Analysis of PTEN mutation in non-familial pheochromocytoma

Janusz Puc, Grzegorz Placha, Bozenna Wocial, Katrina Podsypanina, Ramon Parsons, Zbigniew Gaciong

Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

7 Scopus citations

Abstract

PTEN, a tumor suppressor gene, is frequently mutated in a variety of human tumors. In mice, monoallelic inactivation of this gene predisposes animals to neoplasia of multiple organs. Interestingly, Pten heterozygous mice develop bilateral hyperplasia of the adrenal medulla. In this report we demonstrate that these neoplasms are hormonally active pheochromocytomas that secrete increased amounts of bioactive catecholamines: norepinephrine and epinephrine. To test a possibility that PTEN might be one of the genes responsible for human sporadic pheochromocytoma, we performed mutation analysis of DNA obtained from tumors of 29 patients. However, direct sequencing of all nine exons of the PTEN gene, including the splice junctions, revealed no mutations. Examination of protein expression by immunohistochemistry using 8 normal adrenals and 11 sporadic pheochromocytomas showed no decrease in the PTEN protein expression in the tumor tissue, but upregulation of insulin-like growth factor II, a peptide implicated in growth of adrenal tissue, was observed in four cases (36%).

Original languageEnglish
Title of host publicationPheochromocytoma
Subtitle of host publicationFirst International Symposium
PublisherBlackwell Publishing Inc.
Pages317-331
Number of pages15
ISBN (Print)1573315974, 9781573315975
DOIs
StatePublished - Aug 2006
Externally publishedYes

Publication series

NameAnnals of the New York Academy of Sciences
Volume1073
ISSN (Print)0077-8923
ISSN (Electronic)1749-6632

Keywords

  • IGF II
  • PTEN
  • Pheochromocytoma

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