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Diagnostic Pathology
Published in: Diagnostic Pathology 1/2017

Open Access 01-12-2017 | Research

Targeted sequencing may facilitate differential diagnostics of pulmonary tumours: a case series

Authors: Kajsa Ericson-Lindquist, Anna Johansson, Per Levéen, Göran Elmberger, Göran Jönsson, Johan Staaf, Hans Brunnström

Published in: Diagnostic Pathology | Issue 1/2017

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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.
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Metadata
Title
Targeted sequencing may facilitate differential diagnostics of pulmonary tumours: a case series
Authors
Kajsa Ericson-Lindquist
Anna Johansson
Per Levéen
Göran Elmberger
Göran Jönsson
Johan Staaf
Hans Brunnström
Publication date
01-12-2017
Publisher
BioMed Central
Published in
Diagnostic Pathology / Issue 1/2017
Electronic ISSN: 1746-1596
DOI
https://doi.org/10.1186/s13000-017-0621-8

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