scholarly journals Characteristics of Li‐Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT

2021 ◽  
Author(s):  
Michinori Funato ◽  
Yukiko Tsunematsu ◽  
Fumito Yamazaki ◽  
Chieko Tamura ◽  
Tadashi Kumamoto ◽  
...  
Keyword(s):  
Special Committee ◽  
Li Fraumeni Syndrome ◽  
Review Study ◽  
Li Fraumeni

Li-Fraumeni syndrome and adrenal tumours: case report

2018 ◽  
Author(s):  
Mariana Tome ◽  
Jessica Guarino ◽  
Marta Iturregui
Keyword(s):  
Case Report ◽  
Li Fraumeni Syndrome ◽  
Adrenal Tumours ◽  
Li Fraumeni

Neuroradiology Manifestations of Li-Fraumeni Syndrome: Epidemiology, Genetics, Imaging Findings, and Management

Neurographics ◽  
2020 ◽  
Vol 10 (4) ◽  
pp. 228-235
Author(s):  
S. Naganawa ◽  
T. Donohue ◽  
A. Capizzano ◽  
Y. Ota ◽  
J. Kim ◽  
...  
Keyword(s):  
Cell Cycle ◽  
Tumor Suppressor ◽  
Tumor Suppressor Gene ◽  
Soft Tissue Sarcomas ◽  
Suppressor Gene ◽  
Imaging Findings ◽  
Li Fraumeni Syndrome ◽  
Increased Risk ◽  
Li Fraumeni ◽  
Risk Of Cancer

Li-Fraumeni syndrome is a familial cancer predisposition syndrome associated with germline mutation of the tumor suppressor gene 53, which encodes the tumor suppressor p53 protein. Affected patients are predisposed to an increased risk of cancer development, including soft-tissue sarcomas, breast cancer, brain tumors, and adrenocortical carcinoma, among other malignancies. The tumor suppressor gene TP53 plays an important, complex role in regulating the cell cycle, collaborating with transcription factors and other proteins. The disruption of appropriate cell cycle regulation by mutated TP53 is considered to be the cause of tumorigenesis in Li-Fraumeni syndrome. Appropriate surveillance, predominantly by using MR imaging, is used for early malignancy screening in an effort to improve the survival rate among individuals who are affected. Patients with Li-Fraumeni syndrome are also at increased risk for neoplasm development after radiation exposure, and, therefore, avoiding unnecessary radiation in both the diagnostic and therapeutic settings is paramount. Here, we review the epidemiology, genetics, imaging findings, and the current standard surveillance protocol for Li-Fraumeni syndrome from the National Comprehensive Cancer Network as well as potential treatment options.Learning Objective: Describe the cause of second primary malignancy among patients with Li-Fraumeni syndrome.

Spitzoid Melanoma in a Child with Li-Fraumeni Syndrome

2014 ◽  
Vol 17 (1) ◽  
pp. 64-69 ◽  
Author(s):  
Ramya Kollipara ◽  
Linda D. Cooley ◽  
Kimberly A. Horii ◽  
Maxine L. Hetherington ◽  
Philip E. LeBoit ◽  
...  
Keyword(s):  
Li Fraumeni Syndrome ◽  
Li Fraumeni

Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome

2021 ◽  
Author(s):  
Leatrisse Oba ◽  
Ana F. Best ◽  
Phuong L. Mai ◽  
Maria Isabel Achatz ◽  
Paul S. Albert ◽  
...  
Keyword(s):  
Cancer Screening ◽  
Li Fraumeni Syndrome ◽  
Blood Tests ◽  
Li Fraumeni

The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations

2009 ◽  
Vol 193 (1) ◽  
pp. 63-66 ◽  
Author(s):  
Alena Finkova ◽  
Alzbeta Vazna ◽  
Ondrej Hrachovina ◽  
Sarka Bendova ◽  
Kamila Prochazkova ◽  
...  
Keyword(s):  
Gene Promoter ◽  
Tp53 Gene ◽  
Tp53 Mutations ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

22. Masked hypodiploid B-Cell Lymphoblastic Leukemia (B-ALL) characterized by SNP microarray in a Li Fraumeni syndrome patient with post therapy karyotype changes

2021 ◽  
Vol 252-253 ◽  
pp. S8
Author(s):  
Mary M. Haag ◽  
Billie Carstens ◽  
Veronica McDaniel ◽  
Alex Ohene-Mobley ◽  
Jamie LeRoux ◽  
...  
Keyword(s):  
B Cell ◽  
Lymphoblastic Leukemia ◽  
Syndrome Patient ◽  
Li Fraumeni Syndrome ◽  
Snp Microarray ◽  
Li Fraumeni ◽  
Post Therapy

scholarly journals Chemoprevention with the metabolism modifying drugs dichloroacetate and metformin in the Li-Fraumeni Syndrome model, Trp53 +/- mice

2014 ◽  
Vol 2 (S1) ◽  
Author(s):  
Anneke C Blackburn ◽  
Melissa Rooke ◽  
Yiming Li ◽  
Jane E Dahlstrom ◽  
Philip G Board
Keyword(s):  
Li Fraumeni Syndrome ◽  
Li Fraumeni
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