Li-Fraumeni syndrome
अंतिम अद्यतन 18 Aug 2020
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Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.
विवरण
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 tumours, 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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
LFS
Sarcoma family syndrome of Li and Fraumeni
Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome
SBLA syndrome
Related patient information and medicines
Patient information leaflet
Rhabdomyosarcoma
ए rhabdomyosarcoma is a type of soft tissue sarcoma. Rhabdomyosarcomas grow in the muscles of the body. ... The exact causes of rhabdomyosarcomas are unknown. Rhabdomyosarcomas are slightly more common in children with certain genetic disorders such as neurofibromatosis or Li-Fraumeni syndrome. Soft tissue sarcomas may occur in an area that has.
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स्लीप एपनिया
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गर्दन की पसली
About 1 in 100 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. This happens if the cervical rib squashes the nerves and blood vessels going into the arm. Treatment can include painkillers, physiotherapy and sometimes surgery to relieve the compression caused.
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कम्पार्टमेंट सिंड्रोम
Compartment syndrome occurs due to increased pressure within a confined space, or compartment, in the body. It can occur in the hand, the forearm, the upper arm, the buttocks, the leg, the foot and the tummy (abdomen). Compartment syndrome most commonly occurs in the leg below the knee. Acute compartment syndrome (occurring over a short period of.
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कुशिंग सिंड्रोम
कुशिंग सिंड्रोम है caused by too high a level of glucocorticoid in यह body. This can be caused by taking steroid medication long-term (the common cause) or by the body making too much cortisol (the main glucocorticoid made by the body). Symptoms usually develop gradually and so the diagnosis (other than that caused by steroid medication) may.
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जटिल क्षेत्रीय दर्द सिंड्रोम (सीआरपीएस)
जटिल क्षेत्रीय दर्द सिंड्रोम है a debilitating, painful condition in a limb, associated with nerve, skin and bone abnormalities. The condition often follows an injury to that limb. However, there is no relationship to the severity of the injury, and in some cases there is no history of any injury. It usually affects one limb, but can later.
अधिक पठन और संदर्भ
- Li-Fraumeni syndrome; MedlinePlus, National Library of Medicine.
- Batalini F, Peacock EG, Stobie L, Robertson A, Garber J, Weitzel JN, Tung NM. Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis. Breast Cancer Res. 2019 Sep 18;21(1):107. doi: 10.1186/s13058-019-1193-1.
- Chompret A. The Li-Fraumeni syndrome. Biochimie. 2002 Jan;84(1):75-82. doi: 10.1016/s0300-9084(01)01361-x.
- Gargallo P, Yanez Y, Segura V, Juan A, Torres B, Balaguer J, Oltra S, Castel V, Canete A. Li-Fraumeni syndrome heterogeneity. Clin Transl Oncol. 2020 Jul;22(7):978-988. doi: 10.1007/s12094-019-02236-2. Epub 2019 Nov 5.
- Kratz CP, Achatz MI, Brugieres L, Frebourg T, Garber JE, Greer MC, Hansford JR, Janeway KA, Kohlmann WK, McGee R, Mullighan CG, Onel K, Pajtler KW, Pfister SM, Savage SA, Schiffman JD, Schneider KA, Strong LC, Evans DGR, Wasserman JD, Villani A, Malkin D. Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. Clin Cancer Res. 2017 Jun 1;23(11):e38-e45. doi: 10.1158/1078-0432.CCR-17-0408.
- Melean G, Sestini R, Ammannati F, Papi L. Genetic insights into familial tumors of the nervous system. Am J Med Genet C Semin Med Genet. 2004 Aug 15;129C(1):74-84. doi: 10.1002/ajmg.c.30022.
- Moule RN, Jhavar SG, Eeles RA. Genotype phenotype correlation in Li-Fraumeni syndrome kindreds and its implications for management. Fam Cancer. 2006;5(2):129-33. doi: 10.1007/s10689-005-4522-8. No abstract available.
- Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res. 2003 Oct 15;63(20):6643-50.
- Strong LC. General keynote: hereditary cancer: lessons from Li-Fraumeni syndrome. Gynecol Oncol. 2003 Jan;88(1 Pt 2):S4-7; discussion S11-3. doi: 10.1006/gyno.2002.6673. No abstract available.
- Varley JM. Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat. 2003 Mar;21(3):313-20. doi: 10.1002/humu.10185.
- Wong P, Verselis SJ, Garber JE, Schneider K, DiGianni L, Stockwell DH, Li FP, Syngal S. Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. Gastroenterology. 2006 Jan;130(1):73-9. doi: 10.1053/j.gastro.2005.10.014.
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