Ripamonti CB, Colombo M, Mondini P, Siranoush M, Peissel B, Bernard L, Radice P
(paolo.radice@istitutotumori.mi.it),
Carcangiu ML. BMC Cancer. 2013 Feb 1;13(1):46.
Free paper available at:
Aucun commentaire:
Enregistrer un commentaire