학술논문

NTRKfusions in solid tumours: what every pathologist needs to know
Document Type
Article
Source
Pathology; 20230101, Issue: Preprints
Subject
Language
ISSN
00313025; 14653931
Abstract
Fusions involving the Neurotrophic tropomyosin tropomyosin receptor kinase(NTRK)gene family (NTRK1, NTRK2and NTRK3) are targetable oncogenic alterations that are found in a diverse range of tumours. There is an increasing demand to identify tumours which harbour these fusions to enable treatment with selective tyrosine kinase inhibitors such as larotrectinib and entrectinib. NTRKfusions occur in a wide range of tumours including rare tumours such as infantile fibrosarcoma and secretory carcinomas of the salivary gland and breast, as well as at low frequencies in more common tumours including melanoma, colorectal, thyroid and lung carcinomas. Identifying NTRKfusions is a challenging task given the different genetic mechanisms underlying NTRKfusions, their varying frequency across different tumour types, complicated by other factors such as tissue availability, optimal detection methods, accessibility and costs of testing methods. Pathologists play a key role in navigating through these complexities by determining optimal approaches to NTRKtesting which has important therapeutic and prognostic implications. This review provides an overview of tumours harbouring NTRKfusions, the importance of identifying these fusions, available testing methods including advantages and limitations, and generalised and tumour specific approaches to testing.