TEST:

FusionPlex™ Pan-Heme panel

Our NGS testing found tier 1 or 2 variants in the majority of cases, supporting its use in the clinical setting. Additionally, a subset of variants identified with the pan-Heme list likely represents mutations of clonal hematopoiesis of indeterminate potential, which could be removed with a more lymphoma-specific gene list. Given these findings, and a growing number of targets in indolent B cell lymphomas, future studies focusing on evaluation of a lymphoma-specific gene list is of interest for clinical validation and implementation.

The MPN NGS panel demonstrated excellent clinical utility, as 96% (26/27) of significant JAK2/CALR/MPL variants were identified in our cohort. The detection rate of predominately JAK2 variants with rare CALR and MPL variants is in line with the current literature. Based on the findings of patients that underwent the pan-heme panel, potential expansion of coverage regions in JAK2 to include additional exons (such as exon 16) could further improve the detection rate.

"The accurate detection of RUNX1 alterations is essential for unravelling the etiology of blood disorders, and emphasizes the importance of considering such genetic factors in determining disease prognosis."

Post-CAR-T MN is associated with extremely poor prognosis and any potential pathophysiological link withCAR-T therapy is poorly understood. The emergence of post-CAR-T MN in our patient cohort is likely to bemultifactorial. Patients were older and heavily pre-treated, and the majority had HThigh scores, which ispredictive of haematological toxicity, but has not to date been associated with MN (6).

This is a preliminary report of the results of NGS analysis of a group of pediatric patients that will allow riskstratification and will provide recommendations of diverse therapeutical approaches within the concept ofpersonalized medicine. The 198 genes panel is ample and identified mutations present in a cluster of 8 genes in the entire set of cases(46/46). We will correlate the obtained mutational profile with response to treatment and relapse considering eternalfactors as nutritional status and access to medical services and medication.

JAMA. 2023; 329(9):745-755.

"The ability to risk-stratify newly diagnosed AML patients allows earlier initiation of targeted therapies. We found that targeted RNA-sequencing (Archer Fusion Plex) is sensitive and showed 100% concordance in identifying fusions associated with good cytogenetic risk AML. Targeted RNA-sequencing can also identify high risk fusion genes such as NUP98-NSD1 for which FISH fusion probes are not routinely used."

In an independent cohort of 28 patients indicated for FusionPlex testing, gene fusions were detected in 21 patients. The FusionPlex pan-Heme panel analysis reliably detected fusion partners and patient-specific fusion sequences, allowing accurate classification of hematologic neoplasms and the discovery of new fusion partners, contributing to a better understanding of the pathogenesis of the diseases.

The WT1 qPCR assay performs robustly for detection of WT1 expression with excellent intra- and inter-assay reproducibility. WT1 transcripts can be detected down to 10-5 dilutions, offering opportunities for initial baseline expression determination and disease monitoring. Previously established cutoffs of high expression correlate well with high expression by the MSK-Fusion assay, which could be used for cursory screening.

Like described in most reported adult patients with KMT2A::ARHGEF12 fusion, complete remission could not be achieve by Daunorubicine and Cytarabine , neither with Azacytidine and Venetoclax. The patient is at present included in a clinical trial testing a KMT2A inhibitor, the Ziftomenib... We herein report a first case of AML with rare KMT2A::ARHGEF12 fusion transcript with a rare germline DDX41 variant. We highlight both the importance of multiple methods, including RNA high throughput sequencing, to discover rare KMT2A rearrangements as well as systematic research of DDX41 mutation in myeloid neoplasm. Reporting unusual and rare genetic aberrations is important in order to improve knowledge of their prognosis and treatments modalities including new clinical trials.

"Integrated DNA Technologies, Inc....announced it closed on the purchase of Next Generation Sequencing (NGS) research assays from Invitae Corporation (NYSE: NVTA) under the trademarked name Archer. The integration of IDT’s portfolio with the acquired NGS research assays—which have been foundational in researching novel cancer fusions—will empower labs with an all-in-one solution to uncover biomarkers and advance cancer discoveries. The transaction enables IDT to expand its existing operations, build upon the legacy Archer portfolio, and welcome more than 100 new associates globally....Transaction Details-IDT purchased Archer NGS research assays—which reported high double-digit growth since 2019—from Invitae for cash consideration of approximately $48 million, subject to certain adjustments. The transaction is structured as an asset deal and includes a license to intellectual property related to the AMP technology."