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JNCI Journal of the National Cancer Institute 2000 92(7):530-533; doi:10.1093/jnci/92.7.530
© 2000 by Oxford University Press
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Journal of the National Cancer Institute, Vol. 92, No. 7, 530-533, April 5, 2000
© 2000 Oxford University Press

COMMENTARY

National Cancer Institute Workshop Report: The Phakomatoses Revisited

Margaret Tucker, Alisa Goldstein, Michael Dean, Alfred Knudson

Affiliations of authors: M. Tucker, A. Goldstein (Division of Cancer Epidemiology and Genetics), M. Dean (Division of Basic Sciences), National Cancer Institute, Bethesda, MD; A. Knudson, Fox Chase Cancer Center, Philadelphia, PA.

Correspondence to: Alfred Knudson, M.D., Ph.D., Fox Chase Cancer Center, 7701 Burholme Ave., Philadelphia, PA 19111 (e-mail: AG_Knudson@fccc. edu).


   INTRODUCTION
 
A workshop, "The Phakomatoses Revisited," sponsored by the Office of Rare Diseases of the National Institutes of Health (NIH) and the Division of Cancer Epidemiology and Genetics of the National Cancer Institute (NCI), was held in Rockville, MD, March 2–3, 1999. Motivation for the workshop came from the cloning of the genes for 10 dominantly inherited disorders that are classified as phakomatoses: neurofibromatoses 1 and 2 (NF1 and NF2, respectively), tuberous scleroses 1 and 2 (TSC1 and TSC2, respectively), von Hippel–Lindau disease (VHL), nevoid basal cell carcinoma syndrome (NBCCS), Cowden disease (CD), Peutz–Jeghers syndrome (PJ), juvenile polyposis (JP), and familial adenomatous polyposis (FAP).

In a clinical medicine and pathology session chaired by M. Tucker (NCI, Bethesda, MD), B. Korf (Children's Hospital, Boston, MA) reviewed the concept of the phakomatoses as proposed by van der Hoeve in 1932. The original concept, which was based on careful clinical and pathologic observations that . . . [Full Text of this Article]


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