title: Genetic profile of second primary tumors and recurrences in head and neck squamous cell carcinomas.
abstract: BACKGROUND
  Second primary tumors and recurrences are an important problem in patients with head and neck squamous cell carcinoma. The purpose of this study was to determine the genetic changes in tumor samples to improve knowledge of tumor progression.
  
  
  METHODS
  Copy number changes of 37 genes were analyzed by multiplex ligation-dependent probe amplification (MLPA) in 36 primary tumors and their corresponding 21 second primary tumors and 15 recurrences.
  
  
  RESULTS
  CCND1 and EMS1 amplifications and gain of BCL2L1 were the most common genetic alterations in the primary tumor, second primary tumor, and recurrence samples. Gains of ERBB2 and PTPN1 were associated with recurrences.
  
  
  CONCLUSIONS
  Specific genetic profiles for each group have been found. Similarities between primary tumor and second primary tumor and dissimilarity between primary tumor and recurrence suggest that clinicopathological criteria do not always accurately differentiate these entities. Genetic profiling may aid in the diagnosis and prognosis of these difficult cases.
authors: Department of Otorhinolaryngology, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain.
authors: Virginia Franco
authors: VF
authors: Gutiérrez
authors: César Álvarez
authors: CÁ
authors: Marcos
authors: José Luis
authors: JL
authors: Llorente
authors: Marta Alonso
authors: MA
authors: Guervós
authors: Francisco Domínguez
authors: FD
authors: Iglesias
authors: Luis Argüelles
authors: LA
authors: Tamargo
authors: Mario
authors: M
authors: Hermsen
mesh_terms: D000328:Adult; D000368:Aged; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology; D002401:Cathepsin B / Q000235:genetics; D018797:Cell Cycle Proteins / Q000235:genetics; D051356:Cortactin / Q000235:genetics; D003430:Cross-Sectional Studies; D019938:Cyclin D1 / Q000235:genetics; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D020869:Gene Expression Profiling; D006801:Humans; D020382:Interleukin-18 / Q000235:genetics; D034904:Lamin Type A / Q000235:genetics; D007822:Laryngeal Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009364:Neoplasm Recurrence, Local / Q000235:genetics; D016609:Neoplasms, Second Primary / Q000235:genetics* / Q000473:pathology; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D015513:Oncogene Proteins / Q000235:genetics; D010610:Pharyngeal Neoplasms / Q000235:genetics* / Q000473:pathology; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1 / Q000235:genetics; D016601:RNA-Binding Proteins; D018719:Erb-b2 Receptor Tyrosine Kinases / Q000235:genetics; D012189:Retrospective Studies; D014157:Transcription Factors / Q000235:genetics; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics; D051020:bcl-X Protein / Q000235:genetics
chemical_list: D002401:Cathepsin B; D018797:Cell Cycle Proteins; D051356:Cortactin; D019938:Cyclin D1; D019941:Cyclin-Dependent Kinase Inhibitor p16; D004268:DNA-Binding Proteins; D020382:Interleukin-18; D034904:Lamin Type A; D008565:Membrane Proteins; D015513:Oncogene Proteins; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D016601:RNA-Binding Proteins; D018719:Erb-b2 Receptor Tyrosine Kinases; D014157:Transcription Factors; D016159:Tumor Suppressor Protein p53; D025521:Tumor Suppressor Proteins; D051020:bcl-X Protein; C494811:BCL2L1 protein, human; C530104:CCND1 protein, human; C495868:CTTN protein, human; C494847:LMNA protein, human; C117302:MFHAS1 protein, human; C495901:TP53 protein, human; C524338:TUSC3 protein, human; C468286:UPF2 protein, human; C508053:ERBB2 protein, human; C516607:PTPN1 protein, human; C533912:CTSB protein, human