title: Bronchioloalveolar carcinoma: a new cancer in Peutz-Jeghers syndrome.
abstract: 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.
authors.affiliation: Institute of Pathology, University of Heidelberg, Heidelberg, Germany. Pathology@vonHerbay.de
authors.forename: A
authors.initials: A
authors.lastname: von Herbay
authors.forename: N
authors.initials: N
authors.lastname: Arens
authors.forename: W
authors.initials: W
authors.lastname: Friedl
authors.forename: I
authors.initials: I
authors.lastname: Vogt-Moykopf
authors.forename: K
authors.initials: K
authors.lastname: Kayser
authors.forename: K M
authors.initials: KM
authors.lastname: Müller
authors.forename: W
authors.initials: W
authors.lastname: Back
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D002282:Adenocarcinoma, Bronchiolo-Alveolar / Q000209:etiology* / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D002888:Chromosomes, Human, Pair 19; D016147:Genes, Tumor Suppressor; D006801:Humans; D019656:Loss of Heterozygosity; D008175:Lung Neoplasms / Q000209:etiology* / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010580:Peutz-Jeghers Syndrome / Q000150:complications* / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases