Low Rate of Germline Investigation for Variants of Suspected Germline Origin Detected During the Diagnostic Work-Up of Myeloid Neoplasms.

ABSTRACT:

Background

Genomic profiling of patients with myeloid neoplasms (MN) may detect variants with high variant allele frequency (VAF), indicating potential germline origin. All current guidelines recommend further investigation of such variants.

Objective

To define the proportion of variants with suspected germline origin that prompted germline investigation in patients evaluated for MN in the clinical setting.

Methods

We included 738 patients investigated for MN in Mid-Sweden between May 2020 and January 2023 with available sequencing data in genes of interest (GOI) according to the Nordic and other international guidelines.

Results

In total, 90 patients (12%) carried pathogenic/likely pathogenic (P/LP) variants in GOI according to the Nordic guidelines, with T

SUBMITTER: Al-Djaber A 

PROVIDER: S-EPMC12707176 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature