Classification and Prognostic Stratification Based on Genomic Features in Myelodysplastic and Myeloproliferative Neoplasm- and Their Overlapping Conditions.

: Myeloid neoplasms encompass a diverse group of disorders. In this study, we aimed to analyze the clinical and genomic data of patients with myeloproliferative neoplasm (MPN), myelodysplastic neoplasm (MDS), and their overlapping conditions, such as MDS/MPN and aplastic anemia (AA), to help redefine the disease classification. : Clinico-genomic data of 1585 patients diagnosed with MPN ( = 715), MDS ( = 698), MDS/MPN ( = 78), and AA ( = 94) were collected.

Machine-learning-based predictive classifier for bone marrow failure syndrome using complete blood count data.

Accurate risk assessment of bone marrow failure syndrome (BMFS) is crucial for early diagnosis and intervention. Interpreting complete blood count (CBC) data is challenging without hematological expertise. To support primary physicians, we developed a predictive model using basic demographics and CBC data collected retrospectively from two major hospitals in South Korea.

Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study.

Background: mutations are associated with poor prognosis in myelodysplastic neoplasm (MDS) and AML. The updated 5th WHO classification and International Consensus Classification (ICC) categorize -mutated MDS and AML as unique entities. We conducted a multicenter study in Korea to investigate the characteristics of -mutated MDS and AML, focusing on diagnostic aspects based on updated classifications.

Analytical Performance Evaluation of a Digital Real-Time PCR for Quantifying Major BCR::ABL1 Transcripts.

Background: Accurate quantification of the BCR::ABL1 transcripts is essential for measurable residual disease (MRD) monitoring in chronic myeloid leukemia (CML) after tyrosine kinase inhibitor (TKI) treatment. This study evaluated the newly developed digital real-time PCR method, Dr. PCR, as an alternative reverse transcription-PCR (qRT-PCR) for MRD detection.

Multi-omics segregate different transcriptomic impacts of anti-IL-17A blockade on type 17 T-cells and regulatory immune cells in psoriasis skin.

Durable psoriasis improvement has been reported in a subset of psoriasis patients after treatment withdrawal of biologics blocking IL-23/Type 17 T-cell (T17) autoimmune axis. However, it is not well understood if systemic blockade of the IL-23/T17 axis promotes immune tolerance in psoriasis skin. The purpose of the study was to find translational evidence that systemic IL-17A blockade promotes regulatory transcriptome modification in human psoriasis skin immune cell subsets.

Prognostic value of European LeukemiaNet 2022 criteria and genomic clusters using machine learning in older adults with acute myeloid leukemia.

This study aimed to validate the new European Leukemia Net (ELN) 2022 criteria for genetic risk stratification in older adults with acute myeloid leukemia (AML) and to determine the most likely set of clusters of similar cytogenetic and mutation properties correlated with survival outcomes in three treatment groups: intensive chemotherapy (IC), hypomethylating agents (HMA) alone, and HMA plus venetoclax (HMA/VEN). The study included 279 patients (aged ≥60 years) who received IC (N=131), HMA (N=76), and HMA/VEN (N=72) between July 2017 and October 2021. No significant differences were observed in survival among the groups according to ELN 2022 risk stratification.

Genomic Profiling of the Overlap Phenotype between Psoriasis and Atopic Dermatitis.

Clinical overlaps between psoriasis and atopic dermatitis (AD) are sometimes undiscernible, and there is no consensus on whether to treat the overlap phenotype as psoriasis or AD. We enrolled 41 patients diagnosed with either psoriasis or AD and clinically re-stratified them into classic psoriasis (n = 11), classic AD (n = 13), and the overlap phenotype between psoriasis and AD (n = 17). We compared the gene expression profiles of lesional and nonlesional skin biopsy tissues and the proteomic profiles of blood samples among the three comparison groups.

Shared decision-making in multiple sclerosis physical symptomatic care: a systematic review.

Background: Multiple sclerosis (MS) is a chronic autoimmune inflammatory, demyelinating, and neurodegenerative disease affecting young adults. People with MS are highly interested in engaging in physical symptom management and decision-making but are often not actively engaged in symptom management discussions. Research examining the benefit of shared decision-making in the management of physical MS symptoms is sparse.

Single-cell transcriptomics suggest distinct upstream drivers of IL-17A/F in hidradenitis versus psoriasis.

Background: On the basis of the mounting evidence that type 17 T (T17) cells and increased IL-17 play a key role in driving hidradenitis suppurativa (HS) lesion development, biologic agents used previously in psoriasis that block signaling of IL-17A and/or IL-17F isoforms have been repurposed to treat HS.

Objective: Our research aimed to characterize the transcriptome of HS T17 cells compared to the transcriptome of psoriasis T17 cells, along with their ligand-receptor interactions with neighborhood immune cell subsets.

Methods: Single-cell data of 12,300 cutaneous immune cells from 8 deroofing surgical HS skin samples including dermal tunnels were compared to single-cell data of psoriasis skin (19,525 cells from 11 samples) and control skin (11,920 cells from 10 samples).

-ITD Measurable Residual Disease Monitoring in Acute Myeloid Leukemia Using Next-Generation Sequencing.

The in-frame internal tandem duplication (ITD) of the FMS-like tyrosine kinase 3 () gene is an important negative prognostic marker in acute myeloid leukemia (AML). -ITD monitoring is essential for patients at relapse or those receiving -targeted therapies. Fragment analysis (FA) is commonly used to detect and quantify -ITDs; however, detecting low-burden -ITDs after a treatment is challenging.

Spectrum of Genetic Mutations in Korean Pediatric Acute Lymphoblastic Leukemia.

The wide application of next-generation sequencing (NGS) technologies has led to the discovery of multiple genetic alterations in pediatric acute lymphoblastic leukemia (ALL). In this work, we aimed to investigate the mutational spectrum in pediatric ALL. We employed a St.

Clinical Features, Gene Alterations, and Outcomes in Prefibrotic and Overt Primary and Secondary Myelofibrotic Patients.

The Philadelphia-negative myeloproliferative neoplasms (MPNs) are divided in three major groups: polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). The 2016 WHO classification incorporates also prefibrotic PMF (pre-PMF) and overt PMF. This study aimed to discriminate the clinical features, genetic alterations, and outcomes in patients with prefibrotic, overt PMF, and secondary MF (SMF).