Oncological Follow-up with 2-[(18)F]-FDG PET/CT in Li-Fraumeni Syndrome

Li-Fraumeni syndrome is a rare disorder caused by abnormalities of the tumor-suppressor protein P53 gene. We present the case of a 26-years-old female diagnosed with bilateral ductal carcinoma. The genetic panel for breast cancer gene 1 (BRCA1) and BRCA2 mutations was negative and positive heterozyg...

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Autores principales: Hernandez, Marylin Acuña, Vega Gonzalez, Iván Fabricio, Vélez, Lina López, Arango, Catalina Melo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2021
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8185483/
https://www.ncbi.nlm.nih.gov/pubmed/34082513
http://dx.doi.org/10.4274/mirt.galenos.2020.33255
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author Hernandez, Marylin Acuña
Vega Gonzalez, Iván Fabricio
Vélez, Lina López
Arango, Catalina Melo
author_facet Hernandez, Marylin Acuña
Vega Gonzalez, Iván Fabricio
Vélez, Lina López
Arango, Catalina Melo
author_sort Hernandez, Marylin Acuña
collection PubMed
description Li-Fraumeni syndrome is a rare disorder caused by abnormalities of the tumor-suppressor protein P53 gene. We present the case of a 26-years-old female diagnosed with bilateral ductal carcinoma. The genetic panel for breast cancer gene 1 (BRCA1) and BRCA2 mutations was negative and positive heterozygous germline tumor protein P53 gene mutations, considering Li-Fraumeni syndrome. A 2-[(18)F]-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) was used for postsurgical staging to show the right lung hypermetabolic nodule. A lobectomy was accomplished, and histopathology reported pulmonary adenocarcinoma. A year later, oncological follow-up was conducted with 2-[(18)F]-FDG PET/CT without evidence of abnormalities.
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spelling pubmed-81854832021-06-17 Oncological Follow-up with 2-[(18)F]-FDG PET/CT in Li-Fraumeni Syndrome Hernandez, Marylin Acuña Vega Gonzalez, Iván Fabricio Vélez, Lina López Arango, Catalina Melo Mol Imaging Radionucl Ther Interesting Image Li-Fraumeni syndrome is a rare disorder caused by abnormalities of the tumor-suppressor protein P53 gene. We present the case of a 26-years-old female diagnosed with bilateral ductal carcinoma. The genetic panel for breast cancer gene 1 (BRCA1) and BRCA2 mutations was negative and positive heterozygous germline tumor protein P53 gene mutations, considering Li-Fraumeni syndrome. A 2-[(18)F]-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) was used for postsurgical staging to show the right lung hypermetabolic nodule. A lobectomy was accomplished, and histopathology reported pulmonary adenocarcinoma. A year later, oncological follow-up was conducted with 2-[(18)F]-FDG PET/CT without evidence of abnormalities. Galenos Publishing 2021-06 2021-06-03 /pmc/articles/PMC8185483/ /pubmed/34082513 http://dx.doi.org/10.4274/mirt.galenos.2020.33255 Text en ©Copyright 2021 by Turkish Society of Nuclear Medicine | Molecular Imaging and Radionuclide Therapy published by Galenos Yayınevi. https://creativecommons.org/licenses/by-nc-nd/4.0/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 work is properly cited.
spellingShingle Interesting Image
Hernandez, Marylin Acuña
Vega Gonzalez, Iván Fabricio
Vélez, Lina López
Arango, Catalina Melo
Oncological Follow-up with 2-[(18)F]-FDG PET/CT in Li-Fraumeni Syndrome
title Oncological Follow-up with 2-[(18)F]-FDG PET/CT in Li-Fraumeni Syndrome
title_full Oncological Follow-up with 2-[(18)F]-FDG PET/CT in Li-Fraumeni Syndrome
title_fullStr Oncological Follow-up with 2-[(18)F]-FDG PET/CT in Li-Fraumeni Syndrome
title_full_unstemmed Oncological Follow-up with 2-[(18)F]-FDG PET/CT in Li-Fraumeni Syndrome
title_short Oncological Follow-up with 2-[(18)F]-FDG PET/CT in Li-Fraumeni Syndrome
title_sort oncological follow-up with 2-[(18)f]-fdg pet/ct in li-fraumeni syndrome
topic Interesting Image
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8185483/
https://www.ncbi.nlm.nih.gov/pubmed/34082513
http://dx.doi.org/10.4274/mirt.galenos.2020.33255
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