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TP53 17p13 deletion by FISH

Test Code

F P53

Test Synonyms

p53, 17p13-, del(17)(p13,1)

Associations

Chronic lymphocytic leukemia (CLL), B-cell prolymphocytic leukemia (PLL), B-cell lymphoproliferative disorder (LPD), Myeloma

Methodology

Fluorescence in situ Hybridization (FISH)

Turnaround Time

3-5 days

Specimen Requirements

2.0 mL (min. 1.0 mL) peripheral blood in sodium heparin preferred, EDTA accepted
1.0 mL (min. 0.5 mL) bone marrow in sodium heparin preferred, EDTA accepted
5 mm^3 fresh tissue or 3.0 mL (min. 2.0 mL) FNA in MPLN RPMI media

Specimen Stability
Peripheral blood and bone marrow stable at 18-25°C for 72 hours
Fresh tissue or FNA stable at 2-8°C for 72 hours

Storage & Handling

Whole blood and bone marrow, ship ambient
Fresh tissue or FNA ship in a Styrofoam container with a cool/refrigerated pack (Do not allow cool pack to directly contact sample)

Causes for Rejection

Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells

Reference Range

In a normal cell, two orange, two green signal pattern is observed. An abnormal cell results in the one orange, two green signal pattern.

Description

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.

References
  1. Liu et al. (2002). P53 mutations: case study of a clinical marker for solid tumors. Semin Oncol. 29(3):246.
  2. Pratt G. (2002). Molecular aspects of multiple myeloma. J Clin Pathol: Mol Pathol. 55:273.
  3. Soussi T . (2002) P53 (Protein 53 kDa); TP53 (tumor protein p53 (Li-Fraumeni syndrome)). Atlas Genet Cytogenet Oncol Haematol.