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Targeted sequencing may facilitate differential diagnostics of pulmonary tumours: a case series.
Department of Pathology, Regional Laboratories Region Skåne, Lund, Sweden.
Department of Pathology, Regional Laboratories Region Skåne, Lund, Sweden.
Department of Pathology, Regional Laboratories Region Skåne, Lund, Sweden.
Örebro University Hospital. Department of Pathology, Örebro University Hospital, Örebro, Sweden.
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2017 (English)In: Diagnostic Pathology, ISSN 1746-1596, E-ISSN 1746-1596, Vol. 12, no 1, 31Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
BioMed Central, 2017. Vol. 12, no 1, 31
Keyword [en]
Lung cancer, Metastasis, NGS, Pyrosequencing, Synchronous
National Category
Clinical Laboratory Medicine
Identifiers
URN: urn:nbn:se:oru:diva-57359DOI: 10.1186/s13000-017-0621-8PubMedID: 28347348Scopus ID: 2-s2.0-85016156042OAI: oai:DiVA.org:oru-57359DiVA: diva2:1097053
Note

Regional Agreement on Medical Training and Clinical Research (ALF, Swedish government funding)  

Swedish Cancer Society  

Mrs Berta Kamprad Foundation  

Gunnar Nilsson Cancer Foundation  

Crafoord Foundation  

BioCARE Strategic Research Program at Lund University  

Gustav V Jubilee Foundation 

Available from: 2017-05-22 Created: 2017-05-22 Last updated: 2017-10-18Bibliographically approved

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