Cancer Res Treat.  2015 Jul;47(3):534-538. 10.4143/crt.2013.151.

Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma

• Kim HS
• Lee SW
• Choi YJ
• Shin SW
• Kim YH
• Cho MS
• Lee SN
• Park KH

• KMID: 2148505
• DOI: http://doi.org/10.4143/crt.2013.151

Abstract

We report a case of a 56-year-old woman with breast cancer, ovarian cancer, and diffuse large B-cell lymphoma with a BRCA1 gene mutation. Evidence is mounting that there is a large increase in the risk for hematologic malignancies among patients with genetic changes in the BRCA pathways. The genomic analysis demonstrated a frameshift mutation in the BRCA1 gene: 277_279delinsCC (Phe93fs). It is a novel BRCA1 mutation that has never been reported, and caused malignant lymphoma as well as breast and ovarian cancer.

Keyword

BRCA1 gene; Breast neoplasms; Lymphoma; Ovarian neoplasms

MeSH Terms

Breast
Breast Neoplasms*
Female
Frameshift Mutation
Genes, BRCA1*
Germ-Line Mutation*
Hematologic Neoplasms
Humans
Lymphoma
Lymphoma, B-Cell*
Middle Aged*
Ovarian Neoplasms*

Figure

• 

  Fig. 1. Radiologic and histologic features of the tumors. (A) The medial lateral oblique mammogram of the left breast shows 2×1.7-cm-sized oval shaped isodense mass with partially obscured margin at upper outer quadrant and 3.4×2.3-cm-sized enlarged axillary lymph node with loss of radiolucent fatty hilum at left axilla. (B) Invasive ductal carcinoma of breast (nuclear grade 2, histologic grade 2) reveals irregular infiltrative nests of tumor cells (H&E staining, ×200).

• 

  Fig. 2. Abdomen computed tomography shows well defined homogeneously hypodense 5.4×3.7-cm-sized mass in right adrenal gland (A), and diffuse large B-cell lymphoma of adrenal gland shows diffuse proliferation of large atypical lymphoid cells with vesicular nuclei and multiple prominent nucleoli (B) (H&E staining, ×400).

• 

  Fig. 3. Abdomen computed tomography shows massive ascites with peritoneal thickening (A) and serous carcinoma of ovary reveals infiltrative tumor nests with papillary features (B) (H&E staining, ×200).

• 

  Fig. 4. Genomic analysis demonstrated frameshift mutation in BRCA1 gene: 277_279delinsCC (Phe93fs).

Reference

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