Li-Fraumeni syndrome


Also found in: Dictionary, Thesaurus, Acronyms, Encyclopedia, Wikipedia.
Related to Li-Fraumeni syndrome: neurofibromatosis, sarcoma, Lynch syndrome, Neurofibromatosis Type 1, Turcot syndrome

Li-Fraumeni syndrome

SBLA syndrome An AD condition with ↑ risk of multiple malignancies––eg, sarcomas, carcinomas of adrenal cortex, breast, larynx and lung, brain tumors, leukemia and lymphomas at any time from infancy to adulthood, due to a defect in the p53 tumor suppressor gene

Li-Fraumeni syndrome

[Fredrick Pei Li, Chinese-born U.S. epidemiologist, b. 1940; Joseph F. Fraumeni, Jr., U.S. epidemiologist, b. 1933]
An inherited condition in which individuals develop multiple primary tumors, including breast cancer, osteosarcoma, chondrosarcoma, soft tissue sarcoma, brain tumors, adrenal cortex tumors, etc. Mutations of the p53 gene on chromosome 17 are responsible for this disease.
References in periodicals archive ?
12) The 2 women who required mastectomy were at high risk for breast cancer, 1 because of prior radiation therapy and 1 with Li-Fraumeni syndrome whose DCIS involved a large area of the breast.
Friend also led one of the earlier groups that studied Li-Fraumeni syndrome.
Germ-line transmission of mutated p53 gene in cancer prone family with Li-Fraumeni syndrome.
Li-Fraumeni Syndrome (LFS) is an inherited genetic disorder that greatly increases the risk of developing several types of cancer typically with initial occurrence at a young age.
Through its European subsidiary, Gendux, ADVEXIN has received Orphan Medicinal Product Designation by the European Medicines Agency for Li-Fraumeni Syndrome.
Talbott, senior vice president of worldwide commercial development and regulatory affairs at both Introgen and Gendux said, "We are very encouraged by the recognition of the unique ability of ADVEXIN to treat the tumors of Li-Fraumeni Syndrome cancer patients without the toxicity that characterizes many other anti-cancer treatments.
The pattern of p53 expression by immunohistochemical studies suggests this individual has a de novo germline mutation affecting p53 gene expression, which could be characterized as a Li-Fraumeni syndrome, even though the clinically defining criteria are not fulfilled.
Introgen's senior vice president, World Wide Commercial Development and Regulatory Affairs stated, "The encouraging data reported today will support the Li-Fraumeni Syndrome Orphan Drug Designation Request recently filed in Europe.
Nasdaq: INGN) presented important data describing the beneficial effects and key markers of clinical activity in a cancer patient with Li-Fraumeni Syndrome (LFS), a genetic disorder characterized by inherited mutations in the p53 tumor suppressor gene.
Additionally, data are being presented demonstrating clinical benefit of ADVEXIN in a patient with a rare inherited form of cancer known as Li-Fraumeni Syndrome (LFS), a genetic disorder characterized by inherited mutations in the p53 tumor suppressor gene.
Introgen recently announced it will provide ADVEXIN p53 therapy for compassionate use to treat qualified cancer patients suffering from Li-Fraumeni Syndrome.
Introgen will discuss other recent developments and announcements, including its decision to make ADVEXIN therapy available on a compassionate use basis for patients with Li-Fraumeni Syndrome cancers.