Definition

The deletion at 17p13.1 results in loss of one copy of the TP53 tumor suppressor gene; it is often accompanied by a TP53 mutation on the remaining allele and disrupts the function of the DNA damage response/apoptosis pathway. In patients with del(17p), median overall survival falls to 7 years; it is associated with low response rates and short response duration, and it is the worst prognosis group in the Dohner hierarchy.

Method

FISH analysis

Accepted Sample Types

Bone marrow, Blood (heparin), Lymphoid tissue

Description

CLL, MM, and NHL diagnosis and monitoring.

Inheritance

A somatic deletion acquired in the leukemic clone (it can rarely arise against a background of a hereditary TP53 mutation, but del(17p) in CLL is typically somatic).

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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