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Cytogenetics, fluorescence in situ hybridization, and reverse transcriptase polymerase chain reaction are necessary to clarify the various mechanisms leading to an MLL-AF10 fusion in acute myelocytic leukemia with 10;11 rearrangement.

In acute myelocytic leukemia (AML), predominantly in AML M5a, a recurrent chromosome aberration involves 11q23/MLL and the short arm of chromosome 10. Molecular studies have shown that the AF10 gene at 10p12 is consistently a partner gene in cases with 10;11 rearrangement. A simple reciprocal translocation cannot lead to the known MLL-AF10 fusion transcript because the 3' part of the MLL gene is orientated to the telomere and the 3' part of the AF10 gene to the centromere. In a series of 1897 AML samples, 14 cases (0.74%) showed 10;11 rearrangements leading to a MLL-AF10 fusion transcript. The

USP1 driven mitotic dysregulation and PLK1 stabilization confer Lenvatinib resistance in hepatocellular carcinoma.

BACKGROUND: Lenvatinib is a first-line therapeutic option for advanced hepatocellular carcinoma (HCC), while acquired resistance severely li … xpression induced resistance. Notably, USP1 knockdown led to obvious chromosome misalignment during metaphase in the presence of Lenvatinib. Mechanistically, Polo-like kinase 1 (PLK1) was identified as a critical substrate stabilized by USP1-mediated deubiquitination, essential for maintaining chromosome alignment and facilitating drug resistance. Additiona …

Association between menstrual cycle length and ovarian reserve markers and stimulation response: a retrospective cohort study.

AIM: To evaluate the relationship between menstrual cycle length (MCL) categories and ovarian reserve biomarkers and controlled ovarian stim … , and antral follicle count (AFC) were recorded. COS outcomes including the number of retrieved and metaphase II (MII) oocytes, follicular output index (FOI), and follicle-to-oocyte index (FORT) were documented. Fertilization was achieved via IVF or ICSI, and embryo transfer was performed on days 2–5. RESULTS: AMH levels were significantly lower in the MCL …

Comprehensive Cytogenetic and Genomic Profiling of the Murine AML12 (Alpha Mouse Liver 12) Hepatocyte Cell Line.

The murine Alpha Mouse Liver 12 (AML12) cell line, established over four decades ago, is one of the most commonly used non-transformed hepat … ized as in silico array comparative genomic hybridization (aCGH)-style profiles inferred from these metaphase-based assays, and no independent array- or sequencing-based copy number variation (CNV) experiment was performed in this study. Short tandem repeat (STR) profiling created a unique 16-locus authentication barcode that unambiguously distinguishes AML …

Spindle-to-oocyte light retardance ratio as a noninvasive biomarker for oocyte quality assessment: a prospective cohort study.

BACKGROUND: Polarized light (PL) imaging provides a noninvasive strategy to assess oocyte quality and maturity. This prospective study aims to identify PL parameters in metaphase II (MII) oocytes that serve as adjunctive indicators for usable blastocyst formation. METHODS: From August 2024 to August 2025, we studied 581 mature oocytes from women aged ≤ 38 years undergoing autologous in vitro fertilization cycles at Lee Women's Hospital. Before intracytoplasmic sperm injection, we used PL microscopy to measure birefringence signals in the spindle and zona pellucida (ZP). Fertilized embryos wer…

Isolated Neutropenia as a Sentinel of High-Risk Clonal Evolution: Acute Myeloid Leukemia With Myelodysplasia-Related Changes Harboring TP53 Deletion via Isochromosome 17q and Deletion 20q Mimicking a Myeloproliferative Neoplasm.

Isolated neutropenia is often deemed benign in elderly patients, frequently attributed to age-related marrow changes, medications, or nutrit … rted on azacitidine and venetoclax. Day 28 marrow showed minimal residual disease (blast 8%) but no metaphase growth prompting treatment continuation. She is currently on her fourth cycle with treatment-related transfusion-dependent cytopenias, prompting dose reduction. This case challenges the prevailing "watch-and-wait" paradigm in the evaluation of isola …

Genetic markers and canonical pathways associated with medulloblastoma: a systematic review and meta-analysis.

BACKGROUND: Medulloblastoma is the most common malignant brain tumor of childhood, accounting for 25% of pediatric central nervous system (C … ted with medulloblastoma were cell cycle checkpoints, synaptogenesis signaling and pathway, mitotic metaphase and anaphase, glutaminergic receptor signaling pathway, and mitotic prophase. The top upstream regulators were beta-estradiol, TP53, HTT, TBX3, and TGFB1. Some of the diseases and biological functions predicted as activated with medulloblastoma base …

Impact of follicular size categories on oocyte quality at trigger day undergoing luteal phase stimulation protocol.

PURPOSE: To investigate an optimal strategy by assessing the effectiveness of varying follicular sizes on trigger day during luteal phase stimulation protocol and provide evidence for personalized protocol adjustment. METHODS: This was a retrospective study including a total of 661 patients who had started their in vitro fertilization cycle with a luteal phase stimulation (LPS) protocol during 2015-2023. We classified patients into groups according to the size of the dominant proportion of follicles on the human chorionic gonadotropin (hCG) trigger day: large, medium, and small. The metaphase…

Optimal timing for triggering oocyte maturation during in vitro fertilization cycles varies between gonadotropin-releasing hormone agonist and human chorionic gonadotropin use.

OBJECTIVE: To investigate the optimal timing for triggering oocyte maturation by evaluating the interval from the trigger to oocyte retrieva … subcutaneously). MAIN OUTCOME MEASURES: The primary outcome measure was the total number of mature metaphase II (MII) oocytes retrieved. RESULTS: The GnRHa trigger group had a higher number of MII oocytes retrieved with a longer interval than with a shorter interval (7.2 ± 6.5 vs. 4.3 ± 5.3), whereas the hCG trigger group had fewer oocytes with a longer i …

A Phase II Clinical Study on Apatinib Plus Vinorelbine in Refractory HER2-Negative Breast Cancer and its Metabolic Implications of Drug Resistance.

BACKGROUND: Apatinib, a tyrosine-kinase inhibitor that targets the vascular endothelial growth factor receptor 2, contributes to the inhibition of angiogenesis. Vinorelbine, a semisynthetic vinca alkaloid, primarily inhibits metaphase mitosis of cancer cells through its interactions with tubulin. This study aimed to evaluate whether apatinib combined with vinorelbine was effective and safe for refractory human epidermal growth factor receptor 2 (HER2)-negative breast cancer patients who failed taxanes and/or anthracycline and analyze the possible mechanism of drug resistance through metabolomi…

Effect of myo-inositol supplementation in mixed ovarian response IVF cohort: a systematic review and meta-analysis.

OBJECTIVE: There has been substantial research conducted recently on the effect of myo-inositol (MI) on human reproduction. However, it stil … ed the IVF outcomes of the MI group versus the control group. The synthesis results showed that the metaphase II (MII) oocyte rate was higher in the MI group than in the control group (OR 1.55, 95% CI 1.04-2.31, P=0.03). For polycystic ovary syndrome (PCOS) women, as well as non-obese PCOS women, a statistically significant improvement in MII oocyte rate we …

The Effect of Dual Trigger on In Vitro Fertilization/Intracytoplasmic Sperm Injection Outcomes in Patients with Suboptimal Ovarian Response (POSEIDON Classification Group I): A Randomized Clinical Trial.

BACKGROUND: The study was conducted to investigate the effect of dual trigger with gonadotropin-releasing hormone agonist (GnRH-a) and stand … nces were found between groups in terms of, the total number of retrieved oocytes and the number of metaphase II (MII) oocytes as well as the number of obtained and frozen embryos in the dual trigger group were significantly more than those of in the control group (P=0.001, P=0.022, P=0.01, and P=0.035, respectively). The clinical pregnancy and live birth r …

Parental balanced translocation carriers do not have decreased usable blastulation rates or live birth rates compared with infertile controls.

OBJECTIVE: To determine whether translocation carriers have a reduced number of usable blastocysts compared with infertile controls. DESIGN … asures were sustained implantation rate, fertilization rate, number of oocytes retrieved, number of metaphase II oocytes, total blastulation failure, number of 2-pronuclear embryos, and number of euploid embryos. Outcome measures were compared between male translocation carriers and controls, female translocation carriers and controls, and Robertsonian and …

Whole-exome sequencing and Drosophila modelling reveal mutated genes and pathways contributing to human ovarian failure.

BACKGROUND: Ovarian failure (OF) is a multifactorial, complex disease presented by up to 1% of women under 40 years of age. Despite 90% of p … on of 29 sub-pathways across four signalling pathways (FDR < 0.05). These sub-pathways included the metaphase to anaphase transition during oocyte meiosis, inflammatory processes related to necroptosis, DNA repair mismatch systems and the MAPK signalling cascade. CONCLUSIONS: This study sheds light on the underlying molecular mechanisms of OF, providing no …

Оценка продолжительного протеинового ингибирования с помощью перорального режима на основе ixazomib на недавно диагностированном и впервые возвращенном миеломе: исследование реальных китайских групп.

ЦЕЛЬ: Оценка эффективности, безопасности и удобства перехода в классе (ICT) от инъекционного инъекции на основе бортезомиба к пероральным режимам на основе ixazomib. МЕТОДЫ: Это ретроспективное исследование реального мира было проведено в 16 Китайские больницы в период с октября 2017 и апрель 2023 и проанализировали вновь диагностированные (NDMM) и перинатальные рецидивы нескольких пациентов миэломы (FRMM), которые получили по крайней мере частичный ответ от вводного индукционного лечения на основе бортезомиба, за которым последовал оральный режим на основе ixazomib 2 год или до развития болез

Совпадение в аннотации оригинала
OBJECTIVE: To evaluate the effectiveness, safety, and convenience of in-class transition (iCT) from intravenous bortezomib-based induction t … ld, male 55.4%, 53% as high risk (HR), and 47% as standard risk. Cytogenetic risk stratification by metaphase fluorescence in situ hybridization (M-FISH), based on the Mayo Clinic risk stratification system. The median duration of total PI therapy was 11 months, with ixazomib-based treatment spanning 6 months. At the 20-month median follow-up, 53% of patien …

Erythroid variant evolving from chronic myeloid leukemia resistant to multiple tyrosine kinase inhibitors: a rare case report.

BACKGROUND: Chronic myeloid leukemia (CML) is characterized by the presence of BCR::ABL1 fusion gene resulting from a reciprocal translocati … out dysplasia or excess blasts. Chromosomal analysis identified t(9;22) (q34;q11.2) in 19 out of 20 metaphase cells. BCR::ABL1 fusion transcript (p210 isoform) was confirmed by real-time quantitative polymerase chain reaction (RT-qPCR) and next-generation sequencing (NGS). Notably, no additional pathogenic cytogenetic abnormalities or ABL1 kinase domain mut …

High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach.

Topoisomerase II homologue 2 (PATL2) has been confirmed to be a key gene that contributes to oocyte maturation. However, the allele distribu … 2% and 14.72% of the oocytes with PATL2 mutations were arrested at the germinal vesicle (GV) stage, metaphase I (MI) stage and first polar body stage, respectively. Oocytes that could develop to the first polar body stage were extremely rare to fertilise, and their ultimate fate was early embryonic arrest. Phenotypic variability is related to the function o …

Follicular activation in women previously diagnosed with poor ovarian response: a randomized, controlled trial.

OBJECTIVE: To investigate whether ovarian fragmentation for follicular activation (OFFA) improves ovarian reserve markers and in vitro ferti … doubled or at the end of follow-up. MAIN OUTCOME MEASURE(S): The primary outcome was the number of metaphase II (MII) oocytes obtained. Antral follicle count, antimüllerian hormone level, and reproductive outcomes were recorded as secondary outcomes. Exploratory outcomes included surgical results and analysis of protein and gene expression. RESULT(S): Ova …

Antinuclear antibodies in follicular fluid may be a risk factor in vitro fertilization and embryo transfer.

OBJECTIVE: To explore the effect of anti-nuclear antibodies (ANAs) on the outcome of in vitro fertilization-embryo transplantation (IVF-ET) and to study the effect of ANAs in follicular fluid (FF) on embryonic development. METHODS: The expression of ANAs in FF of patients treated with IVF-ET and healthy group. The patients were divided into ANAs-positive group and ANA-negative group. The age, duration of infertility, body mass index (BMI), basic follicle stimulating hormone (bFSH), anti-Mullerian hormone (AMH), number of retrieved oocytes, portion of metaphase II oocytes (MII), number of embr…

The relationship between thyroid autoimmunity and poor response to ovarian stimulation in in vitro fertilization women with infertility.

INTRODUCTION: Thyroid autoimmunity (TAI) is the most common autoimmune disorder. Patients with TAI are usually euthyroid, and the presence o … d 2700 IU, respectively, and the difference was statistically significant (p < 0.05). The number of metaphase 2 oocytes was significantly lower in the anti-TPO-positive group (p < 0.05). Embryo transfer number and embryo grade were significantly lower in the anti-TPO-positive group (p < 0.01). Poor ovarian response was significantly higher in anti-TPO-posit …