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

[cowden syndrome]

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 .V al 53 A sp 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 .

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Diseases presenting "and is associated with germline mutations in the pten gene" symptom

cowden syndrome

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