 |
|
Unwinding the Heterogeneous Nature of Hamartomatous Polyposis Syndromes
John M. Carethers, MD
JAMA. 2005;294:2498-2500.
|
|
| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
|
|
|
In any classic "whodunit" mystery, the goal of the investigator is to find and expose the guilty party. At the onset, there may be many suspects, some of whom may appear guilty. However, the shrewd investigator picks through those distractors to clearly eliminate them and focuses on specific details to finally identify the true culprit. The same approach holds for the recognition of the hamartomatous polyposis syndromes, many of which demonstrate phenotypic features that overlap with each other.
Prior to molecular identification, phenotypic features were the sole method for disease identification, and ascertainment of future cancer risk was based on that phenotypic classification. If a patient’s clinical findings did not fall exactly into a categorized syndrome, the clinician had to use his or her best judgment based on knowledge of the known syndromes, including the patient’s potential for cancer later in life. With a modern understanding . . . [Full Text of this Article]
Author Affiliations: Department of Medicine and Rebecca and John Moores Comprehensive Cancer Center, University of California, San Diego; Veterans Administration Research Service, San Diego.
RELATED ARTICLE
Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic Polyposis
Kevin Sweet, Joseph Willis, Xiao-Ping Zhou, Carol Gallione, Takeshi Sawada, Pia Alhopuro, Sok Kean Khoo, Attila Patocs, Cossette Martin, Scott Bridgeman, John Heinz, Robert Pilarski, Rainer Lehtonen, Thomas W. Prior, Thierry Frebourg, Bin Tean Teh, Douglas A. Marchuk, Lauri A. Aaltonen, and Charis Eng
JAMA. 2005;294(19):2465-2473.
ABSTRACT
| FULL TEXT
|
