p53, 17p13-, del(17)(p13,1)
Chronic lymphocytic leukemia (CLL), B-cell prolymphocytic leukemia (PLL), B-cell lymphoproliferative disorder (LPD), Myeloma
Fluorescence in situ Hybridization (FISH)
5mL peripheral blood in sodium heparin
3mL bone marrow in sodium heparin
Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid
4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells
In a normal cell, two orange, two green signal pattern is observed. An abnormal cell results in the one orange, two green signal pattern.
The p53 tumor suppressor gene is one of the most frequently mutated genes in human cancer with mutations and deletions identified in a wide range of solid tumors and hematological disorders. In hematological disease, p53 gene alterations have been found in 60-80% of Hodgkin disease; 30% of adult T-cell leukemia; 30% of high grade B-cell NHL (rare in low grade NHL); 20-30% of blast crisis CML cases; 5% of MDS; 15% of AML; 15% of CLL; 5-10% of multiple myelomas; and 2% of ALL. Alterations of the p53 gene in hematological malignancies are generally associated with a poor prognosis.
Among solid tumors, p53 is implicated in the Li-Fraumeni syndrome, an inherited cancer-prone disorder often characterized by more than one primary tumor, with tumors often occurring at an earlier age than expected. These include soft tissue sarcomas occurring before the age of 5 years, followed by osteosarcoma, and early onset breast cancer. Among solid tumors, p53 is implicated in cancers of the lung, colon, bladder, breast, skin, esophagus, liver, gastrointestinal tract, cervix, head and neck, ovaries and prostate as well as in melanoma.
FISH can detect this rearrangement in either interphase or metaphase cells.