New mutation in the PTEN gene in a Brazilian patient with Cowden's syndrome.

Arq Bras Endocrinol Metabol

Unidade de Tireoide, Laboratório de Endocrinologia Celular e Molecular, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.

Published: November 2012

AI Article Synopsis

  • Cowden syndrome involves hamartomatous polyps, trichilemmomas, a heightened risk of tumors, and is linked to mutations in the PTEN gene.
  • A study was conducted on a 49-year-old woman with trichilemmoma and a history of breast cancer and thyroid issues to investigate PTEN mutations.
  • A novel germline mutation in PTEN was discovered, alongside evidence of somatic loss of the wild-type PTEN allele in her breast and thyroid tumors.

Article Abstract

Cowden syndrome is characterized by hamartomatous polyps, trichilemmomas, increased risk of developing neoplasms, and is associated with germline mutations in the PTEN gene. We searched for germline mutations in PTEN in a 49-year-old female patient who presented trichilemmoma with previous history of breast carcinoma, and thyroidectomy for a thyroid nodule. We also searched for somatic mutations in breast and thyroid tumoral tissues. DNA was extracted from peripheral leukocytes, paraffin samples of breast carcinoma, and cytological smears of thyroid nodule fine-needle aspiration biopsy, whose final histopathological diagnosis was adenomatous goiter. PTEN was amplified and sequenced. We identified a novel mutation, due to a T>A inversion at position 159 and A>T inversion at position 160, leading to valine-to-aspartic acid substitution at position 53. The p.Val53Asp was also found in homozygous state in samples obtained from adenocarcinoma breast and thyroid biopsy, denoting loss of heterozygosity. Here, we demonstrated a novel germline mutation in PTEN, as well as somatic loss of the wild-type PTEN allele in breast and thyroid tumors in a patient with Cowden syndrome.

Download full-text PDF

Source
http://dx.doi.org/10.1590/s0004-27302012000800022DOI Listing

Publication Analysis

Top Keywords

breast thyroid
12
mutation pten
8
pten gene
8
cowden syndrome
8
germline mutations
8
mutations pten
8
breast carcinoma
8
thyroid nodule
8
inversion position
8
pten
5

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!