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Li-Fraumeni syndrome 1(LFS)

MedGen UID:: 322656
•Concept ID:: C1835398
•: Disease or Syndrome

Synonym:	LFS

Gene (location): Gene(s) directly associated with this condition or phenotype.	TP53 (17p13.1)

OMIM®:	151623

Definition

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. The lifetime risk of cancer in individuals with LFS is =70% for men and =90% for women. Five cancer types account for the majority of LFS tumors: adrenocortical carcinomas, breast cancer, central nervous system tumors, osteosarcomas, and soft-tissue sarcomas. LFS is associated with an increased risk of several additional cancers including leukemia, lymphoma, gastrointestinal cancers, cancers of head and neck, kidney, larynx, lung, skin (e.g., melanoma), ovary, pancreas, prostate, testis, and thyroid. Individuals with LFS are at increased risk for cancer in childhood and young adulthood; survivors are at increased risk for multiple primary cancers. [from GeneReviews]

Additional description

From MedlinePlus Genetics
The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome.

A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.

Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. https://medlineplus.gov/genetics/condition/li-fraumeni-syndrome

Clinical features

From HPO

Nephroblastoma

MedGen UID:: 10221
•Concept ID:: C0027708
•: Neoplastic Process

The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.

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Osteosarcoma

MedGen UID:: 10501
•Concept ID:: C0029463
•: Neoplastic Process

A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.

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Prostate neoplasm

MedGen UID:: 18697
•Concept ID:: C0033578
•: Neoplastic Process

A benign, borderline, or malignant neoplasm that affects the prostate gland. Representative examples include benign prostate phyllodes tumor, prostatic intraepithelial neoplasia, prostate carcinoma, and prostate sarcoma.

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Acute leukemia

MedGen UID:: 43225
•Concept ID:: C0085669
•: Neoplastic Process

A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).

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Lung adenocarcinoma

MedGen UID:: 57744
•Concept ID:: C0152013
•: Neoplastic Process

A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.

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Adrenal cortex carcinoma

MedGen UID:: 104917
•Concept ID:: C0206686
•: Neoplastic Process

A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.

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Malignant tumor of prostate

MedGen UID:: 138169
•Concept ID:: C0376358
•: Neoplastic Process

A cancer of the prostate.

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Soft tissue sarcoma

MedGen UID:: 1642116
•Concept ID:: C4551687
•: Neoplastic Process

A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues.

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Colon cancer

MedGen UID:: 2839
•Concept ID:: C0007102
•: Neoplastic Process

A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.

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Neoplasm of the pancreas

MedGen UID:: 18279
•Concept ID:: C0030297
•: Neoplastic Process

A tumor (abnormal growth of tissue) of the pancreas.

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Choriocarcinoma

MedGen UID:: 40278
•Concept ID:: C0008497
•: Neoplastic Process

A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors.

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Breast carcinoma

MedGen UID:: 146260
•Concept ID:: C0678222
•: Neoplastic Process

The presence of a carcinoma of the breast.

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Abnormality of prenatal development or birth
- Choriocarcinoma
Abnormality of the breast
- Breast carcinoma
Abnormality of the digestive system
- Colon cancer
- Neoplasm of the pancreas
Neoplasm

Term Hierarchy

Professional guidelines

PubMed

NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.

Daly MB, Pal T, Maxwell KN, Churpek J, Kohlmann W, AlHilli Z, Arun B, Buys SS, Cheng H, Domchek SM, Friedman S, Giri V, Goggins M, Hagemann A, Hendrix A, Hutton ML, Karlan BY, Kassem N, Khan S, Khoury K, Kurian AW, Laronga C, Mak JS, Mansour J, McDonnell K, Menendez CS, Merajver SD, Norquist BS, Offit K, Rash D, Reiser G, Senter-Jamieson L, Shannon KM, Visvanathan K, Welborn J, Wick MJ, Wood M, Yurgelun MB, Dwyer MA, Darlow SD
J Natl Compr Canc Netw 2023 Oct;21(10):1000-1010. doi: 10.6004/jnccn.2023.0051. PMID: 37856201

Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Goggins M, Hutton ML; CGC, Karlan BY, Khan S, Klein C, Kohlmann W; CGC, Kurian AW, Laronga C, Litton JK, Mak JS; LCGC, Menendez CS, Merajver SD, Norquist BS, Offit K, Pederson HJ, Reiser G; CGC, Senter-Jamieson L; CGC, Shannon KM, Shatsky R, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Yurgelun MB, Darlow SD, Dwyer MA
J Natl Compr Canc Netw 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001. PMID: 33406487

American Association of Clinical Endocrinology Disease State Clinical Review on the Evaluation and Management of Adrenocortical Carcinoma in an Adult: a Practical Approach.

Kiseljak-Vassiliades K, Bancos I, Hamrahian A, Habra M, Vaidya A, Levine AC, Else T
Endocr Pract 2020 Nov;26(11):1366-1383. Epub 2020 Dec 14 doi: 10.4158/DSCR-2020-0567. PMID: 33875173 Free PMC Article

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