Proceedings of the the Second International VHL Symposium Honolulu, Hawaii, June 17-21, 1996

Hawai'i Ma'i 'A 'ai i na 'Ohana

Cancer in Families Second International VHL Symposium Honolulu, Hawai'i, June 17-21, 1996

Inherited Mutations in the VHL Gene

Table of Contents:

• VHL Symposium Committee
• Sponsors
• Greetings from the VHL Family Alliance
• Agenda and list of Posters
• Abstracts
• Index of Contributors to sessions and posters
• Report on 2nd International VHL Symposium
• Ordering Information -- Sessions on Audio or Video Tape, T-Shirts, etc.
• Return to menu of meetings reports
  

The diagram is of the VHL gene, with known inherited mutations, mostly as published by Chen F, Kishida T, Yao M, et al: Germ line mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Human Mutation (1995) 5:66-75. The rectangles represent the three exons of the VHL gene. The two start signals are indicated by "AUG". The cross hatched area is where the GXEEX pentanucleotide repeat is found. Arrows above the boxes indicate insertions; lines within the boxes are at deletion break-points. Color codes for the nucleotides is: green = A, purple = T, red = G, and yellow = C. Arrrows below the boxes indicate missense substitutions. Yellow is for C>G, Brown for C>T, Olive for C>A. Blue is for T>A, light blue for T>C. Light green is for A>C, dark green for A>G. The mutation in the Hawai'ian Family has an asterisk; the arrows span the PCR-amplified sequence used for mutation analysis in this family.

• Rodney and Vanessa Belen
• J. Michael Lamiell
• Cornelius J.M. Lips
• Janet Brumblay
• Hartmut P.H. Neumann
• Joyce W. Graff
• Rev. David Torres
• Y.E. "Ted" Hsia
• Berton Zbar
• With Assistance from: Debra L. Collins, Patti Kohlen
• Registration Coordinator: Jodi Gregor

This conference was made possible through the generosity of our sponsors, whose kind contributions have enabled us to meet the many costs beyond the registration fees.

• Anonymous: Some donors have asked to remain anonymous.
• Bristol-Meyers Pharmaceutical Research Institute,
• Children's Miracle Network,
• Audrey and Donald Clifton,
• Dr. Gladys Glenn,
• Family of Dr. Frank Warren Graff,
• Hawai'i Emergency Physicians' Association, Inc.,
• Dr. Thomas Kosasa,
• Dr. J. Michael Lamiell,
• Pacific-Southwest Regional Genetic Network,
• Rev. David Torres,
• Trinity Lutheran Church and Schools,
• University of Hawai'i Department of Genetics,
• VHL Family Alliance,
• Dr. Berton Zbar.

We are grateful to Dr. Neumann, violin, and Jackie Nishi, Piano, for the delightful music they played for us at lunch time on Thursday.

Aloha and welome to Hawai'i. The Hawai'ian family and the VHL Family Alliance are pleased to welcome you to the home of the first extensive VHL family mapping project, begun in 1977, which led 16 years later to the finding and description of the VHL gene.

That effort is an example of the powerful synergy that comes when families and professionals work together toward a common goal. The medical professionals have the training and skills which we need; they have the expertise, but to improve knowledge and treatment for VHL, they need information that only we can provide. The families know the whole human experience first hand. The scientists know how to analyze data at the molecular level. By combining our information, each of us gains; we all win.

We welcome you in that spirit of teamwork and cooperation, to this Halawai'i Ma'i 'A 'ai i na 'Ohana, to this gathering of our extended family of caring people, working together to cure this disease. By learning from the clues provided in all the different types of cancers that run in families, we hope to find out how to end all cancers - not only for ourselves, but for everyone in the world.

-- Rev. David Torres, Chair, Hawai'i Chapter, VHLFA
-- Joyce Wilcox Graff, Chair, VHL Family Alliance

• Monday, 17 Jun 1996
  • 7:30 Registration
    8:15 Y.E. "Ted" Hsia ~ Introductory Remarks. [Intro]
    8:30 M. James Lamiell ~ History of VHL. [101]
    9:30-10:00 Refreshment Break
    10:00 Hartmut P. H. Neumann ~ VHL: progress, problems, and prospects. [102]
    11:00 Joyce W. Graff ~ VHL: consumer concerns, needs and hopes. [103]
    12:00 - 1:30 ~ Lunch
    1:30 Debra Schmidt ~ Nursing assessment in cancer. [104]
    2:25 Susan Seto-Donlon Breast cancer screening. [105]
    3:15-3:30 ~ Refreshment Break
    3:30 Ginnie Coggins ~ Nursing management in cancer. [106]

  Tuesday, 18 Jun 1996

  • 8:30 David Torres ~ Spiritual coping. [201]
    9:15 Y.E. "Ted" Hsia ~ Alternate medicine. [202]
    10:00-10:30 ~ Refreshment Break
    10:30 Jeanne S. Hoffman ~ Life and living. [203]
    11:15 Joan McCarthy ~ Burnout: rekindling the flame. [204]
    12:00-1:30 Lunch
    1:30 Jane Hill ~ Keep laughing to keep healthy. [205]
    2:15 Kelly Hill ~ Komen Kids. [206]
    2:45-3:00 ~ Refreshment Break
    3:00 Jeanne S. Hoffman ~ Family coping. [207]
    3:45 Janet Brumblay ~ Talking about Cancer. [208]
    10:45 Collins Debbie ~ Consumer Issues
    7:00 Berton Zbar ~ Cancer in families: a model for cancer prevention and treatment, and a priceless resource for gene discovery. [209]
    

  Wednesday 19 Jun 1996

  • 8:30 P. Grimbert ~ Pregnancy in von Hippel Lindau disease. [301]
    8:40 Greigh Hirata ~ Hemorrhage into a Spinal Cord Tumor in a Pregnant Woman who was at Risk for Von Hippel Lindau Disease. [302]
    8:50 Greigh Hirata ~ Cancer and Pregnancy. [303]
    9:30 Ruth D. Merz ~ Establishing a Registry. [304]
    10:15-10:30 ~ Refreshment Break
    10:30 Debra L. Collins ~ Screening complexities and costs: insurance, privacy, and confidentiality. [305]
    11:10 Gladys M. Glenn ~ Screening, diagnosis, and monitoring in VHL. [306]
    11:50-12:00 ~ Discussion on Screening
    12:00-1:30 ~ Lunch
    1:30 Robert B. Welch ~ Ocular manifestations history, management and long term follow-up [307. Dr. Welch was unable to attend; session rescheduled for Bethesda 97]
    2:15 Michael H Foerster ~ Conventional Treatment for Retinal Hemangioblastoma in VHL . [308].
    3:00 K. Michael Kreusel ~ Vitreoretinal surgery and radiation therapy as alternative treat-ent modalities in advanced capillary hemangioma of the retina. [308]
    2:10 Foerster Robert ~ Ocular aspects of vHL.[Part of session 308]
    3:15-3:30 ~ Refreshment Break
    3:30 Gladys M. Glenn ~ Diagnostic Imaging in VHL. [309]
    5:00 ~ Pick-up for LUAU [Buses will leave promptly]
    

  Thursday 20 Jun 1996

  • 8:30 Taro Shuin ~ Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. [401]
    9:00 Frederik J. Hes ~ Genotype/phenotype correlation in Dutch VHL families. [402]
    9:10 Eigil Kjeldsen ~ von Hippel-Lindau's disease in Denmark: past, present and future. [403]
    9:20 S. Olschwang ~ Genomic characterization of alterations associated with the VHL disease in France. [404]
    9:30 Andrew C. Novick ~ Kidney cancer and kidney failure in VHL. [405]
    10:15-10:30 ~ Refreshment Break
    10:30 ~ Discussion on Renal disease in VHL
    11:15 Hartmut Neumann ~ Lesions of endocrine organs in von Hippel-Lindau disease. [406]
    Chamberlin MJ ~ Basic mechanisms of transcript elongation by RNA polymerases. [406a]
    12:00-1:30 ~ Lunch with Music by H Neumann (violin), J. Nishi (piano)
    1:30 Cornelius J.M. Lips ~ Renal cell carcinoma in von Hippel-Lindau disease: Strategies in early detection and treatment. [407]
    2:10 Dominique Chauveau ~ Renal involvement in 43 consecutive patients with von Hippel-Lindau (VHL) disease. [408]
    2:20 Nobuo Shinohara ~ Nephron-sparing operation for renal cell carcinoma in von Hippel-Lindau disease. [409]
    2:30 Laura Schmidt ~ A Canadian family with hereditary papillary renal carcinoma. [410]
    2:40-3:00 ~ Discussion on clinical aspects of renal carcinoma in VHL.
    3:00-3:30 ~ Refreshment Break
    3:30 Rudolf Scheremet ~ Hemangioblastomas of the central nervous system - why, when and how to operate on them microsurgically. [411]
    4:15-4:30 ~ Discussion on Neurosurgery for VHL.
    7:00 Gladys Glenn ~ Renal cell carcinoma: familial and sporadic types, molecular genetics. [412]
    7:45 William Kaelin ~ Prospects for new anti-cancer drugs, based on tumor suppressor genes. [413]
    

  Friday 21 Jun 1996

  • 8:30 William Kaelin ~ Functional analysis of the von Hippel-Lindau gene product. [501]
    9:15 Stéphane Richard ~ Pathology of hemangioblastomas and endolymphatic sac tumors. [502]
    10:00-10:30 ~ Refreshment Break
    10:30 Hiltrud Brauch ~ Somatic VHL mutations in clear cell renal carcinomas. [503]
    11:10 Christophe Béroud ~ Detection of VHL gene mutations in sporadic renal cell carcinoma and development of a VHL database. [504]
    11:20 H. Jochen Decker ~ Mutational analysis of the von Hippel Lindau tumor suppressor gene in 106 sporadic renal cell carcinomas: involvement of the clear cell type as well as the chromophilic type. [505]
    11:30 Hiroshi Kanno ~ Frequent somatic mutations and loss of heterozygosity of the VHL tumor suppressor gene in sporadic central nervous system hemangioblastomas. [506]
    11:40 ~ Discussion on sporadic and inherited renal cell carcinoma.
    12:00-1:30 ~ Lunch
    1:30 Michael Chamberlin ~ Basic mechanisms of transcript elongation by RNA poly-merases. [507]
    2:10 Thomas Stackhouse ~ Phosphorylation of the von Hippel Lindau disease tumor suppressor protein by casein kinase II. [508]
    2:20-2:30 ~ Discussion on basic mechanisms
    2:30 Nikolai Kley ~ Characterization of the VHL tumor suppressor gene and VHL knock-out mice. [509]
    3:15-3:45 ~ Refreshment Break
    3:45 Berton Zbar ~ Final Summary.
    

• [A1] Maher et al. ~ Genotype-Phenotype Correlations in VHL
  
• [A2] Hsia et al. ~ Mutation Screening for von Hippel Lindau Disease [VHL] in a Large Kindred.
  
• [A3] Kempermann et al. ~ Deafness due to bilateral endolymphatic sac tumours in a case of von Hippel-Lindau syndrome.
• [999] Mutation Detection for VHL in a Large Kindred.Hsia YE
• [999] Genotype-Phenotype Correlations in von Hippel-Lindau Disease.Maher Eamon

More on Symposium '96, Hawaii

• Go to Table of Contents
• Go to Monday's abstracts (100's)
• Go to Tuesday's abstracts (200's)
• Go to Wednesday's abstracts (300's)
• Go to Thursday's abstracts (400's)
• Go to Friday's abstracts (500's) and poster abstracts
• Report on 2nd International VHL Symposium
• Ordering Information -- Sessions on Audio or Video Tape, T-Shirts, etc

• Return to menu of meetings reports
  

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