Targeted sequencing may facilitate differential diagnostics of pulmonary tumours: a case series
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RESEARCH
Open Access
Targeted sequencing may facilitate differential diagnostics of pulmonary tumours: a case series Kajsa Ericson-Lindquist1, Anna Johansson1, Per Levéen1, Göran Elmberger2, Göran Jönsson3, Johan Staaf3 and Hans Brunnström1,3*
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. Keywords: Lung cancer, Metastasis, NGS, Pyrosequencing, Synchronous
Background Histopathological diagnosis is important for 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, and the treatment of primary lung cancer is dependent on histopathological type [1–3]. Furthermore, cases with synchronous or metachronous primary lung cancers (although infrequent [4, 5]) are often handled differently than cases with lung cancer with intrapulmonary metastasis or relapse, respectively. * Correspondence: [email protected] 1 Department of Pathology, Regional Laboratories Region Skåne, SE-221 85 Lund, Sweden 3 Department of Clinical Sciences in Lund, Division of Oncology and Pathology, Lund University, SE-221 00 Lund, Sweden Full list of author information is available at the end of the article
The basis for histopathological diagnosis is morphology, with the addition of immunohistochemical (IHC) staining when needed. For example, a limited panel of thyroid transcription factor 1 (TTF-1) in combination with estrogen receptor and GATA3 or with cytokeratin (CK) 7 and CK20 normally sepa
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