Cytogenetics - Science topic

Background The genus Chrysanthemum (Asteraceae) consists of a series of polyploids, ranging from diploid (2x) to decaploid (10x), with a basic chromosome number of x = 9. They vary widely within and among species owing to natural hybridization and polyploidization in natural habitats, and this has made recognizing the taxonomic boundaries among the...

Bispecific T‐cell engagers (BTCEs) represent a paradigm shift in the treatment of relapsed/refractory multiple myeloma (RRMM). Talquetamab, a GPRC5DxCD3 BTCE, has shown promising results in the MonumenTAL‐1 trial and was recently approved by the Food and Drug Administration and the European Medicines Agency. However, treatment under real‐world cond...

T-cell Acute Lymphoblastic Leukaemia (T-ALL) is a high-risk hematological disease constituting ~20% of acute leukemias. To date, the only subtype recognized by the World Health Organization’s International Consensus Classification is early T-cell precursor ALL. To improve clinical outcomes, several studies have investigated and defined T-ALL genomi...

Core-binding factor acute myeloid leukemia (CBF-AML) is a subtype of AML characterized by specific genetic rearrangements, including t(8;21) and inv(16), which are associated with a relatively favorable prognosis with relapse rates around 30%. The mutational profiling of CBF-AML is highly heterogeneous in pediatrics, with mutations in the tyrosine...

Autologous hematopoietic stem cell transplantation (ASCT) is a recommended treatment for multiple myeloma (MM). Currently, with multiple treatment alternatives, patients' prognosis has improved significantly compared to the pre-proteasome inhibitor period. However, this has raised deliberations on the value and timing of ASCT. Compared with Western...

Background: High MECOM expression (MECOM+) in acute myeloid leukemia (AML) represents a rare, aggressive subtype with poor prognosis. This study assesses clinical outcomes in MECOM+ AML patients received with venetoclax-based therapies. Methods: Among 230 non-M3 AML cases between August 2018 and December 2024, 14 (6.1%) harbored MECOM overexpressio...

To explore the value of cytogenetic risk stratification combined with minimal residual disease (MRD) status in predicting the therapeutic efficacy and prognosis for multiple myeloma (MM). From January 2017 to December 2023, 73 cases of newly diagnosed MM were recruited. Cytogenetic risks were stratified according to the results of fluorescence in s...

CREBBP, CEBPA, and DNMT3A are tumor suppressor genes whose dysfunction has been reported in hematologic malignancies. Acute myeloid leukemia (AML) is the most common type of acute leukemia in adults. We aim to assess the expression level of CREBBP, CEBPA, and DNMT3A genes in an Egyptian cohort with AML. We investigated the correlation between the s...

Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults in Europe and North America. In recent years, significant progress has been made in the scope of available treatment methods thanks to the widespread use of molecularly targeted drugs. Selection of the optimal method of treatment requires assessment of the patient in terms of...

Infections are an important cause of morbidity and mortality in patients with lower-risk myelodysplastic syndromes (LR-MDS). Studies regarding risk factors for infections are, however, limited in this population. This study aimed to investigate the prevalence and risk factors for infections and infection-related death in patients with LR-MDS. This...

Abnormalities in X chromosomes, either numerical or structural, cause X-linked disorders, such as Duchenne muscular dystrophy (DMD). Recent molecular and cytogenetic techniques can help identify DMD gene mutations. The accurate diagnosis of Duchenne is crucial, directly impacting patient treatment management, genetics, and the establishment of effe...

Over the past few years, a revolution has occurred in cytogenetics, driven by the emergence and spread of methods for obtaining high-quality chromosome-level genome assemblies. In fact, this has led to a new tool for studying chromosomes and chromosomal rearrangements, and this tool is thousands of times more powerful than light microscopy. This to...

The Neotropical electric fishes of the order Gymnotiformes, known for their unique electrogenic and electrosensory systems, provide exceptional models for investigating ecological and evolutionary questions. While their phylogenetic and cytogenetic diversity is well documented, information about the diversity and evolution of repetitive DNA in gymn...

The MECOM (MDS1 and EVI1 complex locus) gene, located at 3q26.2, encodes an oncogenic transcription factor implicated in multiple signaling pathways. Rearrangements involving MECOM/3q26.2, including inversions, translocations, insertions and cryptic chromosomal changes, are observed in myeloid neoplasms and are associated with high-risk disease fea...

Background Acute myelocytic leukemia (AML) is a common hematological malignancy in adults. Although several risk stratifications based on cytogenetic and molecular abnormalities are available to guide the indications for allogeneic hematopoietic cell transplantation (allo-HCT), determining optimal treatment strategies for AML remains challenging. I...

The etiology of acute myeloid leukemia (AML) is complex, including genetic and environmental abnormalities. The immune system anomalies play an essential role in the process of leukemogenesis. However, the immunopathological factors, including abnormal T helper (Th) subsets, contributing to the initiation and progression of this neoplasm, require f...

Philadelphia-chromosome negative (Ph-neg) myeloproliferative neoplasms (MPNs) are hematopoietic stem disorders with a risk of progression to the accelerated-phase (AP) or blast-phase (BP) that is influenced by clinical, pathologic, cytogenetic, and molecular variables. Overall survival is limited in MPN-AP/BP with current treatment approaches, part...

In recent years, there has been an increased interest in aboriginal Kazakh dog breeds such as Tobet and Tazy. For their preservation and successful breeding, a thorough analysis of the nature of their hereditary traits and genome instability at different levels of biological organization is necessary. In particular, many aspects of the dog cytogene...

Background Haematological malignancies (HMs) are primary cancers of the blood and blood-forming organs. They are heterogeneous and of diverse clinical features, treatment protocols and prognoses. They constitute a significant source of cancer-related morbidity and mortality. Northeastern Nigeria, being the region in the country with the worst liter...

There are scarce data in the literature focusing on newly diagnosed multiple myeloma (NDMM) patients who undergo autologous haematopoietic cell transplantation (autoHCT) after achieving suboptimal response to induction. To address this, we performed a retrospective, single‐centre analysis of patients with NDMM who underwent upfront autoHCT between...

Miyelodisplastik sendromlar (MDS), sessiz hastalık seyirlerinden akut miyeloid lösemiye kadar değişen, heterojen, klonal hematopoietik hastalıklardır. Dünya Sağlık Örgütü'ne göre MDS, sitopeni, kemik ili-ği displazisi ve belirli karyotipik anormallikler ile tanımlanır. Genel popülasyonda MDS insidansı yılda 100.000 kişide 4,5'tir. Başvuru nedenleri...

Chromosome instability adversely affects animal fertility and reproduction. Analysis of instability can be a valuable diagnostic tool. Helpful tests for assessment of instabilities include the sister chromatid exchange assay, identification of fragile sites, the bleomycin assay and the comet assay. These techniques can be used to assess and compare...

Acute myeloid leukemia (AML) is characterized by the accumulation of cytogenetic and molecular abnormalities. Isocitrate dehydrogenase 1 and 2 ( IDH1/2 ) mutations occur in 11% to 20% of adults with AML. The outcome of IDH1/2 -mutated AML is heterogeneous and affected by co-mutational patterns. We retrospectively analyzed 118 patients with IDH1/2 -...

The main objective of the current study was to provide a detailed account on the prognostic relevance of abnormal karyotype (AK) and associated specific cytogenetic abnormalities in polycythemia vera (PV). 669 PV patients were informative, of which 436 (65%) were evaluated within 1 year of diagnosis. Karyotype was abnormal in 67 (15%) patients, inc...

Objectives Plasmablastic myeloma (PBM) is a variant of multiple myeloma associated with a poor prognosis. We investigated the efficacy and safety of B-cell maturation antigen (BCMA) chimeric antigen receptor T cell (CAR-T) therapy in patients with PBM. Methods The study comprised six patients diagnosed with PBM between January 1, 2023 and December...

Multiple myeloma is a clonal plasma cell malignancy often characterized by complex cytogenetic abnormalities that influence prognosis and treatment strategies. This report describes a 63-year-old male with kappa light chain multiple myeloma and a rare finding of double translocation involving t(11;14) and t(14;16), detected by FISH analysis. This c...

We demonstrate that carcinogenesis and multi-therapy resistance in multiple myeloma (MM)—a treatable yet incurable plasma cell malignancy—are driven by epigenetic dysregulation. In this new paradigm, genomic and cytogenetic events unlock epigenetic plasticity, reshaping MM cell biology to evade tumor microenvironment constraints and therapeutic pre...

The Alpinia species (A. intermedia, A. zerumbet, A. formosana, A. uraiensis, and unidentified strains native to the Daito Islands), which are native to the Nansei Islands, Japan are ornamental plants that can be used as resources to produce seasonings and antibacterial and antiviral substances. Despite the usefulness of these plants, little scienti...

Background Karyotype and genome size are critical genetic characteristics with significant value for cytogenetics, taxonomy, phylogenetics, evolution, and molecular biology. The Lycosidae family, known for its diverse spiders with varying ecological habits and behavioral traits, has seen limited exploration of its karyotype and genome size. Method...

Background Acute myeloid leukemia (AML) is a blood malignancy that develops in the bone marrow due to uncontrolled cell proliferation and undifferentiating blood cells. This fast-progressing cancer has a higher percentage of relapses due to clonal evolution and the re-emergence of resistant clones. Identification of relapse associated genetic eleme...

Multiple myeloma (MM) is a malignant hematological disease originating from plasma cells that remains incurable. Autologous stem cell transplantation (ASCT) is an important treatment method for MM. With the development of new drugs, the treatment of MM patients who meet the ASCT criteria has significantly improved, and the median survival time has...

Genetic testing is an integral part of Neonatal Intensive Care Unit (NICU) care. There are reported disparities in both NICU care and genetic testing related to race and language spoken. Identifying characteristics associated with genetic testing in NICUs could help detect patients who may benefit from genetic testing, as well as any current dispar...

Extramedullary multiple myeloma (EMM), defined in this review as soft tissue plasmacytomas resulting from hematogenous spread, is characterized by the ability of MM cells to proliferate outside of the bone marrow microenvironment. It is aggressive, often associated with high-risk cytogenetics and early relapse, and independently portends significan...

Herbicide-resistant weeds are a major threat to contemporary agriculture, especially in systems that produce maize. This paper offers a thorough analysis of the management approaches, historical viewpoints, case studies, and genetic factors pertaining to herbicide resistance in maize. We draw attention to the complexity of the problem and the press...

Relapsed/refractory multiple myeloma (RRMM) research on the impact of +1q abnormalities in real‐world settings is limited. This study evaluated the prognostic and predictive significance of 1q gain [gain(1q)] and amplification [ampl(1q)] in 635 RRMM patients treated with daratumumab‐, elotuzumab‐, and carfilzomib‐based triplet regimens. Patients wi...

Objectives Mixed phenotype acute leukemia (MPAL) often poses challenges in diagnosis and clinical management. This is the first study to assess the lineage/immunophenotype‐genotype association and the significance of AML‐myelodysplasia‐related changes (MR, cytogenetic abnormalities and gene mutations, AML‐MR‐CG‐Gene) in MPAL classification. Method...

Background FMS‐like tyrosine kinase 3 (FLT3) mutations, either internal tandem duplications (FLT3‐ITD) or tyrosine kinase domain (FLT3‐TKD), are common in acute myeloid leukemia (AML). FLT3‐ITD confers an adverse prognosis. Methods The authors performed a retrospective study including 619 patients to evaluate outcomes in newly diagnosed FLT3‐mutat...

Objective Chronic myeloid leukemia (CML) is a malignancy driven by the BCR::ABL1fusion gene, with the e19a2 transcript being a rare variant, accounting for 0.4% of CML cases. Patients with the e19a2 transcript often show poor response to first-line treatment with imatinib, and no standard therapy has been established for this subtype. Methods We r...

The persistence of high relapse rates and therapy resistance continues to challenge the effective management of multiple myeloma (MM). The identification of novel MM-specific molecular markers could ameliorate risk-stratification tools and accurately identify high-risk patients towards personalized prognosis and therapy. miRNA-seq analysis of CD138...

Central nervous system (CNS) relapse in patients with acute myeloid leukemia (AML) is rare, and prophylactic intrathecal chemotherapy is not routinely recommended due to a lack of clinical evidence. Nevertheless, CNS relapse can lead to significant neurological complications and a poor prognosis. Therefore, we aimed to evaluate the effectiveness of...

Gymnotus inaequilabiatus has been the subject of few studies concerning the organization of its macro- and micro-karyotypic structures. This article aims to enhance the existing cytogenetic data for G. inaequilabiatus from the upper Paraná River basin by documenting its karyotype and other chromosomal characteristics, including ribosomal DNA (rDNA)...

Background: Methods such as cytogenetics and immunocytology/immunohistology provide essential diagnostic insights but may be limited in ambiguous cases of mature B-cell lymphoma. Next-generation sequencing (NGS) has emerged as a potential tool to improve diagnostics. Methods: We validated the analytical performance of a lymphoid customized NGS pane...

Clinical management of acute myeloid leukemia (AML) poses significant challenges due to its poor prognosis and heterogeneous nature. Discovering new biomarkers is crucial for improving risk assessment and customizing treatment approaches. While leukocyte-specific transcript 1 (LST1) is implicated in inflammation and immune regulation, its function...

Varanids are known for conserved sex chromosomes, but there are differences in the size of the W chromosome but not in morphology among species representing varying stages of sex chromosome evolution. We tested for homology of the ZW sex chromosome system with size differences in varanids among four species from two lineages in Australia, the Odatr...

The detection of structural variants (SVs) represents a critical component in the diagnostic evaluation and treatment of many hematologic malignancies. Although clinical SV testing mainly consists of traditional cytogenetic methodologies, technological innovations have led to alternative approaches with improved resolution. In this study, we sought...

While initial trials led to the accelerated approval of belantamab mafodotin, a BCMA-directed antibody-drug conjugate, confirmatory trials failed to establish benefit from this therapy for patients with relapsed refractory multiple myeloma (RRMM), eventually leading to its withdrawal from commercial use. With an imminent approval as an effective co...

Patients (pts) with myelodysplasia‐related AML (MR‐AML) are now genetically recategorized, with three different groups in the International Consensus Classification: AML with mutated TP53 (TP53‐AML), with myelodysplasia‐related gene mutations (MR‐GM AML), and with myelodysplasia‐related cytogenetic abnormalities (MR‐CG AML). Moreover, TP53‐AML is d...

Propolis has been well known for centuries as a natural preventive and therapeutic agent. Its numerous health benefits are mainly attributed to its high content of phenolic compounds that have a remarkable antioxidant activity. Since phenolics may exert a dual nature (pro-oxidant and antioxidant) the aim of this study was to investigate the safety...

Background/Objectives: Minimal residual disease (MRD) refers to the resistant clonal population of leukemia cells that survive induction chemotherapy, serving as a critical indicator of treatment response in pediatric Acute Lymphoid Leukemia (ALL). While flow cytometry (FCM) and molecular methods are standard for MRD detection, novel leukemia-assoc...

Amitraz is a formamidine-based insecticide and acaricide used in veterinary applications. Despite the use of various genetic assessment criteria and testing systems to investigate amitraz poisoning, studies have yielded diverse and inconclusive results. This study aimed to analyze the genotoxic potential of the insecticide amitraz and compare the e...

Hypereosinophilic syndrome (HES) was first described in 1968 by Hardy and Anderson. It is a group of rare, multisystemic and heterogeneous pathologies, characterized by significant morbidity and mortality. The occurrence of clonal hypereosinophilic syndrome associated with FIP 1L1-PDGFRA+ is estimated to range between 0.31 and 6.3 cases per million...

Background Although there is evolving consensus to re-evaluate cytogenetic features during follow-up in multiple myeloma (MM), longitudinal studies on cytogenetic evolution in Chinese MM patients are still lacking. Our aim was to highlight the importance of ongoing monitoring of cytogenetic characteristics and shed light on the implications of clon...

Supernumerary (B) chromosomes are widespread in numerous plants, including the Lilium genus. However, their origin remains unclear. This study used traditional and modern cytogenetics to analyze the triploid lily cultivar ‘Eyeliner’ (LAA) to identify the microsporogenesis, fertility, and chromosome composition of its progeny and record a case of po...

In this study, a new one-parameter count distribution is introduced by compounding Poisson and Xrama distributions. The Poisson Xrama (PXr) distribution is a tractable addition to probabilistic modeling, merging the robustness of the Poisson distribution with the flexibility of the Xrama distribution, offering a versatile framework for analyzing co...

Fibroma of tendon sheath (FTS) is a benign fibroblastic/myofibroblastic neoplasm that primarily occurs in the fingers and hands of young and middle-aged adults. The lesion typically presents as a small, firm, slow-growing, painless nodule. Ultrasonography usually shows a focal nodular mass with homogeneous hypoechogenicity. Magnetic resonance imagi...

The association of JAK2 (Janus kinase-2) V617F mutation in myeloproliferative neoplasms has long been established. We report a case of a 48 years old male a known case of JAK 2 positive polycythemia vera presenting with anaemia who was incidentally detected to have carcinoma of distal stomach. His cytogenetic study revealed 3p deletion which is sai...

Acute myeloid leukemia (AML) treatment relied on anthracyclines and cytarabine based intensive chemotherapy. However, clinical outcomes are unsatisfied for patients with intermediate/adverse cytogenetics based on European Leukemia Net (ELN) risk stratification 2022 (ELN 2022), and relapses also remain common even in patients with favorable-risk cyt...

Identifying clades with extensive and conspicuous changes in diploid chromosome number (2n) is an important step in unraveling the evolutionary mechanisms underlying karyotype evolution. Here, we report low 2n in a monophyletic group of teleost fishes within the family Osphronemidae defined by their unique spiral egg structure (the “spiral egg” cla...

Introduction Acute myeloid leukemia (AML) is a leading cause of mortality among Indian children and adults, driven by diverse genetic and epigenetic abnormalities. Limited access to genomic sequencing in India due to resource constraints has hindered a comprehensive understanding of prognostic factors specific to this population. Objectives This st...

Reciprocal translocation t(15;17)(q22;q21) is a hall mark of Acute Promyelocytic Leukemia (APL). Approx. 23–43 % of cases show additional chromosomal abnormalities. Here we report a case of a 33-year-old woman with APL with the typical t(15;17) translocation, and with a secondary changes deletion 7q as an additional abnormality. Our patient present...

Objective: This study aims to assess the impact of prolonged occupational exposure to chrysotile asbestos on the epithelial cells of the upper respiratory tract and the levels of surfactant protein D (SP-D) in female workers. Methods: Buccal epithelial cell samples were collected from 40 workers at JSC “Kostanay Minerals”, fixed using the May–Grünw...

The Physalaemus cuvieri–Physalaemus ephippifer species complex is a Neotropical frog group that encompasses seven well-supported major clades. Although very similar morphologically, the five lineages previously karyotyped show notorious cytogenetic signatures. There is also evidence of ancient secondary contact between P. ephippifer, which has hete...

Oral-drug based regimens are useful in certain circumstances for transplant-ineligible newly diagnosed multiple myeloma (TI-NDMM), but few studies have compared Ixazomib based regimen with lenalidomide based regimen head-to-head. We carried out a prospective randomized, open, parallel group trial in patients with TI-NDMM in 3 China centers from Mar...

Objective Melphalan flufenamide (melflufen) plus dexamethasone is fully approved in Europe for patients with relapsed/refractory multiple myeloma (RRMM) with ≥ 3 prior lines of therapy. We analyzed the efficacy and safety of melflufen in the real‐world setting. Methods In this retrospective analysis, we examined baseline features, efficacy, and sa...

Acute Erythroid Leukemia (AML M6) is a rare form of acute leukemia. Aims and Objectives: To retrospectively evaluate 5 cases of acute erythroid leukemia reported in the department of Pathology, Kasturba Medical College and Hospital, Manipal and analyze their clinico-hematological features with the available literature. Materials and Methods: Case r...

Background: Literature shows that most of the information on the toxicity of gluten is generated from survey and observational studies, resulting in inconsistent outcomes and a decrease in the acceptability of gluten-rich foods. To determine gluten's safety, an in-depth in vitro and in vivo toxicological examination is required. This enables scient...

Objective: The goal was to estimate the contribution of chromosome anomalies in the Iraqi infertile males. Methods: Sixty-four male patients were included in the present study. Blood culture and chromosomal harvesting were conducted according to standard methods. Results: The percentage of normal karyotype was 87.5%. The number of abnormal karyotyp...

Risk stratification models based on cytogenetics and disease burden help identify high-risk patients with newly diagnosed multiple myeloma (NDMM). However, some high-risk patients remain undetected. This study evaluated the prognostic utility of the proportion of clonal plasma cells in the S-phase of the cell cycle for NDMM. Patients with active mu...

Immunogenic cell death (ICD) is the kind of cell death that triggers the immune system. It affects several tumors, whereas its significance for prognosis in acute myeloid leukemia (AML) remains uncertain. AML categorization by cytogenetic variables is inaccurate. In addition, risk stratification of AML based on cytogenetics is imprecise. The data o...

Blood eosinophilia remains a common finding in the general population, whereas hypereosinophilia (HE) is extremely rare. Different non‐hematologic and hematologic disorders may be accompanied by blood eosinophilia. Clinical manifestations of eosinophilia‐related disorders range from mild to life‐threatening. Given the various symptoms, a comprehens...

Background/Objective: The prognostic impact of additional cytogenetic aberrations and molecular abnormalities (such as MDS-related mutations, mutations in myeloid genes and the KRAS/NRAS mutations) in patients with NPM1- and/or FLT3-ITD-mutated AML remains elusive. Methods: This retrospective, multicentre study of real-world data aimed to investiga...

The article provides evidence based on published materials from the scientific heritage of Academician N.I. Vavilov, depicting the circumstances of the birth of plant cytogenetics, but which have remained until now without due attention of historians of science.

Fetal hydrops is defined as the presence of abnormal fluid collections in two or more intra-fetal compartments. It has been classified based on etiology (immune vs. non-immune), on the presence or absence of other findings (isolated vs. non-isolated) and on the gestational age at presentation (first-, second- or third-trimester). In all cases of no...

The Amblyoponinae genus Fulakora comprises 25 Neotropical, Nearctic and Australasian species. To date, only one species of Fulakora, F. cleae, has been cytogenetically studied, with 2n=18 chromosomes, and no information is available on the immature stages of the genus. In this study, we describe two additional karyotypes for Fulakora (F. elongata a...

Multiple myeloma (MM) is a haematological malignancy characterised by high genomic heterogeneity. One of the most common cytogenic abnormalities in MM is the gain of genetic material at the long arm (q) of chromosome 1 (+ 1q). While many mechanisms of resistance have been associated with + 1q alterations (e.g. CD38 downregulation, impairment of com...

Disease Overview Acute myeloid leukemia (AML) is a bone marrow stem cell cancer that is often fatal despite available treatments. Diagnosis, risk assessment, monitoring, and therapeutic management of AML have changed dramatically in the last decade due to increased pathophysiologic understanding, improved assessment technology, and the addition of...

We retrospectively analyzed the impact of conditioning intensity on transplant outcomes according to their cytogenetic/molecular risk in a cohort of 1823 patients with acute myeloid leukemia (AML) and intermediate- or adverse-risk cytogenetics in first complete remission (CR1). These patients received their first hematopoietic stem cell transplanta...

Disagreements in molecular and morphological analyzes have generated conflicts about the correct allocation of Hemiancistrus fuliginosus in Hypostominae. In this study, cytogenetics analyzes in four populations of H. fuliginosus from tributaries of the Uruguai Riverrevealed 2n = 56 chromosomes (30m + 18sm + 6st + 2a) for all populations. Nucleolar...

Ontogeny of acute myeloid leukemia (AML) provides prognostic information, however closer interrogation with respect to AML characteristics, genomics, and various treatments are warranted. We defined untreated clinical secondary (CS) AML as AML with a diagnosis of antecedent myelodysplastic syndrome (MDS) or MDS/myeloproliferative neoplasm (MDS‐MPN)...

The combined use of sunitinib and other tyrosine kinase inhibitors (TKIs) is discouraged because of the increased risk of adverse events (AEs). Furthermore, plasma sunitinib levels are affected by drugs that affect CYP3A4 activity; therefore, caution should be exercised when using CYP3A4 inhibitors. In the present study, a 59-year-old Japanese man...

Background t(11;14) is considered a standard risk factor in multiple myeloma (MM). However, recent studies suggested that its impact in the context of novel agents remained controversial. Methods This retrospective analysis examined the clinical profiles of 375 newly diagnosed patients with MM and compared the outcomes between those with t(11;14)...