title: Targeted sequencing may facilitate differential diagnostics of pulmonary tumours: a case series.
abstract: BACKGROUND
  Histopathological diagnosis is important for prognostication and choice of treatment in patients with cancer in the lung. Metastases to the lungs are common and need to be distinguished from primary lung cancer. Furthermore, cases with synchronous or metachronous primary lung cancers (although infrequent) are often handled differently than cases with lung cancer with intrapulmonary metastasis or relapse, respectively. In some cases, morphology and immunohistochemical staining is not sufficient for certain diagnosis.
  
  
  METHODS
  The present study included six cases where molecular genetic analysis in form of pyrosequencing or targeted next-generation sequencing was of value for certain diagnosis of selected tumours in the lung.
  
  
  RESULTS
  Two of the included cases were rare metastases to the lung; colorectal cancer with IHC profile consistent with primary lung cancer and malignant adenomyoepithelioma of the breast, respectively, where molecular genetic analysis was of aid for proving the relationship to the primary tumour. The other four cases were multiple lung adenocarcinomas where molecular genetic analysis was of aid to distinguish between intrapulmonary metastasis and synchronous tumour.
  
  
  CONCLUSIONS
  Comparison of molecular genetic profile may be an important tool for determination of relationship between tumours in some situations and should always be considered in unclear cases. Further studies on concordance and discordance of molecular genetic profiles between spatially or temporally different tumours with common origin may be helpful for improved diagnostics of pulmonary tumours.
authors.affiliation: Department of Pathology, Regional Laboratories Region Skåne, SE-221 85, Lund, Sweden.
authors.forename: Kajsa
authors.initials: K
authors.lastname: Ericson-Lindquist
authors.affiliation: Department of Pathology, Regional Laboratories Region Skåne, SE-221 85, Lund, Sweden.
authors.forename: Anna
authors.initials: A
authors.lastname: Johansson
authors.affiliation: Department of Pathology, Regional Laboratories Region Skåne, SE-221 85, Lund, Sweden.
authors.forename: Per
authors.initials: P
authors.lastname: Levéen
authors.affiliation: Department of Pathology, Örebro University Hospital, SE-701 85, Örebro, Sweden.
authors.forename: Göran
authors.initials: G
authors.lastname: Elmberger
authors.affiliation: Department of Clinical Sciences in Lund, Division of Oncology and Pathology, Lund University, SE-221 00, Lund, Sweden.
authors.forename: Göran
authors.initials: G
authors.lastname: Jönsson
authors.affiliation: Department of Clinical Sciences in Lund, Division of Oncology and Pathology, Lund University, SE-221 00, Lund, Sweden.
authors.forename: Johan
authors.initials: J
authors.lastname: Staaf
authors.affiliation: Department of Pathology, Regional Laboratories Region Skåne, SE-221 85, Lund, Sweden. hans.brunnstrom@med.lu.se.|Department of Clinical Sciences in Lund, Division of Oncology and Pathology, Lund University, SE-221 00, Lund, Sweden. hans.brunnstrom@med.lu.se.
authors.forename: Hans
authors.initials: H
authors.lastname: Brunnström
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D000077192:Adenocarcinoma of Lung; D055331:Adenomyoepithelioma / Q000235:genetics* / Q000556:secondary / Q000628:therapy; D000368:Aged; D014408:Biomarkers, Tumor / Q000235:genetics*; D001706:Biopsy; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D003937:Diagnosis, Differential; D005260:Female; D020869:Gene Expression Profiling / Q000379:methods*; D020022:Genetic Predisposition to Disease; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007150:Immunohistochemistry; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology / Q000556:secondary / Q000628:therapy; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011237:Predictive Value of Tests; D017422:Sequence Analysis, DNA; D059467:Transcriptome
chemical_list: D014408:Biomarkers, Tumor
keywords: Lung cancer; Metastasis; NGS; Pyrosequencing; Synchronous