Volume 66, Issue 4 pp. 517-528
Original Article

Ovarian and endometrial endometrioid adenocarcinomas have distinct profiles of microsatellite instability, PTEN expression, and ARID1A expression

Hsien-Neng Huang

Hsien-Neng Huang

Graduate Institute of Pathology, College of Medicine, National Taiwan University, Taipei, Taiwan

Department of Pathology, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, Taiwan

H.-N.H. and M.-C.L. contributed equally to this work.Search for more papers by this author
Ming-Chieh Lin

Ming-Chieh Lin

Department of Pathology, National Taiwan University Hospital, Tapei, Taiwan

H.-N.H. and M.-C.L. contributed equally to this work.Search for more papers by this author
Li-Hui Tseng

Li-Hui Tseng

Department of Medical Genetics, National Taiwan University Hospital, Tapei, Taiwan

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Ying-Cheng Chiang

Ying-Cheng Chiang

Department of Obstetrics and Gynaecology, National Taiwan University Hospital, Tapei, Taiwan

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Liang-In Lin

Liang-In Lin

Department of Clinical Laboratory Sciences and Medical Biotechnology, College of Medicine, National Taiwan University, Tapei, Taiwan

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Yu-Feng Lin

Yu-Feng Lin

Department of Clinical Laboratory Sciences and Medical Biotechnology, College of Medicine, National Taiwan University, Tapei, Taiwan

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Hsin-Ying Huang

Hsin-Ying Huang

Department of Mathematics Education, National Taichung University of Education, Taichung, Taiwan

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Kuan-Ting Kuo

Corresponding Author

Kuan-Ting Kuo

Graduate Institute of Pathology, College of Medicine, National Taiwan University, Taipei, Taiwan

Department of Pathology, National Taiwan University Hospital, Tapei, Taiwan

Address for correspondence: K-T Kuo, 3rd floor, No. 7, Chung Shan South Road, Taipei, Taiwan 10001. e-mail: [email protected]Search for more papers by this author
First published: 06 September 2014
Citations: 33

Abstract

Aims

To understand the role of and differences in molecular alterations between endometrial and ovarian endometrioid adenocarcinomas.

Methods and results

We investigated the microsatellite status of 26 ovarian endometrioid adenocarcinomas (OVEMs), 42 endometrial endometrioid adenocarcinomas (EMCAs), and 19 concurrent (endometrial and ovarian) endometrioid adenocarcinomas. We evaluated the expression of the mismatch repair proteins, PTEN and ARID1A, and mutations of PTEN, KRAS, CTNNB1, and PIK3CA. High levels of microsatellite instability (MSI-H) were present in one of 26 OVEMs, 12 of 42 EMCAs, and four of 19 concurrent endometrioid adenocarcinomas. Only four of 19 concurrent endometrioid adenocarcinomas showed identical molecular alterations in their endometrial and ovarian components. Loss of ARID1A or loss of PTEN expression, and MSI-H, were more common in EMCAs than OVEMs (P = 0.044, P = 0.004, and P = 0.012, respectively). MSI-H in endometrial endometrioid adenocarcinomas was also related to loss of ARID1A expression (P < 0.001). In the cohort of MSI-H endometrioid adenocarcinomas involving the endometrium (n = 16), MSH6-deficient cases showed higher frequencies of CTNNB1 and PIK3CA mutations (P = 0.008 and P = 0.036, respectively), but lower frequencies of KRAS mutation (P = 0.011), than PMS2-deficient cases.

Conclusions

The different frequencies of molecular genetic alterations between endometrial endometrioid adenocarcinomas and ovarian endometrioid adenocarcinomas imply that distinct processes may be involved in their tumorigenesis or tumour progression.

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