Apocrine-Eccrine Carcinomas: Molecular and Immunohistochemical Analyses

被引:47
作者
Le, Long P. [1 ,2 ]
Dias-Santagata, Dora [1 ,2 ]
Pawlak, Amanda C. [1 ,2 ]
Cosper, Arjola K. [1 ,2 ]
Anh Thu Nguyen [1 ,2 ]
Selim, M. Angelica [3 ]
Deng, April [4 ]
Horick, Nora K. [5 ]
Iafrate, A. John [1 ,2 ]
Mihm, Martin C., Jr. [6 ]
Hoang, Mai P. [1 ,2 ]
机构
[1] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA
[2] Harvard Univ, Sch Med, Boston, MA USA
[3] Duke Univ, Med Ctr, Dept Pathol, Durham, NC 27710 USA
[4] Univ Massachusetts, Med Ctr, Dept Pathol, Worcester, MA USA
[5] Massachusetts Gen Hosp, Biostat Ctr, Boston, MA 02114 USA
[6] Brigham & Womens Hosp, Dept Dermatol, Boston, MA 02115 USA
关键词
EPIDERMAL-GROWTH-FACTOR; TYROSINE KINASE INHIBITORS; IN-SITU HYBRIDIZATION; FACTOR RECEPTOR GENE; MUTATIONAL-ANALYSIS; HIGH-FREQUENCY; BREAST-CANCER; ANTITUMOR-ACTIVITY; P53; MUTATIONS; COPY NUMBER;
D O I
10.1371/journal.pone.0047290
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Apocrine-eccrine carcinomas are rare and associated with poor prognosis. Currently there is no uniform treatment guideline. Chemotherapeutic drugs that selectively target cancer-promoting pathways may complement conventional therapeutic approaches. However, studies on genetic alterations and EGFR and Her2 status of apocrine-eccrine carcinomas are few in number. In addition, hormonal studies have not been comprehensive and performed only on certain subsets of apocrine-eccrine carcinomas. To investigate whether apocrine-eccrine carcinomas express hormonal receptors or possess activation of oncogenic pathways that can be targeted by available chemotherapeutic agent we performed immunohistochemistry for AR, PR, ER, EGFR, and HER2 expression; fluorescence in situ hybridization (FISH) for EGFR and ERBB2 gene amplification; and molecular analyses for recurrent mutations in 15 cancer genes including AKT-1, EGFR, PIK3CA, and TP53 on 54 cases of apocrine-eccrine carcinomas. They include 10 apocrine carcinomas, 7 eccrine carcinomas, 9 aggressive digital papillary adenocarcinomas, 10 hidradenocarcinomas, 11 porocarcinomas, 1 adenoid cystic carcinoma, 4 malignant chondroid syringomas, 1 malignant spiradenoma, and 1 malignant cylindroma. AR, ER, PR, EGFR and HER2 expression was seen in 36% (19/53), 27% (14/51), 16% (8/51), 85% (44/52) and 12% (6/52), respectively. Polysomy or trisomy of EGFR was detected by FISH in 30% (14/46). Mutations of AKT-1, PIK3CA, and TP53 were detected in 1, 3, and 7 cases, respectively (11/47, 23%). Additional investigation regarding the potential treatment of rare cases of apocrine-eccrine carcinomas with PI3K/Akt/mTOR pathway inhibitors, currently in clinical testing, may be of clinical interest.
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页数:10
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