Multi-Generational Review of Oncologic Tumors in a Family With TP53 Mutation Presenting With a Pediatric Patient With Osteosarcoma and Lung Acinar Adenocarcinoma

TP53 mutation, Li-Fraumeni syndrome (LFS), is a syndrome that leads to a hereditary cancer predisposition. Here we describe the case of a 13-year-old male who presented with osteosarcoma, family history of LFS, who developed a second primary tumor of the lung. No other similar cases have been report...

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Autores principales: Butt, Henna, Munchel, Ashley, York, Teresa, Macatangay, Regina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8448272/
https://www.ncbi.nlm.nih.gov/pubmed/34540492
http://dx.doi.org/10.7759/cureus.17271
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author Butt, Henna
Munchel, Ashley
York, Teresa
Macatangay, Regina
author_facet Butt, Henna
Munchel, Ashley
York, Teresa
Macatangay, Regina
author_sort Butt, Henna
collection PubMed
description TP53 mutation, Li-Fraumeni syndrome (LFS), is a syndrome that leads to a hereditary cancer predisposition. Here we describe the case of a 13-year-old male who presented with osteosarcoma, family history of LFS, who developed a second primary tumor of the lung. No other similar cases have been reported. After this osteosarcoma diagnosis, he had pre-operative imaging, which included a positron emission tomography (PET) combined with CT (PET/CT) chest. This revealed a subpleural nodule in the lung of unclear etiology. After completing initial therapy, a repeat chest CT showed that the nodule persisted. Pathology revealed an acinar adenocarcinoma. This tumor is not common in pediatric LFS patients.
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spelling pubmed-84482722021-09-17 Multi-Generational Review of Oncologic Tumors in a Family With TP53 Mutation Presenting With a Pediatric Patient With Osteosarcoma and Lung Acinar Adenocarcinoma Butt, Henna Munchel, Ashley York, Teresa Macatangay, Regina Cureus Pediatrics TP53 mutation, Li-Fraumeni syndrome (LFS), is a syndrome that leads to a hereditary cancer predisposition. Here we describe the case of a 13-year-old male who presented with osteosarcoma, family history of LFS, who developed a second primary tumor of the lung. No other similar cases have been reported. After this osteosarcoma diagnosis, he had pre-operative imaging, which included a positron emission tomography (PET) combined with CT (PET/CT) chest. This revealed a subpleural nodule in the lung of unclear etiology. After completing initial therapy, a repeat chest CT showed that the nodule persisted. Pathology revealed an acinar adenocarcinoma. This tumor is not common in pediatric LFS patients. Cureus 2021-08-18 /pmc/articles/PMC8448272/ /pubmed/34540492 http://dx.doi.org/10.7759/cureus.17271 Text en Copyright © 2021, Butt et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pediatrics
Butt, Henna
Munchel, Ashley
York, Teresa
Macatangay, Regina
Multi-Generational Review of Oncologic Tumors in a Family With TP53 Mutation Presenting With a Pediatric Patient With Osteosarcoma and Lung Acinar Adenocarcinoma
title Multi-Generational Review of Oncologic Tumors in a Family With TP53 Mutation Presenting With a Pediatric Patient With Osteosarcoma and Lung Acinar Adenocarcinoma
title_full Multi-Generational Review of Oncologic Tumors in a Family With TP53 Mutation Presenting With a Pediatric Patient With Osteosarcoma and Lung Acinar Adenocarcinoma
title_fullStr Multi-Generational Review of Oncologic Tumors in a Family With TP53 Mutation Presenting With a Pediatric Patient With Osteosarcoma and Lung Acinar Adenocarcinoma
title_full_unstemmed Multi-Generational Review of Oncologic Tumors in a Family With TP53 Mutation Presenting With a Pediatric Patient With Osteosarcoma and Lung Acinar Adenocarcinoma
title_short Multi-Generational Review of Oncologic Tumors in a Family With TP53 Mutation Presenting With a Pediatric Patient With Osteosarcoma and Lung Acinar Adenocarcinoma
title_sort multi-generational review of oncologic tumors in a family with tp53 mutation presenting with a pediatric patient with osteosarcoma and lung acinar adenocarcinoma
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8448272/
https://www.ncbi.nlm.nih.gov/pubmed/34540492
http://dx.doi.org/10.7759/cureus.17271
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