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Li-Fraumeni syndrome 2(TPDS4)

MedGen UID:
1849727
Concept ID:
C5882668
Disease or Syndrome
Synonyms: CANCER PREDISPOSITION SYNDROME, CHEK2-RELATED; TPDS4; TUMOR PREDISPOSITION SYNDROME 4
 
Gene (location): CHEK2 (22q12.1)
 
OMIM®: 609265

Definition

Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.

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. [from MedlinePlus Genetics]

Clinical features

From HPO
Sarcoma
MedGen UID:
224714
Concept ID:
C1261473
Neoplastic Process
A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.
Gastric cancer
MedGen UID:
44264
Concept ID:
C0024623
Neoplastic Process
In a review article on the genetic predisposition to gastric cancer, Bevan and Houlston (1999) concluded that several genes may be associated with an increased risk of gastric cancer. Gastric cancer is a manifestation of a number of inherited cancer predisposition syndromes, including hereditary nonpolyposis colon cancer (HNPCC1; see 120435), familial adenomatous polyposis (FAP; 175100), Peutz-Jeghers syndrome (PJS; 175200), Cowden disease (CD; 158350), the Li-Fraumeni syndrome (151623), and diffuse gastric and lobular breast cancer syndrome (DGLBC; 137215). Canedo et al. (2007) provided a review of genetic susceptibility to gastric cancer in patients infected with Helicobacter pylori (see 600263).
Glioma
MedGen UID:
9030
Concept ID:
C0017638
Neoplastic Process
The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).
Meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
Breast carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
The presence of a carcinoma of the breast.

Suggested Reading

Recent clinical studies

Diagnosis

Severino NP, Waisberg J, Fragoso MCBV, de Lima LGCA, Balsamo F, Henriques AC, Bianco B, de Sousa Gehrke F
J Med Case Rep 2022 Dec 19;16(1):468. doi: 10.1186/s13256-022-03671-6. PMID: 36529791Free PMC Article

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