Journal of Clinical Oncology, Vol 26, No 13 (May 1), 2008: pp. 2234-a
© 2008 American Society of Clinical Oncology.
DOI: 10.1200/JCO.2008.16.0481
In Reply
Karen H. Lu,
Molly Daniels,
Russell R. Broaddus
The University of Texas M.D. Anderson Cancer Center, Houston, TX
In the letter from Blumenthal and Dennis, the possibility of Cowden syndrome is raised as an additional hereditary cancer syndrome that may account for some of the endometrial cancers in our cohort of women younger than age 50 years. Although we did not perform PTEN germline mutation analysis, we did obtain a thorough three-generation pedigree, and there were no women who had personal or family histories of cancer suggestive of Cowden syndrome. In addition, whereas a targeted physical examination evaluating signs of Cowden syndrome including macrocephaly and mucocutaneous lesions was not performed, we did ask patients to self-report relevant skin lesions. Although not a primary goal of our study, our group did not identify any women in whom Cowden syndrome was suspected. Future studies that include evaluation for germline PTEN mutations will be necessary to determine the prevalence of Cowden syndrome in such a cohort of young women with endometrial cancer.
In terms of evaluating tumors for somatic PTEN mutations, there are currently no clinical indications for such testing. Somatic PTEN mutations remain the most frequent molecular abnormality in endometrioid endometrial cancers. Our group and others are evaluating Akt/mTOR inhibitors for the treatment of advanced and recurrent endometrial cancer, and additional work is necessary to determine if somatic PTEN mutation status is a biomarker of response.
Related Correspondence
- Germline PTEN Mutations As a Cause of Early-Onset Endometrial Cancer
Gideon M. Blumenthal and Phillip A. Dennis
JCO 2008 26: 2234
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