Dataset Information

Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report.

ABSTRACT: Hepatoid adenocarcinoma of lung (HAL) is a rare and aggressive tumor. The current study reported a new HAL case in the right lower lung with high serum ?-fetoprotein (AFP) level in a 71-year-old male patient. After the confirmation of morphology and immunohistochemistry, the patient was diagnosed clinically with HAL and treated with radio-frequency ablation. However, the patient whose disease progressed eventually died 4 months after diagnosis. Whole genome sequencing analysis identified a driver gene mutation in the FAT atypical cadherin 1 gene (FAT1) and the copy number loss. The tumor was microsatellite-stable and tumor mutation burden (TMB) was 1.69 mutations/Mb. PD-L1 expression was negative by IHC. Our finding provide further clues for the molecular basis of HAL and the efficacy of immunotherapy needs to be explored.

SUBMITTER: Li J

PROVIDER: S-EPMC6917606 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report.

Li Jinglin J Qi Huiwei H Xu Bingxin B Zhao Jing J Gao Hongjun H Ma Xiya X Liu Xiaoqing X

Frontiers in oncology 20191211

Hepatoid adenocarcinoma of lung (HAL) is a rare and aggressive tumor. The current study reported a new HAL case in the right lower lung with high serum α-fetoprotein (AFP) level in a 71-year-old male patient. After the confirmation of morphology and immunohistochemistry, the patient was diagnosed clinically with HAL and treated with radio-frequency ablation. However, the patient whose disease progressed eventually died 4 months after diagnosis. Whole genome sequencing analysis identified a drive ...[more]

PMID: 31921629

Similar Datasets

Project description:BackgroundAs a rare subtype of lung adenocarcinoma, the diagnosis of pulmonary enteric adenocarcinoma (PEAC) remains challenging due to overlapping morphologic spectrum with lung metastatic colorectal cancer (lmCRC). However, the molecular features of PEAC as a separate lung cancer entity are poorly understood.MethodsWe performed whole-exome sequencing and targeted bisulfite sequencing of 32 PEAC and 30 lmCRC to improve differential molecular characterization of the two diseases. We used machine learning methods to select key markers and developed a diagnostic classifier. In addition, we validated the classifier in the internal test cohort and an independently recruited external validation cohort with 17 PEAC and 7 lmCRC.FindingsOur results showed that EGFR was the key driver mutation in PEAC but at a lower prevalence compared to typical lung adenocarcinomas, whereas ERBB2 and KRAS were more frequently observed in PEAC. By contrast, we observed significant enrichment of KRAS and APC mutations in lmCRC compared with PEAC. At the chromosome arm level, copy number variations in 13q, 14q, and 18p were the major chromosomal differences observed between PEAC and lmCRC. Furthermore, by comparing differentially methylated regions (DMRs), we established a neat DNA methylation-based classifier consisting of eight DMRs. This classifier correctly classified all samples in the training cohort and 95% of the samples in the internal test cohort. An external validation cohort of 24 cases recruited from multiple centers in China also reliably agreed with pathological diagnosis.InterpretationThese results provide solid evidence of PEAC-specific genomic characteristics and demonstrate the potential utility of DNA methylation markers for auxiliary diagnosis of PEAC and lmCRC.FundingThis work was supported by National key research and development project 2019YFC1315700, CAMS Key Laboratory of Translational Research on Lung Cancer (2018PT31035), and Beijing Natural Science Foundation (7222144).

Dataset Information

Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report.

Publications

Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets