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ATM/CEP11 deletion 11q22.3 by FISH

Test Code

F ATM

Test Synonyms

11q22.3, del(11)(q22.3)

Associations

Chronic lymphocyctic leukemia (CLL)

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 at 2-8°C stable for 72 hours
Storage & Handling

Whole blood and bone marrow, ship ambient
Fresh tissue and 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

This probe set allows status assessment of the ATM gene region at 11q22.3. In a normal cell with two intact copies of the ATM gene region, a two green signal pattern is observed. In an abnormal cell with a deletion in the ATM gene region, fewer than two green signals are observed.

Description

B-cell chronic lymphocytic leukemia (B-CLL) is the most common leukemia in the elderly population. With conventional cytogenetic (CC) analysis, ~50% of CLL cases show clonal aberrations. Using FISH, the percentage of patients with abnormalities rises to almost 80%, the most frequent being 13q14, ATM, p53 deletions and trisomy 12. Genetic aberrations were found in 36.7% with CC and in 68.4% with FISH. The frequencies of abnormalities are approximately: 13q deletion, 42.1%; trisomy 12, 19.2%; ATM deletion, 17.5%; and TP53 deletion, 8.7%. FISH can detect this abnormality in interphase or metaphase cells.

References
  1. Ripollés Lorena et al.(2006). Cancer Genetics and Cytogenetics. 171:57e64.
  2. Sindelarova L et al. (2005). Incidence of chromosomal anomalies detected with FISH and their clinical correlations in B-chronic lymphocytic leukemia. Cancer Genet Cytogenet. 160(1):27.
  3. Bullrich F et al. (1999). ATM mutations in B-cell chronic lymphocytic leukemia. Cancer Research. 59:24.