Li–Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder that predisposes carriers to cancer development. It was named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni, Jr., who first recognized the syndrome after reviewing the medical records and death certificates of 648 childhood rhabdomyosarcoma patients. This syndrome is also known as the sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome. The syndrome is linked to germline mutations of the p53 tumor suppressor gene, which encodes a transcription factor (p53) that normally regulates the cell cycle and prevents genomic mutations. The mutations can be inherited, or can arise from mutations early in embryogenesis, or in one of the parents germ cells. Presentation
Li–Fraumeni syndrome is characterized by early onset of cancer, a wide variety of types of cancers, and development of multiple cancers throughout ones life. Pathology
LFS1: Mutations in TP53

Normal conditions: TP53 is a tumor suppressor gene on chromosome 17 that normally assists in the control of cell division and growth through action on the normal cell cycle. TP53 typically become expressed due to cellular stressors, such as DNA damage, and can halt the cell cycle to assist with either the repair of repairable DNA damage, or can induce apoptosis of a cell with irreparable damage. The repair of "bad" DNA, or the apoptosis of a cell, prevents the proliferation of damaged cells. Mutant conditions: Mutations of TP53 can inhibit its normal function, and allow cells with damaged DNA to continue to divide.
Diversion colitis is an inflammation of the colon which can occur as a complication of ileostomy or colostomy, where symptoms may occur between one month and three years following surgery. It also occurs frequently in a neovagina created by colovaginoplasty, with varying delay after the original procedure. Despite the presence of a variable degree of inflammation the most suggestive histological feature remains the prominent lymphoid aggregates. Symptoms and signs
People may be asymptomatic but common symptoms are abdominal discomfort, anorectal pain, mucous discharge and rectal bleeding that develops from the inflamed mucosa of the distal, unused colon. Diagnosis
Diagnosis is aided by knowing the full clinical history. Treatment
In many milder cases after ileostomy or colostomy, diversion colitis is left untreated and disappears naturally. Possible pharmacologic treatments include short-chain fatty acid irrigation, steroid enemas and mesalazine. For surgical candidates, reanastomosis is a reversal procedure carried out to restore bowel continuity that effectively halts the symptoms of diversion colitis. == References ==