Bronchioloalveolar carcinoma: a new cancer in Peutz-Jeghers syndrome

Besides gastrointestinal hamartomatous polyposis and melanin spots in the skin and mucosa, patients with the Peutz-Jeghers syndrome (PJS) have repeatedly been observed with a variety of tumours, including lung cancer. Available data indicate an increased cancer risk among PJS patients, which suggest...

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Veröffentlicht in:Lung cancer (Amsterdam, Netherlands) Netherlands), 2005-02, Vol.47 (2), p.283-288
Hauptverfasser: von Herbay, A., Arens, N., Friedl, W., Vogt-Moykopf, I., Kayser, K., Müller, K.M., Back, W.
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container_end_page 288
container_issue 2
container_start_page 283
container_title Lung cancer (Amsterdam, Netherlands)
container_volume 47
creator von Herbay, A.
Arens, N.
Friedl, W.
Vogt-Moykopf, I.
Kayser, K.
Müller, K.M.
Back, W.
description Besides gastrointestinal hamartomatous polyposis and melanin spots in the skin and mucosa, patients with the Peutz-Jeghers syndrome (PJS) have repeatedly been observed with a variety of tumours, including lung cancer. Available data indicate an increased cancer risk among PJS patients, which suggests that the gene involved in PJS, STK11 on chromosome 19p13.3, may be a tumour suppressor gene. Herein, bronchioloalveolar carcinoma (BAC) of mucinous type is reported in a 22-year old male PJS patient with a novel germline frameshift insertion in exon 2 at codon 118 of the STK11 gene. Molecular studies of his BAC indicated loss of heterozygosity (LOH) in the region of STK11 on chromosome 19p13.3. This observation supports the hypothesis that STK11 is a tumour suppressor gene which is involved in the development of lung adenocarcinoma.
doi_str_mv 10.1016/j.lungcan.2004.06.015
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subjects Adenocarcinoma
Adenocarcinoma, Bronchiolo-Alveolar - etiology
Adenocarcinoma, Bronchiolo-Alveolar - genetics
Adult
Base Sequence
Biological and medical sciences
Bronchioloalveolar carcinoma
Chromosomes, Human, Pair 19
Dermatology
Genes, Tumor Suppressor
Humans
Loss of Heterozygosity
Lung cancer
Lung Neoplasms - etiology
Lung Neoplasms - genetics
Male
Medical sciences
Molecular Sequence Data
Peutz-Jeghers syndrome
Peutz-Jeghers Syndrome - complications
Peutz-Jeghers Syndrome - genetics
Pigmentary diseases of the skin
Pneumology
Polymerase Chain Reaction
Protein-Serine-Threonine Kinases - genetics
STK11/ LKB1 gene
Tumors of the respiratory system and mediastinum
title Bronchioloalveolar carcinoma: a new cancer in Peutz-Jeghers syndrome
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