Recommended Reading
The following articles are recommended to you by our Medical
Advisors and Reviewers. If you have time to read only three
articles, please read those marked
*** by Lonser (Lancet) and
Eisenhofer and Lonser
on ELST.
Please note: Information
on the Internet is sometimes relocated. If you have difficulty
finding one of the internet references, try a search engine
to find its current location. PMID indicates an index reference
for PubMed, an online resource for medical articles at www.pubmed.com
Al-Sobhi, S., et al., “Laparoscopic Partial Adrenalectomy
for recurrent pheochromocytoma after open partial adrenalectomy
in von Hippel-Lindau disease,” J Endourol. 2002;16(3):171-4.
American Academy of Ophthalmology, online brochures: “Laser
Surgery in Ophthalmology,” and “Cryotherapy,”
AAO, P.O. Box 7424, San Francisco, CA 94120-7424. +1 415 561-8500.
http://www.aao.org
The National Eye Institute (www.nei.nih.gov)
and the National Library of Medicine (www.nlm.nih.gov)
are both excellent resources for new terms and treatments.
American Brain Tumor Association, “Dictionary for Brain
Tumor Patients” and “A Primer of Brain Tumors,”
ABTA, 2720 River Road, Suite 146, Des Plaines, IL 60018. (800)
886-2282 or +1 708 827-9910; Fax: +1 708 827-9918. http://hope.abta.org
info@abta.org
The American Society of Human Genetics (ASHG) has information
on policy and ethics on their website. See http://genetics.faseb.org/genetics/ashg/ashgmenu.htm
The Office of Biotechnology Activities maintains a website
that contains information on the work of the Advisory Committee
to the Secretary of Health and Human Services on “Genetic
Testing.” http://www4.od.nih.gov/oba/
The Human Genome Institute has a section on Policy and Ethics
that deals with the Ethical, Legal, and Social Implications
of the Human Genome Project and genetic testing See http://www.genome.gov/PolicyEthics
Béroud, Chistophe, The Worldwide VHL Mutations Database,
www.umd.be
Blodi, Christopher, et al., “Direct and Feeder Vessel
Photocoagulation of Retinal Angiomas with Dye Yellow Laser,”
Ophthalmology, 97 (1990) 791-797, with commentary by L. Fingerman
and D. Saggan.
Chauveau, D., et al, “Renal involvement in von Hippel-Lindau
disease.” Kidney Int. 1996 50:944-951.
Chew, Emily, et al, Von Hippel-Lindau disease: clinical considerations
and the use of fluorescein-potentiated argon laser therapy for
treatment of retinal angiomas. Seminars in Ophthalmology. 7(3):182-91,
1992 Sep.
Choo, Daniel I., et al, “Endolymphatic Sac Tumors in
von Hippel-Lindau Disease,” J. Neurosurg, 2004; 100:480-487.
Choyke, P.L., et al., “The Natural History of Renal Lesions
in von Hippel-Lindau Syndrome.” Am J Roentgen 1992 159:1229-1234.
Choyke, Glenn, et al., “Von Hippel-Lindau Disease: Genetic,
Clinical, and Imaging Features.” Radiology, March 1995,
pp. 639-641. http://www.cc.nih.gov/ccc/papers/vonhip/toc.html
Collins, Debra, Information for Genetic Professionals http://www.kumc.edu/gec/prof/kugenes.html
Diet, Nutrition, and Cancer Prevention: The Good News, U.S.
National Institutes of Health, publication 87-2878, and the
Five-a-Day Program. 1-800-4CANCER.
Dollfus, Hélène et al, Retinal hemangioblastoma
in von Hippel-Lindau disease: a clinical and molecular study.
Invest Ophthalmol Vis Sci 2002 Sep; 43(9):3067-3074.
Drachenberg DE, Mena OJ, Choyke PL, Linehan WM, Walther MM.
Parenchymal sparing surgery for central renal tumors in patients
with hereditary renal cancers. J Urol. 2004 Jul;172(1):49-53.
PMID:
15201735
Duan, Linehan, Klausner et al., “Characterization of
the VHL tumor suppressor gene product.” Proc. Natl. Acad.
Sci., USA 1995; 92:6459-6463.
Duffey, B. G., Choyke, P. L., Glenn, G., Grubb, R. L., Venzon,
D., Linehan, W. M., and Walther, M. M. The Relationship Between
Renal Tumor Size and Metastases in Patients with von Hippel-Lindau
Disease. J Urol, 172: 63-65, 2004.
*** Eisenhofer, G.,
and K. Pacak. Diagnosis of pheochromocytoma. Harrison’s
On-line.
Eisenhofer, Graeme, et al. Malignant pheochromocytoma: current
status and initiatives for future progress. Endocrine-Related
Cancer (2004) 11: 423-436.
El-Sayed, Yasser, Pregnancy and VHL. VHL Family Forum, 2001,
www.vhl.org/newsletter/vhl2001/01eapreg.php
Glenn, G.M., et al, “Von Hippel-Lindau Disease: Clinical
Review and Molecular Genetics,” Problems in Urology 1990
42:312-330.
Glenn et al, “Screening for von Hippel-Lindau Disease
by DNA Polymorphism Analysis.” JAMA 1992 267:1226-1231.
Glenn et al, “Von Hippel-Lindau (VHL) disease: distinct
phenotypes suggest more than one mutant allele at the VHL locus.”
Hum. Genet. 1991 87:207-210.
Goldfarb, David, H. Neumann, I. Penn, A. Novick, “Results
of renal transplantation in patients with renal cell carcinoma
and von Hippel-Lindau disease.” Transplantation. 1997
Dec 27; 64(12):1726-9.
Green et al, “Von Hippel-Lindau Disease in a Newfoundland
kindred,” Canadian Med. Assn. Journal 1986 134:133-146.
Hammel, Pascal R., et al., Pancreatic Involvement in von Hippel-Lindau
disease, Gastroenterology, 2000; 119(4), 1087-1095.
Herring, J. C., Enquist, E. G., Chernoff A.C., Linehan, W.
M., Choyke, P. L., and Walther, M. M. Parenchymal Sparing Surgery
in Patients with Hereditary Renal Cell Carcinoma - Ten Year
Experience. The Journal of Urology, 165: 777-781, 2001.
Hoobyar AR, Ferrucci S, Anderson SF, Townsend JC. Juxtapapillary
capillary hemangioblastoma. Optom and Vis Sci 2002 June;79(6):
346-352.
Hwang JJ, Uchio EM, Pavlovich CP, Pautler SE, Libutti SK, Linehan
WM, Walther MM. Surgical management of multi-organ visceral
tumors in patients with von Hippel-Lindau disease: a single
stage approach. J Urol. 2003 Mar;169(3):895-8. PMID:
12576808
James, G. P., Hastening the Road to Diagnosis: the Role of
the Broad Ligament Cystadenoma in Early Detection of VHL. VHL
Family Forum, 1998, www.vhl.org/newsletter/vhl1998/98ccapmo.php
Kaelin, William G. Jr., “The von Hippel-Lindau gene,
kidney cancer, and oxygen sensing.” J Am Soc Nephrol.
2003 Nov: 14(11):2703-2011.
Kahle, W., H. Leonhardt, and W. Platzer, Color Atlas and Textbook
of Human Anatomy. Georg Thieme Pub., Stuttgart, 1978.
Lamiell et al, “Von Hippel Lindau Disease Affecting 43
Members of a Single Kindred.” Medicine 1989 68:1-29.
Latif, F., et al., “Identification of the von Hippel-Lindau
Disease Tumor Suppressor Gene.” Science 1993 260:1317-1320.
Lenders J.W.M., K. Pacak, M.M. Walther, W.M. Linehan, M. Mannelli,
P. Friberg, H.R. Keiser, D.S. Goldstein and G. Eisenhofer. Biochemical
diagnosis of pheochromocytoma: Which test is best? Journal of
the American Medical Association 287: 1427-1434, 2002.
Lonser, Russell R., et al, “Surgical Management of Spinal
Cord Hemangioblastomas in patients with von Hippel-Lindau disease,”
J. Neurosurg, 2003; 98(106-116)
*** Lonser, Russell
R., et al, “Tumors of the Endolymphatic Sac in von Hippel-Lindau
Disease,” N. E. J. Med. 2004; 350:2481-2486. PMID:
15190140
*** Lonser, Russell
R., et al., “Von Hippel-Lindau Disease,” Lancet,
2003; 361(9374):2059-2067. PMID:
12814730
Maher, E. R., et al, “Von Hippel-Lindau disease: a genetic
study,” J. Med. Genet. 1991 28:443-447.
Maher, E. R. et al., “Phenotypic expression in von Hippel-Lindau
disease: Correlations with germline VHL gene mutations. J. Med.
Genetics, 1996 33:328-332.
Maranchie, J. K., Walther, M. M., and Linehan, W. M. Early
Identification of Patients with von Hippel Lindau Disease at
Risk for Pheochromocytoma. Current Urology Reports, 2001.
Maranchie, J. K., Afonso, A., Albert, P., Phillips, J. L.,
Zhou, S., Peterson, J., Hurley, K., Riss, J., Vasselli, J. R.,
Ried, T., Zbar, B., Choyke, P., Walther, M. M., Klausner, R.
D., and Linehan, W. M. Solid Renal Tumor Severity in von Hippel
Lindau Disease is Related to Germline Deletion Length and Location.
Human Mutation, 23: 40-46, 2004
Marcos, H.B., Libutti S., et al., “Neuroendocrine tumors
of the pancreas in von Hippel-Lindau disease: spectrum of appearances
at CT and MR imaging with histopathologic comparison,”
Radiology, 2002; 225(3):751-8.
McCue, Kathleen, and Ron Bonn, How to Help Children Through
a Parent’s Serious Illness. St. Martin’s Press,
1994.
Megerian, CA, “Hearing Preservation Surgery for small
Endolymphatic Sac Tumors in patients with von Hippel-Lindau
syndrome,” Otol Neurotol, 2002; 23:378-387.
Neumann, H.P.H., et al. “Germline Mutations in Non-Syndromic
Pheochromocytoma.” New England Journal of Medicine (2002)
346:1459-1466
Pacak, K. G. Eisenhofer, and I. Ilias. Diagnostic imaging of
pheochromocytoma. Frontiers of Hormone Research 31:107-120,
2004. PMID:
14674307
Pacak K. G. Eisenhofer, and H.R. Keiser. Pheochromocytoma.
In L.S. DeGroot, J.L. Jameson (eds) Textbook of Endocrinology.
5th edition. Elsevier Science Inc., Philadelphia “in press”.
Price, E. B., “Papillary Cystadenoma of the Epididymis.”
Arch. Pathol. 1971 91:456-470.
Privacy Commission of Canada: Genetic Testing and Privacy (1992)
Ottawa, Canada, ISBN 0-662-58966-1
Richard, S., et al, Pheochromocytoma as the first manifestation
of von Hippel-Lindau disease. Surgery, 1994, 116: 1076-1081.
Richard, S., et al. La maladie de von Hippel-Lindau: une maladie
à impact tissulaire multiple. Press Méd., 1998,
27:1112-1120.
Richard, S., et al. Von Hippel-Lindau disease: recent advances
and therapeutic perspectives. Expert Rev. Anticancer Ther.,
2003, 3:215-233. PMID:
12722881
Richard S, Lindau J, Graff J, Resche F. Von Hippel-Lindau disease.
Lancet, 2004, 363: 1231-1234. PMID:
15081659
Sanflippo P, Troutbeck R, Vandeleur K. Retinal angioma associated
with von Hippel Lindau disease. Clin Exp Optom 2003 May;86(3):
187-191.
Schmidt, D., and H. Neumann, “Retinal Vascular Hamartoma
in von Hippel-Lindau Disease.” Arch. Ophthalmol, 1995
113:1163-1167.
Self-Examination of the Testes, PRR, Inc. 48 South Service
Road, Melville, NY 11747 (telephone: 631-777-3800) or e-mail
orderinfo@cancernetwork.com
or download from http://www.cancernetwork.com/PatientGuides/Testes_Examination.htm
Sgambati, M. T., Stolle, C. A., Choyke, P. L., Walther, M.
M., Zbar, B., Linehan, W. M., and Glenn, G. M. Mosaicism in
von Hippel-Lindau Disease: Lessons from Kindreds with Germline
Mutations Identified in Offspring with Parents Mosaic for VHL.
Am J Hum Genet, 66: 84-91, 2000.
Singh AD, Nouri M, Shields CL, Shields JA, Perez N. Treatment
of retinal capillary hemangioma. Ophthalmology. 2002 Oct;109(10):1799-806.
Singh AD, Shields CL, Shields JA. von Hippel-Lindau Disease.
Surv Ophthalmol 2001 Sept-Oct;46(2):117-142
Steinbach, Novick, et al., “Treatment of Renal Cell Carcinoma
in von Hippel-Lindau Disease: A Multi-Center Study.” Journal
of Urology, June 1995.
Stolle, C., et al, “Improved Detection of Germline Mutations
in the von Hippel-Lindau disease tumor-suppressor gene,”
Human Mutat, 1998; 12:417-423
Testicular Cancer Resource Center, http://tcrc.acor.org.
See also Self-Examination... above
Von Hippel-Lindau Family Alliance website (information for
families, clinicians, researchers) http://www.vhl.org
Walther MM, Reiter R, Keiser HR, Choyke
PL, Venzon D, Hurley K, Gnarra JR, Reynolds JC, Glenn GM, Zbar
B, Linehan WM. Clinical and genetic characterization of pheochromocytoma
in von Hippel-Lindau families: comparison with sporadic pheochromocytoma
gives insight into natural history of pheochromocytoma. J Urol.
1999 Sep;162(3 Pt 1):659-64. PMID:
10458336
Walther, MM, Herring, J., Choyke, P. L., and Linehan, W. M.
Laparoscopic partial adrenalectomy in patients with hereditary
forms of pheochromocytoma. J Urol, 164: 14-17, 2000. PMID:
10840414
Walther MM. New therapeutic and surgical approaches for sporadic
and hereditary pheochromocytoma. Ann N Y Acad Sci. 2002 Sep;970:41-53.
Review. PMID:
12381540
Walther, McC., et al., “Parenchymal Sparing Surgery in
patients with hereditary renal cell carcinoma.” J. Urology
1995 153:913-916.
Wanebo, J. E., et al., “The natural history of hemangioblastomas
of the central nervous system in patients with von Hippel-Lindau
disease,” J. Neurosurg, 2003, 98:82-94.
Welch, R. B., “Von Hippel-Lindau Disease: The Recognition
and Treatment of Early Angiomatosis Retinae and the use of Cryosurgery
as an Adjunct to Therapy.” Trans. Am. Ophthalmol. Soc.
1970 68:367-424.
Willett, Walter C., Eat, Drink, and Be Healthy, copyright 2001,
Simon & Schuster. Pyramid developed by the Harvard School
of Public Health, www.hsph.harvard.edu (copyright 2004 President
and Fellows of Harvard College).
Yang H, Kaelin WG Jr., et al., “Analysis of von Hippel-Lindau
hereditary cancer syndrome: Implications of oxygen sensing.”
Methods Enzymol. 2004; 381:320-335
Zbar, Berton, Chief, Frederick Cancer Research Facility, Role
of the National Cancer Institute in kidney cancer research http://web.ncifcrf.gov/research/kidney/bassci.html
Section 9: Prepared
by . . . |
Members of the VHL Family Alliance -- Edited by Joyce Wilcox
Graff
with the kind assistance of
Lloyd M. Aiello, M.D., Beetham Eye Institute, Joslin Diabetes
Center, Boston, Massachusetts
Lloyd P. Aiello, M.D., Ph.D., Beetham Eye Institute, Joslin
Diabetes Center, Boston, Mass.
Lewis S. Blevins, Jr., M.D., Endocrinology, Vanderbilt University,
Nashville, Tennessee
Michael Brown, O.D., Veterans Administration, Huntsville, Alabama
Jerry D. Cavallerano, Ph.D., Optometry, Joslin Diabetes Center,
Boston, Massachusetts
Emily Y. Chew, M.D., Ophthalmology, National Eye Institute,
Bethesda, Maryland
Daniel Choo, M.D., Otolaryngology, Children’s Hospital
Medical Center, Cincinnati, Ohio
Debra L. Collins, M.S., Department of Genetics, University
of Kansas Medical Center, Kansas City
Graeme Eisenhofer, Ph.D., Endocrinology, U.S. National Institutes
of Health, Bethesda, Maryland
Yasser El-Sayed, M.D., Obstetrics, Stanford University Medical
Center, Palo Alto, California
Joal Fischer, M.D. and Tina B. Farney, SupportWorks, Charlotte,
North Carolina
Vincent Giovannucci, O.D., medical cartoonist, Auburn, Massachusetts
Gladys M. Glenn, M.D., Ph.D., Cancer Epidemiology and Genetics,
National Institutes of Health, Bethesda, Maryland
Michael B. Gorin, M.D., Ophthalmology, University of Pittsburgh,
Pennsylvania
Jane Green, M.S., Ph.D., Community Medicine, Health Sciences
Center, St. John’s, Newfoundland, Canada
David Gross, M.D., Endocrinology, Hadassah Hospital, Jerusalem,
Israel
Pascal Hammel, M.D., Gastroenterology, Hôpital Beaujon,
Clichy, France
Yujen Edward Hsia, M.D., Medical Genetics, Retired, Honolulu,
Hawaii
Howard Hughes Medical Institute, Chevy Chase, Maryland
G. P. James, M.S., Medical writer, and Frank James, Illustrator,
Springfield, Ohio
William G. Kaelin, Jr., Genetics, Dana-Farber Cancer Institute,
Boston, Massachusetts
Jeffrey Kim, M.D., Neurotology, National Institute of Neurological
Disorders and Stroke, Bethesda, Maryland
James M. Lamiell, M.D., Clinical Investigation Regulatory Office,
AMEDDC&S, Fort Sam Houston, Texas
Jacques W. M. Lenders, M.D., Internal Medicine, St. Radboud
University Hospital, Nymegen, the Netherlands
Richard Alan Lewis, M.D., M.S., Ophthalmology, Pediatrics and
Genetics, Cullen Eye Institute, Baylor College of Medicine,
Houston, Texas
John Libertino, M.D., Urology, Lahey Clinic, Burlington, Massachusetts
Steven K. Libutti, M.D., Endocrinology, National Cancer Institute,
Bethesda, Maryland
W. Marston Linehan, Chief, Urologic Oncology, National Cancer
Institute, Bethesda, Maryland
Cornelius J. M. Lips, M.D., Department of Internal Medicine,
University Hospital, Utrecht, the Netherlands.
Joseph A. Locala, M.D., Psychiatry and Psychology, Cleveland
Clinic Foundation, Cleveland, Ohio
Russell R. Lonser, M.D., Surgical Neurology Branch, National
Institute of Neurological Disorders and Stroke, Bethesda, Maryland
Eamonn R. Maher, M.D., Medical Genetics, University of Birmingham,
Birmingham, England, U.K.
Virginia V. Michels, M.D., Chair, Department of Medical Genetics,
Mayo Clinic, Rochester, Minnesota
Haring J.W. Nauta, M.D., Ph.D., Neurosurgery, University of
Texas, Galveston, Texas
Hartmut P. H. Neumann, M.D., Department of Nephrology, Albert-Ludwigs
University, Freiburg, Germany, and the VHL Study Group in Germany
Andrew Novick, M.D., Urology, Cleveland Clinic Foundation,
Cleveland, Ohio
Edward H. Oldfield, M.D., Surgical Neurology Branch, National
Institute of Neurological Disorders and Stroke, Bethesda, Maryland
The Illustration Studios of Stansbury, Ronsaville, Wood
Stéphane Richard, M.D., Ph.D., Oncogenetics, Faculté
de Médecine, Paris-Sud and Bicêtre Hospital, Le
Kremlin-Bicêtre, France, and the International French-Speaking
VHL Study Group
Armand Rodriguez, M.D., Internal Medicine, Fort Lauderdale,
Florida
R. Neil Schimke, M.D., Ph.D., Endocrinology and Genetics, University
of Kansas Medical Center, Kansas City, Kansas
Taro Shuin, M.D., Urology, Kochi Medical School, Kochi, Japan
McClellan M. Walther, M.D., Urologic Oncology, National Cancer
Institute, Bethesda, Maryland
Robert B. Welch, M.D., Emeritus Professor of Ophthalmology,
Johns Hopkins University School of Medicine and Greater Baltimore
Medical Center, Baltimore, Maryland
Gary L. Wood, Psy.D., Psychology, Wood and Associates, Tampa,
Florida
Berton Zbar, M.D., Chief, Laboratory of Immunobiology, National
Cancer Institute, Frederick Cancer Research and Development
Center, Frederick, Maryland
|
