Validation, Implementation, and Clinical Impact of the Oncomine Myeloid Targeted-Amplicon DNA and RNA Ion Semiconductor Sequencing Assay

Abstract

This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

U2AF1 S34/Q157 Variants Detected in cis Arise Sequentially in an MDS Patient With Serial Sequencing Spanning 18 Years

“…Focusing on a single patient in their cohort, they demonstrated co‐occurrence of the variants in cis with preservation of the wild‐type allele in single‐sequenced cells, and hypothesized these occurred around the same time. We present an additional case of a patient in our previously published cohort 5 found to have U2AF1 S34/Q157 variants also in cis , but sequentially acquired, as demonstrated in serial sample sequencing results spanning 18 years.…”

“…Findings were consistent with MDS with RS and multilineage dysplasia. Targeted next-generation sequencing (NGS) was performed as previously described, 5 and variant analysis using the Oncomine Myeloid Assay (“Oncomine” filter chain; Thermo Fisher Scientific, Waltham, MA) revealed the following variants and allele fractions: U2AF1 S34F (47%); U2AF1 Q157R (33%); and SETBP1 D868N (48%). Supplementary analysis with a custom pipeline (as previously described 5 ) revealed additional variants: ETV6 G375R (43%) and PRPF8 D1598N (55%).…”

Klinische Anwendungsbeispiele einer Next-Generation-Sequencing-basierten Multi-Genpanel-Analyse

“…Die molekulargenetische Analyse bei hämatologischen Erkrankungen inkludiert unter anderem genetische Varianten von Signal-Transduktoren, Transkriptionsfaktoren, Splicing-Faktoren und epigenetischen Regulatoren. Besonderen Stellenwert besitzt die NGS-Diagnostik in der Variantendetektion bei akuter myeloischer Leukämie (AML), myelodysplastischen Syndromen (MDS), myeloproliferativen Neoplasien (MPN) und MDS/MPN-Overlap-Syndromen [33]. Die im Jahr 2022 revidierte Klassifikation der World Health Organisation (WHO) von myeloischen Neoplasien und akuten Leukämien beinhaltet neue genetische Marker mit entscheidendem klinischem, prognostischem und therapeutischem Wert [34].…”

“…Die Zielgene und Kosten eines kommerziell erhältlichen Multi-Genpanels (Oncomine Myeloid Assay GX: ThermoFisher, Waltham, MA, USA) zur Detektion der besonderen und heterogenen molekulargenetischen Landkarte klonaler myeloischer Erkrankungen sind in ▶ Tab. 5 aufgelistet [33].…”

Performance evaluation and clinical impact of the Oncomine Myeloid Research Assay for gene expression analysis in myeloid haematologic malignancies

“…In addition to gene alteration and fusion, OMA provides gene expression data for five genes: BAALC, MECOM, MYC, SMC1A and WT1 . The performance of OMA has been thoroughly validated with respect to gene alteration and fusion 12–15. However, studies on gene expression are limited.…”