Small cell lung cancer with SYN2::PPARG fusion
INTRODUCTIONSmall cell lung cancer (SCLC) accounts for 15% of lung cancers worldwide. It is an aggressive tumor that is typically diagnosed at an advanced stage. Treatment involves chemo-immunotherapy and/or radiotherapy. Identifying druggable targets activated by specific genetic alterations repres...
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Published in | Pathology, research and practice Vol. 251; p. 154904 |
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Main Authors | , , , , |
Format | Report |
Language | English |
Published |
01.11.2023
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Online Access | Get full text |
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Summary: | INTRODUCTIONSmall cell lung cancer (SCLC) accounts for 15% of lung cancers worldwide. It is an aggressive tumor that is typically diagnosed at an advanced stage. Treatment involves chemo-immunotherapy and/or radiotherapy. Identifying druggable targets activated by specific genetic alterations represents a significant challenge in improving patient outcomes.METHODSWe conducted a retrospective examination of molecular findings in lung cancer patients' records from 2021 to 2022. We discovered a unique case of SCLC harboring the SYN2-PPARG fusion. Histopathological analysis confirmed the diagnosis of SCLC.CASE REPORTA 60-year-old woman, a heavy smoker, came to our attention due to a persistent cough with slight hemoptysis. Imaging, including axial contrast-enhanced computed tomography, revealed an advanced disease with extra-thoracic spread. Tumor histology showed a sheet-like proliferation of small-sized cells with a neuroendocrine phenotype and a high proliferation tumor cell fraction. Molecular genetic analysis using NGS approach revealed a fusion involving the SYN2 and PPARG genes.CONCLUSIONThe SYN2-PPARG fusion has recently been documented in sinonasal adenocarcinoma and has been reported in only a single SCLC case previously. Highlighting the molecular heterogeneity within this aggressive form of lung cancer could potentially aid in the selection of specific therapies. |
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Bibliography: | ObjectType-Case Study-2 content type line 59 SourceType-Reports-1 ObjectType-Report-1 |
ISSN: | 1618-0631 |
DOI: | 10.1016/j.prp.2023.154904 |