Definition

The t(15;17)(q24;q21) translocation joins the PML gene with the RARA gene to form the PML-RARA fusion gene; this fusion is found in 95 to 98% of acute promyelocytic leukemia (APL) cases. The PML-RARα fusion protein blocks myeloid differentiation at the promyelocyte stage, leading to the accumulation of abnormal promyelocytes. APL is a hematologic emergency requiring urgent diagnosis and immediate initiation of ATRA due to the risk of differentiation syndrome and early bleeding; cure rates above 90% are achieved with ATRA/arsenic trioxide therapy.

Method

FISH analysis

Accepted sample types

Peripheral blood, bone marrow (heparin), blood (heparin)

Description

Diagnosis and monitoring of AML.

Inheritance

The PML-RARA fusion is a subsequently acquired/somatic mutation in blood cells; it is not found in germline DNA and is not hereditary.

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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