Cited by 218Endometrial and Cervical Cancer TreatmentsPI3K/AKT/mTOR signaling in cancerCervical Cancer and HPV Research

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PIK3CA and PTEN Mutations in Uterine Endometrioid Carcinoma and Complex Atypical Hyperplasia

Hayes, Monica Prasad, Wang, Hong, Espinal-Witter, Rosanny, Douglas, Wayne, Solomon, Garron J., Baker, Suzanne J., Ellenson, Lora Hedrick·2006·Clinical Cancer Research

DOI 10.1158/1078-0432.ccr-06-1375

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Abstract

Purpose: The tumor suppressor PTEN gene and the PIK3CA oncogene are frequently mutated in uterine endometrioid carcinoma (UEC). PTEN mutations are also common in complex atypical hyperplasia (CAH), the precursor lesion of UEC. The status of PIK3CA has not yet been explored in CAH. In this study, we evaluated both CAH and UEC for PTEN and PIK3CA mutations. Experimental Design: Neoplastic tissue was microdissected, and DNA was extracted from 29 cases of CAH. DNA was available from 44 UEC cases previously characterized for PTEN mutations. Direct DNA sequencing of exons 9 and 20 of the PIK3CA gene was done on all 73 cases. In addition, CAH cases were analyzed for PTEN mutations. Statistical analyses were done using the Fisher's exact test. Results: Two (7%) of 29 CAH and 17 (39%) of 44 UEC cases contained a PIK3CA mutation (P = 0.003). Fourteen (48%) of 29 CAH cases had a PTEN mutation, but none contained both a PTEN and PIK3CA mutation. Twenty-five (57%) of 44 UEC cases had a PTEN mutation, and 12 (48%) of these 25 cases also contained a PIK3CA mutation. Coexistent PIK3CA and PTEN mutations were significantly correlated with UEC compared with CAH (P = 0.002), but the association in UEC did not reach statistical significance (P = 0.21). Conclusions: PIK3CA is the most commonly mutated oncogene in UEC; however, mutations are uncommon in CAH. Thus, mutations in PIK3CA, unlike PTEN mutations, are associated with invasion. These findings suggest that mutations in PIK3CA may serve as a marker of invasion with potential clinical use. Furthermore, PIK3CA and PTEN mutations may play distinct roles in endometrial tumorigenesis.

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Authors: Hayes, M. P., Wang, H., Espinal-Witter, R., Douglas, W., Solomon, G. J., Baker, S. J., & Ellenson, L. H.
Affiliations: Cornell University (US)
St. Jude Children's Research Hospital (US)
ORCID: Wang, Hong
Baker, Suzanne J.
Ellenson, Lora Hedrick
Venue: Clinical Cancer Research
Publisher: American Association for Cancer Research (AACR)
Published: 2006-10-15
Volume: 12
Issue: 20
Pages: 5932-5935
ISSN: 1078-0432 (ISSN-L)
1557-3265
DOI: 10.1158/1078-0432.ccr-06-1375
OpenAlex: W2101549875
Cited by: 218
References: 23
Citations by year: 2025: 6 · 2024: 10 · 2023: 9 · 2022: 5 · 2021: 4 · 2020: 3 · 2019: 19 · 2018: 16 · 2017: 11 · 2016: 15 · 2015: 12 · 2014: 11 · 2013: 17 · 2012: 21
FWCI: 13.15
Type: journal article
Language: en
Open access: closed
Locations: Clinical Cancer Research (publishedVersion)
PubMed (publishedVersion)
Funders: National Cancer Institute (R01CA095427, CA 095427)
Topics: Health Sciences › Medicine › Obstetrics and Gynecology › Endometrial and Cervical Cancer Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › PI3K/AKT/mTOR signaling in cancer
Health Sciences › Medicine › Epidemiology › Cervical Cancer and HPV Research
Keywords: PIK3CA mutation, PTEN mutation, endometrioid endometrial cancer, complex atypical hyperplasia, endometrial tumorigenesis, tumor invasion, co-occurring mutations, precursor lesions
MeSH terms: DNA, Neoplasm, Endometrium, Female, Humans, Hyperplasia, Mutation, Uterine Neoplasms, Endometrial Neoplasms, Phosphatidylinositol 3-Kinases, PTEN Phosphohydrolase, Class I Phosphatidylinositol 3-Kinases

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PIK3CA and PTEN Mutations in Uterine Endometrioid Carcinoma and Complex Atypical Hyperplasia

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