Definition

The NTRK1 gene encodes the TRKA receptor tyrosine kinase; when it forms a fusion with other genes, the kinase becomes constitutively active and an oncogenic driver. NTRK fusions occur in fewer than 1% of all cancers but are found at very high frequency in rare tumors such as secretory breast/salivary gland carcinoma, infantile fibrosarcoma and congenital mesoblastic nephroma; they are used to guide histology-independent (tumor-agnostic) targeted therapy decisions.

Method

FISH analysis

Accepted sample types

Fresh tumor tissue, FFPE

Description

Response to drug treatment.

Inheritance

NTRK fusions are almost always somatic events; they arise in tumor tissue and do not show inherited transmission.

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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