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

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 cl...

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Autores principales: Li, Jinglin, Qi, Huiwei, Xu, Bingxin, Zhao, Jing, Gao, Hongjun, Ma, Xiya, Liu, Xiaoqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917606/
https://www.ncbi.nlm.nih.gov/pubmed/31921629
http://dx.doi.org/10.3389/fonc.2019.01360
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author Li, Jinglin
Qi, Huiwei
Xu, Bingxin
Zhao, Jing
Gao, Hongjun
Ma, Xiya
Liu, Xiaoqing
author_facet Li, Jinglin
Qi, Huiwei
Xu, Bingxin
Zhao, Jing
Gao, Hongjun
Ma, Xiya
Liu, Xiaoqing
author_sort Li, Jinglin
collection PubMed
description 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 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.
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spelling pubmed-69176062020-01-09 Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report Li, Jinglin Qi, Huiwei Xu, Bingxin Zhao, Jing Gao, Hongjun Ma, Xiya Liu, Xiaoqing Front Oncol Oncology 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 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. Frontiers Media S.A. 2019-12-11 /pmc/articles/PMC6917606/ /pubmed/31921629 http://dx.doi.org/10.3389/fonc.2019.01360 Text en Copyright © 2019 Li, Qi, Xu, Zhao, Gao, Ma and Liu. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Li, Jinglin
Qi, Huiwei
Xu, Bingxin
Zhao, Jing
Gao, Hongjun
Ma, Xiya
Liu, Xiaoqing
Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report
title Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report
title_full Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report
title_fullStr Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report
title_full_unstemmed Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report
title_short Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report
title_sort genomic profiles of a patient of pulmonary hepatoid adenocarcinoma with high afp level: a case report
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917606/
https://www.ncbi.nlm.nih.gov/pubmed/31921629
http://dx.doi.org/10.3389/fonc.2019.01360
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