ATM deletion 11q22.3
Test Code
F ATM
Test Synonyms
11q22.3, del(11)(q22.3)
Associations
Chronic lymphocyctic leukemia (CLL)
Methodology
Fluorescence in situ Hybridization (FISH)
CPT Codes
- 88367 - Morphometric analysis, in situ hybridization, automated
- 88368 - Morphometric analysis, in situ hybridization, manual
Turnaround Time
3 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 in MPLN RPMI media
- 3.0 mL (min. 2.0 mL) FNA in MPLN RPMI media
- 10% neutral buffered formalin fixed paraffin embedded tissue
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, FNA or paraffin embedded tissue, 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; Improper fixative
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
- Ripollés Lorena et al.(2006). Cancer Genetics and Cytogenetics. 171:57e64.
- 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.
- Bullrich F et al. (1999). ATM mutations in B-cell chronic lymphocytic leukemia. Cancer Research. 59:24.