Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes.

Abstract

Hemangioblastomas are rare vascularized central nervous system tumors, which can occur sporadically or be associated with von Hippel Lindau Syndrome. The pathogenesis of hemangioblastomas in von Hippel Lindau Syndrome is proposed to involve a pseudohypoxic intracellular state induced by dysregulation of hypoxia inducible factor alpha due to the absence of von Hippel Lindau protein complex mediated destruction. Dysregulation of fumarate hydratase, a tricarboxylic acid cycle enzyme, occurs in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome due to germline fumarate hydratase gene mutations, and also results in oncogenesis via hypoxia inducible factor alpha dysregulation. We present a case study of hemangioblastoma occurrence in a Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome patient and propose it as possible evidence of a phenotypic overlap between von Hippel Lindau and Hereditary Leiomyomatosis and Renal Cell Cancer Syndromes due to their overlapping role in the biochemical regulation of hypoxia inducible factor alpha.

• Authors: Eryn Dow, Ingrid M Winship
• Journal: Familial cancer (Fam Cancer) Vol. 18 Issue 1 Pg. 91-95 (01 2019) ISSN: 1573-7292 [Electronic] Netherlands
• PMID: 29619618 (Publication Type: Case Reports, Journal Article)

Chemical References

• HIF1A protein, human
• Hypoxia-Inducible Factor 1, alpha Subunit

Topics

• Autism Spectrum Disorder (genetics)
• Chromosome Deletion
• Chromosomes, Human, Pair 1 (genetics)
• Genetic Carrier Screening
• Hemangioblastoma (diagnosis, genetics, pathology)
• Humans
• Hypoxia-Inducible Factor 1, alpha Subunit (genetics)
• Leiomyomatosis (diagnosis, genetics, pathology)
• Male
• Middle Aged
• Neoplastic Syndromes, Hereditary (diagnosis, genetics, pathology)
• Pedigree
• Phenotype
• Skin (pathology)
• Skin Neoplasms (diagnosis, genetics, pathology)
• Uterine Neoplasms (diagnosis, genetics, pathology)
• von Hippel-Lindau Disease (diagnosis, genetics, pathology)