A deleterious BRCA1 mutation in a young Pakistani woman with metaplastic breast carcinoma

被引：8

作者：

Rashid, Muhammad U. ^{[1
,2
,3
]}

Shah, Mazher A. ^{[4
]}

Azhar, Rafay ^{[5
]}

Syed, Aamir A. ^{[6
]}

Amin, Asim ^{[7
]}

Hamann, Ute ^{[1
]}

机构：

[1] Deutsch Krebsforschungszentrum, D-69120 Heidelberg, Germany

[2] Shaukat Khanum Mem Canc Hosp & Res Ctr SKMCH & RC, Dept Basic Sci, Lahore, Pakistan

[3] Univ Hlth Sci, Human Genet & Mol Biol Dept, Lahore, Pakistan

[4] SKMCH & RC, Dept Radiat Oncol, Lahore, Pakistan

[5] SKMCH & RC, Dept Pathol, Lahore, Pakistan

[6] SKMCH & RC, Dept Surg Oncol, Lahore, Pakistan

[7] Carolinas Med Ctr, Blumenthal Canc Ctr, Charlotte, NC 28203 USA

来源：

PATHOLOGY RESEARCH AND PRACTICE | 2011年 / 207卷 / 09期

关键词：

Metaplastic breast carcinoma; BRCA1; Immunohistochemistry; CANCER PATIENTS; ESTROGEN-RECEPTOR; GERMLINE MUTATION; OVARIAN-CANCER; CHEMOTHERAPY; PREVALENCE; PHENOTYPE; 185DELAG; WOMEN; HER-2;

D O I：

10.1016/j.prp.2011.05.011

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Metaplastic breast carcinoma (MBC) is a relatively rare subtype of breast cancer that encompasses a pathologically heterogeneous group of tumors. Pathogenic germ line mutations in the major breast cancer susceptibility genes BRCA1 and BRCA2 genes have been rarely found or described in MBC. We report the identification of the BRCA1 185delAG mutation in a 22-year-old Pakistani woman with triple-negative MBC that showed biphasic morphological features, including sarcomatous and malignant epithelial components. A comprehensive description of the clinical, histopathological, morphological, and immunohistochemical features of the tumor and the patient's treatment course is presented. (C) 2011 Elsevier GmbH. All rights reserved.

引用

页码：583 / 586

页数：4

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