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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Detalles Bibliográficos
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
Descripción
Sumario: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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