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Absolute Lymphocyte Count and Outcomes of Multiple Myeloma Patients Treated with Idecabtagene Vicleucel: The US Myeloma Immunotherapy Consortium Real- World Experience.

Idecabtagene vicleucel (ide-cel) has shown impressive efficacy in relapsed/refractory multiple myeloma (RRMM). This study aimed to investigate the impact of absolute lymphocyte count (ALC) on the survival outcomes of RRMM patients treated with standard of care (SOC) ide-cel. Data were collected retrospectively from 11 institutions in the U.S. Impact of ALC parameters including pre-apheresis (pre-A), pre-lymphodepletion (pre-LD), absolute and percent difference from pre-A to pre-LD on clinical outcomes after ide-cel were examined using survival analysis. A new ALC profile was created based on u

MRI-derived radiomics to guide post-operative management of glioblastoma: Implication for personalized radiation treatment volume delineation.

BACKGROUND: The glioblastoma's bad prognosis is primarily due to intra-tumor heterogeneity, demonstrated from several studies that collected molecular biology, cytogenetic data and more recently radiomic features for a better prognostic stratification. The GLIFA project (GLIoblastoma Feature Analysis) is a multicentric project planned to investigate the role of radiomic analysis in GB management, to verify if radiomic features in the tissue around the resection cavity may guide the radiation target volume delineation. MATERIALS AND METHODS: We retrospectively analyze from three centers radiom

Daratumumab as Single Agent in Relapsed/Refractory Myeloma Patients: A Retrospective Real-Life Survey.

BackgroundThe anti-CD38 monoclonal antibody daratumumab is approved as a single agent for the treatment of patients with relapsed/refractory multiple myeloma (RRMM) who received at least three prior lines of therapy, including proteasome inhibitor and immunomodulatory agent. A retrospective multicentric study was designed to evaluate feasibility, tolerability, and efficacy of daratumumab in monotherapy in RRMM.MethodsThis study included 44 consecutive RRMM patients that underwent daratumumab monotherapy after a median number of four prior therapies (range 2-9). Patients were treated in seven S

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… Furthermore, cytogenetic analysis was available in relatively small proportion of patients. Conclusions Our findings indicate that daratumumab as single agent is a safe and well-tolerated regimen in real-life, associated to prolonged PFS and OS in responding patients. …

Body composition and phase angle as prognostic factors in adults with acute lymphoblastic leukemia.

INTRODUCTION: The prognostic role of body composition and phase angle (PhA) in adult patients with acute lymphoblastic leukemia (ALL) remains unclear. This study evaluates the impact of body composition parameters and PhA on overall survival (OS) and disease-free survival (DFS) in ALL patients receiving intensive chemotherapy. METHODS: We conducted a retrospective analysis of 81 adult ALL patients. Baseline body composition was assessed at ALL diagnosis and before therapy using bioelectrical impedance analysis (BIA), including body fat mass (BFM), fat mass index (FMI), fat-free mass (FFM), fa

Outcomes of Patients With Multiple Myeloma With deletion 1p Following Autologous Stem Cell Transplant.

BACKGROUND: Several studies have suggested that a deletion in the short arm of chromosome 1 (del(1p)) is an independent adverse prognostic factor in patients with multiple myeloma (MM). However, its impact on outcomes of patients undergoing autologous hematopoietic cell transplantation (autoHCT) and receiving contemporary anti-myeloma therapy remains unclear. STUDY DESIGN: A retrospective, single-center analysis of newly diagnosed MM (NDMM) patients with del(1p) who underwent upfront autoHCT between 2010 and 2021. The primary endpoints were progression-free survival (PFS) and overall survival

Final analysis of carfilzomib, dexamethasone, and daratumumab vs carfilzomib and dexamethasone in the CANDOR study.

CANDOR (NCT03158688) is a phase 3, randomized, open-label trial comparing carfilzomib, daratumumab, and dexamethasone (KdD) vs carfilzomib and dexamethasone (Kd) in adults with relapsed/refectory multiple myeloma (RRMM) with 1 to 3 prior therapies. The CANDOR study met its primary end point of progression-free survival (PFS) in the primary analysis. Here, we report the final analysis of the study, including secondary end points and subgroup analyses thereof. The median follow-up was 50 months. Patients treated with KdD had higher minimal residual disease-negative (MRD-) achievement rates (28%

Proportion of Chromosomal Disorders and Their Patterns among Births with Congenital Anomalies in Africa: A Systematic Review and Meta-Analyses.

INTRODUCTION: Worldwide, surveys have shown that the frequency of chromosomal disorders among births with congenital anomalies varies greatly from country to country. It is well known that chromosomal disorders are an important cause of premature death or life-long disability; however, the absence of local epidemiological data on their birth prevalence and outcomes impedes policy and service development in many countries and continents. Therefore, the current systematic review and meta-analysis intend to show the pooled proportion of chromosomal disorders among births with congenital anomalies

Clinical application of whole transcriptome sequencing for the classification of patients with acute lymphoblastic leukemia.

BACKGROUND: Considering the clinical and genetic characteristics, acute lymphoblastic leukemia (ALL) is a rather heterogeneous hematological neoplasm for which current standard diagnostics require various analyses encompassing morphology, immunophenotyping, cytogenetics, and molecular analysis of gene fusions and mutations. Hence, it would be desirable to rely on a technique and an analytical workflow that allows the simultaneous analysis and identification of all the genetic alterations in a single approach. Moreover, based on the results with standard methods, a significant amount of patient

Allogeneic hematopoietic cell transplantation for acute myeloid leukemia in first complete remission after 5-azacitidine and venetoclax: a multicenter retrospective study.

The combination of hypomethylating agents and venetoclax has revolutionized the therapeutic landscape of acute myeloid leukemia (AML), especially for patients previously deemed unfit for curative-intent treatment. Some of these patients undergo allogeneic hematopoietic cell transplant (alloHCT); yet, there are scarce data regarding transplantation outcomes. We conducted a multicenter nationwide retrospective cohort study, including patients with AML who underwent alloHCT in CR1 after frontline treatment with azacitidine plus venetoclax only (aza-ven group). We collected a historical control gr

Clinical Characteristics and Outcomes of Caribbean Patients With Adult T-Cell Lymphoma/Leukemia at Two Affiliated New York City Hospitals.

PURPOSE: Adult T-cell lymphoma/leukemia (ATL) is a rare and aggressive peripheral T-cell malignancy caused by human T-cell lymphotropic virus-1 infection, which occurs in areas of high prevalence, predominantly in Japan and the Caribbean basin. Most ATL literature is derived from Japan and little is published about Caribbean patients. We describe the clinicopathologic characteristics and treatment outcomes of our Caribbean patients who have ATL at the State University of New York Downstate Medical Center and Kings County Hospital. PATIENTS AND METHODS: We conducted a retrospective analysis of

Prognostic Factors for Postrelapse Survival after ex Vivo CD34+-Selected (T Cell-Depleted) Allogeneic Hematopoietic Cell Transplantation in Multiple Myeloma.

Allogeneic hematopoietic cell transplantation (alloHCT) for multiple myeloma (MM), with its underlying graft-versus-tumor capacity, is a potentially curative approach for high-risk patients. Relapse is the main cause of treatment failure, but predictors for postrelapse survival are not well characterized. We conducted a retrospective analysis to evaluate predictors for postrelapse overall survival (OS) in 60 MM patients who progressed after myeloablative T cell-depleted alloHCT. The median patient age was 56 years, and 82% had high-risk cytogenetics. Patients received a median of 4 lines of th

Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.

The microphthalmia with linear skin defects (MLS or MIDAS) syndrome is a rare X-linked dominant inherited disorder with male lethality, asso … be an asymptomatic mother and her daughter presenting with the typical features of MLS syndrome. By cytogenetic analysis both females were found to have a terminal Xp deletion with the breakpoint in Xp22.2, mapping near to or within the MSL3L1 gene which is located centromeric to HCCS. FISH analysis revealed that the mother is a mosaic with 45,X(11)/46,X,del(X)(p22.2) …

Clinical and prognostic features of Nigerians with chronic myeloid leukemia.

AIMS AND OBJECTIVES: Chronic myeloid leukemia (CML). PATIENTS AND METHODS: CML patients confirmed at the OAUTHC, Ile-Ife between June 1986 … edian=38.0) years. Philadelphia chromosome was positive in the five patients (12.0%) that underwent cytogenetic analysis. Thirty-three of the patients (78.6%) presented in treatable chronic phase and the other 9 (21.4%) were seen in advanced stages (7 in accelerated & 2 in blastic phase). The median survival of patients that presented in chronic phase was 31.7 months …

Triple colour fluorescent in-situ hybridization for chromosomes X,Y and 1 on spare human embryos.

The potential for implantation of human embryos obtained by in-vitro fertilization is presumably determined to a large extent by their chromosomal constitution but cytogenetic analysis of preimplantation embryos has been hampered by a number of practical and technical problems. With the advent of fluorescent in-situ hybridization (FISH) a practical method for numerical chromosomal analysis has become available. A limited amount of data has been obtained with FISH on human embryos using probes binding to chromosomes X, Y, 16, 18 and 13/21 combined or for chromosomes X and Y or 1 and 17. It was …

Sequencing BCMA-Directed Therapies in Relapsed/Refractory Multiple Myeloma: A Real-World Comparison of CAR T-Cell Therapy and Bispecific Antibodies.

BACKGROUND: Several B-cell maturation antigen (BCMA)-directed therapy (BDT) modalities have been approved by the US Food and Drug Administration (FDA) for relapsed-refractory multiple myeloma (RRMM). Ideal sequencing of these therapies remains unknown. METHODS: We report one of the largest multicenter retrospective patient cohorts in this real-world analysis of patients receiving a BDT in both BDT-naïve and exposed settings at major academic centers. RESULTS: In the BDT-naïve setting, which included 276 patients, 169 (61%) received chimeric antigen receptor T-cell therapy (CAR-T), whereas 10

Pharmacologic and Oncohistone Inhibition of SETD2 Converge on Genomic Instability.

BACKGROUND/OBJECTIVES: SETD2 is a dual-function methyltransferase important for methylation of histone H3 at lysine 36 and α-tubulin in spin … tern analysis, and mitotic defects, specifically micronuclei and chromatin bridges, quantified with cytogenetic analysis. RESULTS: EPZ-719 caused a dose- and time-dependent reduction in SETD2 activity on both histone and tubulin substrates, accompanied by significant increases in chromatin bridges and micronuclei in retinal pigmented epithelial (RPE-1) and 786-O ccRC …

NR2F2/AGAP2 axis: regulating lipid synthesis to drive AML progression via AMPKα/ACC pathway.

PURPOSE: This study aims to investigate the role of AGAP2 in acute myeloid leukemia (AML), particularly its involvement in lipid metabolic reprogramming and AML progression, and to explore the underlying regulatory mechanisms. METHODS: AGAP2 expression was analyzed in CD34⁺ cells from AML patients stratified by cytogenetic risk. Functional assays, including knockdown and overexpression of AGAP2, were performed in KG-1 and HL-60 AML cell lines to assess effects on proliferation, apoptosis, differentiation, and lipid metabolism. mRNA sequencing and KEGG pathway analysis were used to identify rel

A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review.

BACKGROUND: The complex pathogenetic mechanisms of rare genetic diseases make the diagnostic process highly challenging. Advances in molecular genomic techniques, such as exome sequencing, have improved the identification of copy number variants (CNVs), increasing diagnostic yield. METHODS: We report the case of a female patient with global developmental delay, growth alterations, and dysmorphic features. Clinical exome sequencing did not reveal point mutations. CNV analysis from exome data identified a 6 Mb microdeletion in 10p15.3p14, involving the ZMYND11 gene, and a 7.6 Mb microduplicatio

Makorin Ring Finger Protein 1 Inhibits Cell Proliferation in Renal Angiomyolipoma via the ERK/MAPK Signaling Pathway.

INTRODUCTION: Renal angiomyolipomas (AMLs) are clonal tumors formed by the abnormal differentiation of transformed renal progenitor cells. However, the cytogenetic and malignant transformations of renal AMLs require further investigation. Makorin ring finger protein 1 (MKRN1), a transcriptional co-regulator and E3 ubiquitin ligase, may act as a tumor regulator that mediates tumor biological processes. Although it is known as a prognostic marker of renal cell carcinoma, hepatocellular carcinoma, and pancreatic adenocarcinoma, its expression and function in renal AMLs remain unclear. Therefore,

Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa.

BACKGROUND: The 45,X karyotype (X monosomy) is prevalent in females with Turner syndrome. However, in rare cases, it can also manifest in males. It typically results from an unbalanced translocation between the Y chromosome and an autosome, leading to the presence of the short arm of the Y chromosome (Yp) harboring the sex-determining region Y gene (SRY) and the concurrent deletion of the long arm of the Y chromosome (Yq) containing the azoospermia factor (AZF). This study aimed to identify the translocation of the SRY gene using chromosome conformation-based karyotyping (C-MoKa) and validate