ArticleEJHaem2025
Low Rate of Germline Investigation for Variants of Suspected Germline Origin Detected During the Diagnostic Work-Up of Myeloid Neoplasms.
Article in EJHaem, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
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8 authors.
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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 Conclusion: We report a low investigation rate for variants of suspected germline origin detected during the genomic profiling of patients investigated for MN in the clinical setting. Our study underscores the need for further awareness regarding germline investigation for hematological malignancies.
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