title: MUC5AC, cytokeratin 20 and HER2 expression and K-RAS mutations within mucinogenic growth in congenital pulmonary airway malformations.
abstract: OBJECTIVE
  To analyse the expression of several mucins (MUC1, MUC2, MUC3, MUC5AC and MUC6), epidermal growth factor receptor (EGFR), v-erb-b2 erythroblastic leukaemia viral oncogene homologue 2 (HER2), thyroid transcription factor-1 (TTF-1), caudal type homeobox 2 (CDX2) and cytokeratin 20 (CK20), and the presence of mutations of EGFR, KRAS and HER2 in congenital pulmonary airway malformations (CPAM).
  
  
  RESULTS
  Forty-one cases of CPAM and six pulmonary sequestrations were included. TTF-1 expression was observed in all cases but was not seen in mucinogenic growths in CPAM. CDX2 expression was completely negative. MUC1 expression was noted in 12 (29%) CPAM and in 33% sequestrations. MUC5AC was noted in only five cases (26%) by immunohistochemistry and was found in the mucinogenic proliferations of type 1 CPAM. No immunolabelling was noted for the other mucins. EGFR was expressed variably in almost all cases, while HER2 and CK20 was seen exclusively in the mucinogenic proliferations. All mucinous growths were characterized by KRAS mutations. No EGFR and HER2 gene alterations were identified.
  
  
  CONCLUSIONS
  KRAS mutations and MUC5AC, CK20 and HER2 expression was seen in all mucinogenic proliferations, supporting the neoplastic nature of these cytologically bland growths. These findings emphasize the importance of complete surgical resection of such lesions.
authors.affiliation: Section of Pathologic Anatomy, Azienda Ospedaliero-Universitaria Policlinico, Via del Pozzo 71, Modena, Italy. rossi.giulio@policlinico.mo.it
authors.forename: Giulio
authors.initials: G
authors.lastname: Rossi
authors.forename: Bernard
authors.initials: B
authors.lastname: Gasser
authors.forename: Giuliana
authors.initials: G
authors.lastname: Sartori
authors.forename: Mario
authors.initials: M
authors.lastname: Migaldi
authors.forename: Matteo
authors.initials: M
authors.lastname: Costantini
authors.forename: Maria Cecilia
authors.initials: MC
authors.lastname: Mengoli
authors.forename: Silvia
authors.initials: S
authors.lastname: Piccioli
authors.forename: Alberto
authors.initials: A
authors.lastname: Cavazza
authors.forename: Francesco
authors.initials: F
authors.lastname: Rivasi
mesh_terms: D002288:Adenocarcinoma, Mucinous / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D001998:Bronchopulmonary Sequestration / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005333:Fetus / Q000002:abnormalities / Q000378:metabolism / Q000473:pathology; D011905:Genes, ras; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007231:Infant, Newborn; D053554:Keratin-20 / Q000378:metabolism*; D008168:Lung / Q000002:abnormalities* / Q000378:metabolism* / Q000473:pathology; D008175:Lung Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D055271:Mucin 5AC / Q000378:metabolism*; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000378:metabolism; D018719:Erb-b2 Receptor Tyrosine Kinases / Q000378:metabolism*; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000378:metabolism; D055815:Young Adult
chemical_list: D017931:DNA Primers; D053554:Keratin-20; D055271:Mucin 5AC; D009687:Nuclear Proteins; D018719:Erb-b2 Receptor Tyrosine Kinases; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors; C524678:MUC5AC protein, human; C000614412:NKX2-1 protein, human; C508053:ERBB2 protein, human