Cancer genes, multiple primary cancer, and von Hippel-Lindau disease

Henry T. Lynch, David Allan Katz, Patrick Bogard, Jane F. Lynch

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Von Hippel-Lindau disease is inherited by an autosomal dominant gene that may show marked expressive variability of cancer phenotype in certain patients/families. We describe a patient with a strongly positive family history of this disease who, at age 28, underwent craniotomy with removal of a cystic cerebellar hemangioblastoma; at age 48, he developed syringomyelia of the spinal cord, became quadriplegic, and had a progressive downhill course. At autopsy, hemangioblastomas of the cerebellum and spinal cord were found, as well as a left renal cell carcinoma, an oat cell carcinoma of the lung, a hepatocellular carcinoma, and an atypical thyroid adenoma. This tumor spectrum appears to be unique, although chance cannot be excluded. It is possible, however, that these findings might represent an expression of the deleterious genotype that became evident because of this patient's prolonged survival from his initial cerebellar hemangioblastoma.

Original languageEnglish
Pages (from-to)13-19
Number of pages7
JournalCancer Genetics and Cytogenetics
Volume16
Issue number1
DOIs
StatePublished - Mar 1 1985

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Hemangioblastoma
von Hippel-Lindau Disease
Neoplasm Genes
Spinal Cord
Syringomyelia
Dominant Genes
Neoplasms
Craniotomy
Small Cell Lung Carcinoma
Thyroid Neoplasms
Renal Cell Carcinoma
Cerebellum
Hepatocellular Carcinoma
Autopsy
Genotype
Phenotype
Survival

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Genetics
  • Molecular Biology

Cite this

Cancer genes, multiple primary cancer, and von Hippel-Lindau disease. / Lynch, Henry T.; Katz, David Allan; Bogard, Patrick; Lynch, Jane F.

In: Cancer Genetics and Cytogenetics, Vol. 16, No. 1, 01.03.1985, p. 13-19.

Research output: Contribution to journalArticle

Lynch, Henry T. ; Katz, David Allan ; Bogard, Patrick ; Lynch, Jane F. / Cancer genes, multiple primary cancer, and von Hippel-Lindau disease. In: Cancer Genetics and Cytogenetics. 1985 ; Vol. 16, No. 1. pp. 13-19.
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