Definition

The deletion at 11q22.3 encompasses the ATM gene; the ATM protein is a critical kinase that becomes activated in response to double-strand breaks and governs the DNA damage response pathway. In patients with del(11q), median overall survival is 9 to 11 years, placing them in the intermediate-to-poor prognosis group in the Dohner hierarchy. In patients with loss of ATM function, progression-free survival is markedly shortened (23 months versus 44 months), and this defect is associated with resistance to DNA-damaging chemotherapy.

Method

FISH analysis

Accepted Sample Types

Peripheral blood, Bone marrow (heparin), Fresh tumor tissue, FFPE

Description

CLL diagnosis and monitoring.

Inheritance

The 11q22.3/ATM deletion seen in CLL is an acquired somatic abnormality in tumor cells (different from ataxia-telangiectasia syndrome, which is caused by hereditary ATM mutations).

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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