Publications by authors named "R Rosenquist"
Article Synopsis
- Chronic lymphocytic leukemia (CLL) varies greatly among patients, with some experiencing slow progression and others facing aggressive forms leading to early death.
- A study with 1,154 CLL patients examined how lifestyle and medical history factors before diagnosis influenced the time until first treatment (TTFT), adjusting for the CLL-International Prognostic Index (CLL-IPI).
- Results indicated that the CLL-IPI score was the main factor affecting TTFT, with minimal influence from lifestyle factors, providing reassurance to patients about the limited impact of these factors on their disease progression.
Article Synopsis
- Massively parallel sequencing enhances our understanding of genes and their links to diseases, especially in cancer patients, but it complicates the process of clinical decision-making due to the need for extensive manual analysis of genetic variants.
- Aiming to improve diagnostics for lymphoma, a proposed solution involves systematic variant filtering and interpretation, utilizing machine learning techniques to assist healthcare professionals in diagnosing.
- The developed blueprint incorporates insights from specialists and identifies essential components like algorithms, software, and bioinformatics, while emphasizing that human evaluators must still verify and validate the classifications made by the AI-driven system.
SF3B1 mutations are recurrent in chronic lymphocytic leukemia (CLL), particularly enriched in clinically aggressive stereotyped subset #2. To investigate their impact, we conducted RNA-sequencing of 18 SF3B1 and 17 SF3B1 subset #2 cases and identified 80 significant alternative splicing events (ASEs). Notable ASEs concerned exon inclusion in the non-canonical BAF (ncBAF) chromatin remodeling complex subunit, BRD9, and splice variants in eight additional ncBAF complex interactors.
View Article and Find Full Text PDFAims And Background: Whole-genome sequencing (WGS) is increasingly applied in clinical practice and expected to replace standard-of-care (SoC) genetic diagnostics in hematological malignancies. This study aims to assess and compare the fully burdened cost ('micro-costing') per patient for Swedish laboratories using WGS and SoC, respectively, in pediatric and adult patients with acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML).
Methods: The resource use and cost details associated with SoC, chromosome banding analysis, fluorescent hybridization, and targeted sequencing analysis, were collected activity-based costing methods from four diagnostic laboratories.