scholarly journals Breast Metachronous Carcinoma and Sarcoma in a Young Patient Leading to the Diagnosis of Li-Fraumeni Syndrome

Oncogen ◽  
2019 ◽  
Vol 2 (1) ◽  
Author(s):  
Seidler SJ ◽  
Huber DE
Keyword(s):  
Young Patient ◽  
Li Fraumeni Syndrome ◽  
Metachronous Carcinoma ◽  
Li Fraumeni

Atypical fibroxanthoma arising in a young patient with Li-Fraumeni syndrome

2013 ◽  
Vol 41 (3) ◽  
pp. 303-307 ◽  
Author(s):  
Sun Mi Lee ◽  
Wei Zhang ◽  
Martin P. Fernandez
Keyword(s):  
Young Patient ◽  
Li Fraumeni Syndrome ◽  
Atypical Fibroxanthoma ◽  
Li Fraumeni

scholarly journals Metachronic Breast and Cerebellar Neoplasm in a Young Patient

2020 ◽  
Vol 42 (02) ◽  
pp. 114-119
Author(s):  
Jéssika de Oliveira Nascimento ◽  
Lara Caroline Anastacio Haro ◽  
Rafael da Silva Sá ◽  
Rebeca Espelho Storch
Keyword(s):  
Young Patient ◽  
Tp53 Gene ◽  
Mucinous Carcinoma ◽  
Breast Cancers ◽  
Li Fraumeni Syndrome ◽  
Cerebellar Neoplasm ◽  
Short Period ◽  
Dominant Disease ◽  
Desmoplastic Medulloblastoma ◽  
Li Fraumeni

AbstractSeveral factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype of invasive carcinoma, it most frequently affects women of advanced age and represents 1 to 7% of all breast cancers. The reported case aims to show the rarity of the occurrence of desmoplastic medulloblastoma and mammary mucinous carcinoma in a young patient in a short period of time, in different sites, without direct anatomical attachment and without occurrence of metastasis. Initially, this patient had a desmoplastic medulloblastoma and was treated with lumpectomy and radiotherapy. After 13 months, the patient was diagnosed with a mucinous breast carcinoma, underwent mastectomy, adjuvant chemotherapy and is currently undergoing endocrinotherapy. We conclude, based on the metachronous characteristic of the neoplasia and clinical characteristics, that the patient is likely to have Li-Fraumeni syndrome, an autosomal dominant disease with mutation of the TP53 gene, which is the the main involved. Because the patient does not present all the characteristics of the phenotype of the syndrome, she can thus be classified as having Li-Fraumeni variant or Li-Fraumeni-like syndrome.

scholarly journals Fourth Primary Malignant Tumor in a Patient with Possible Li-Fraumeni Syndrome: Synchronous Diagnosis of Postirradiation Sarcoma, Cutaneous Relapse of a Previous Soft Tissue Sarcoma, and Lung Adenocarcinoma

2014 ◽  
Vol 2014 ◽  
pp. 1-6
Author(s):  
Feridun Yumrukçal ◽  
Yalin Dirik ◽  
Arda Çinar ◽  
Levent Eralp
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Sarcoma ◽  
Lung Adenocarcinoma ◽  
Young Patient ◽  
Malignant Tumor ◽  
Malignant Tumors ◽  
Rare Entity ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni ◽  
Postirradiation Sarcoma

We present a 46-year-old female patient who is diagnosed with synchronous postirradiation sarcoma, cutaneous relapse of a previous soft tissue sarcoma, and lung adenocarcinoma. More than one malignant tumor at the same time with an accompanying relapse of a previous malignant tumor is a rare entity. A relatively young patient diagnosed with adenocarcinoma of the urethra before age 40, which is an unusual tumor for that age, later three more different malignant tumors being diagnosed, two of which are synchronous, causes the suspicion of Li-Fraumeni syndrome.

scholarly journals Orbital Sarcoma in a Young Patient With Li-Fraumeni Syndrome

2012 ◽  
Vol 130 (5) ◽  
Author(s):  
Tahrina Salam ◽  
Sachin M. Salvi ◽  
Caroline Thaung ◽  
Geoffrey E. Rose
Keyword(s):  
Young Patient ◽  
Li Fraumeni Syndrome ◽  
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

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
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