Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms.

ABSTRACT:

Purpose

Mosaicism is a feature of several inherited tumor syndromes. Only a few cases of mosaicism have been described in multiple endocrine neoplasia type 1 (MEN1). Next-generation sequencing (NGS) offers new possibilities for detecting mosaicism. Here, we report the first study to systematically look for MEN1 mosaicism, using blood DNA, in MEN1-suspected patients but without MEN1 pathogenic variants (PV) in a heterozygous state.

Methods

Digital targeted NGS, including unique molecular identifiers (UMIs), was performed in routine practice, and the analytic performance of this method was verified.

Results

Among a cohort of 119 patients harboring from 2 to 5 MEN1 lesions, we identified 3 patients with MEN1 mosaic PVs. The allele frequencies ranged from 2.3 to 9.5%. The

SUBMITTER: Lagarde A 

PROVIDER: S-EPMC9578105 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature