Background: Myelodysplastic syndromes (MDSs) and acute myeloid leukemia (AML) are clonal hematological disorders that share molecular origins but present with distinct clinical features. MicroRNAs (miRNAs) are key post-transcriptional regulators, and their altered expression may reflect biological shifts contributing to disease progression. Methods: Expression levels of miR-155, miR-181, miR-221, miR-222, and miR-223 were analyzed by RT-qPCR in bone marrow samples from 37 MDS patients, 20 AML patients, and 7 controls. Group comparisons were performed using ANOVA (with Benjamini–Hochberg correction) and Tukey post hoc testing. Diagnostic performance and network behavior were evaluated using ROC analysis, Pearson correlation matrices, and principal component analysis (PCA). Results: miR-155, miR-181, and miR-223 were upregulated in AML, whereas miR-221 and miR-222 were downregulated. miR-222 showed the highest diagnostic accuracy (AUC ~0.87 for both AML vs. control and MDS vs. control). Its expression was significantly higher in high IPSS-R MDS cases (p = 0.046), with a similar upward tendency for miR-221 (p = 0.054). Progressive loss of coordinated miRNA expression was observed from controls to MDS and AML. PCA supported these findings by showing separation mainly driven by miR-222 and miR-155. Conclusions: Combined miRNA profiling highlights miR-222 and, to a lesser extent miR-155, as consistent indicators of myeloid disease transformation. While further validation in larger and genetically stratified cohorts is warranted, these findings support the potential contribution of miRNA signatures to diagnostic evaluation and risk stratification in MDS and AML, in line with precision hematology approaches.

Background: Circadian clock disruption has emerged as a relevant axis in cancer; however, the expression patterns and diagnostic relevance of BMAL1 and CLOCK in multiple myeloma (MM) remain insufficiently defined. Methods: BMAL1 and CLOCK mRNA expression was quantified by RT‐qPCR in bone marrow samples from 46 newly diagnosed MM patients and 13 healthy controls. Group comparisons, ROC analyses, multivariate logistic regression, partial correlation, and machine‐learning models (logistic regression, random forest, and support‐vector machine) with stratified 5‐fold cross‐validation (including class‐weighted sensitivity analysis) were performed. Results: BMAL1 expression was significantly higher in MM than in controls (1.12 ± 0.33 vs. 0.85 ± 0.33, p = 0.016; Cohen's d = 0.83), whereas CLOCK showed no significant univariate difference ( p > 0.2). BMAL1 demonstrated moderate diagnostic performance (AUC = 0.729), while CLOCK alone showed limited discrimination (AUC = 0.617). Combined analysis modestly improved performance (AUC = 0.756). In multivariate logistic regression, BMAL1 remained a strong independent predictor of MM (OR = 3343.4, p = 0.0046), whereas CLOCK showed an inverse adjusted association (OR = 0.0037, p = 0.019). BMAL1 and CLOCK expression were strongly correlated in MM ( ρ ≈ 0.80), persisting after adjustment for age, ISS stage, and β2‐microglobulin (partial r = 0.847, p = 2.2 × 10–13). Among classifiers, the random forest achieved the best performance (AUC = 0.832; AUPRC = 0.952). Specificity was limited across classifiers, indicating that these performance estimates are exploratory and require validation in larger cohorts. Conclusion: MM is characterized by BMAL1 upregulation within a preserved but imbalanced BMAL1/CLOCK axis rather than uniform shifts across circadian genes. Although diagnostic performance is moderate, consistent signals across statistical and machine‐learning approaches support an MM‐associated circadian expression pattern warranting further validation.

The microRNA (miR)-29 family has been deregulated in several types of hematologic malignancies. However, role of this family and their target genes DNMT3A (DNA methyltransferase 3A) and TET2 (Ten-Eleven Translocation 2) remains unclear. Here, we have made an attempt to determine the relative expression levels of three miRNAs and target genes in patients with newly diagnosed Multiple myeloma (MM) using quantitative real-time PCR. Moreover, the expression levels of selected miRNAs and genes and their correlations with clinical parameters were compared and analyzed. The ROC curve was used to analyze their diagnostic efficacy for MM. The expression level of hsa-miR-29b-3p was significantly higher in patients with newly diagnosed MM compared with the control group. ROC analysis showed that hsa-miR-29b-3p demonstrated a moderate diagnostic power in MM. The relative expression level of hsa-miR-29b-3p in patients with high LDH levels was markedly reduced compared to that in patients with normal and low LDH levels. DNMT3A expression level was significantly increased in patients with high LDH levels and patients with lambda light chain. Our results indicate that hsa-miR-29b-3p may be used as a potential biomarker in the diagnosis of MM.

Introduction: Amniotic Fluid Cells (AFCs) have emerged as a promising source for regenerative medicine due to their multipotent properties and accessibility. This study aimed to quantify pluripotency-associated transcript profiles in primary amniocyte cultures and evaluate their associations with gestational age, maternal age, and culture dynamics. Methods: This study analyzed the expression of ten pluripotency-associated genes (OCT3/OCT4, SOX2, KLF4, MYC, KIT, NANOG, DPPA3, DPPA5, FUT4, and SALL4) in primary AFC cultures derived from 17 pregnancies using quantitative real-time PCR (2-ΔΔCt; ACTB-normalized). Samples were evaluated according to gestational age, maternal age, and fetal sex; culture expandability was assessed based on the maximum passage achieved. AFC cultures were serially subcultured, and RNA was isolated independently at each available passage to quantify longitudinal passage-associated expression changes. Spearman’s rank correlation assessed associations between gestational age and maternal age (continuous variables) and expression of SOX2, DPPA5, KIT, NANOG, and SALL4, with Benjamini–Hochberg FDR adjustment (q = 0.05). Results: All investigated markers were detectable across the AFC cultures. In group-based analyses, SOX2, DPPA3, and DPPA5 expression levels were higher in cultures derived from lower gestational ages, while SOX2 and DPPA5 were higher in younger maternal-age groups (p < 0.05). Culture expandability showed positive associations with KIT and selected markers. Serial-passaging analyses suggested that KIT expression was maintained in cultures achieving extended passaging, whereas SOX2 and DPPA5 expression tended to decrease with increasing passage number. Discussion: These findings indicate that developmental timing and in vitro culture dynamics are associated with variability in pluripotency-marker expression in primary amniocyte cultures. Transcript- level profiling may therefore help contextualize inter-individual heterogeneity and passagerelated shifts relevant to stem cell biology and standardized culture selection. Conclusion: AFC pluripotency-marker transcripts vary with gestational age, maternal age, and passaging. These transcript-level findings provide a quantitative reference but require protein/functional validation in larger, standardized cohorts.

Background: Myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) are clonal stem cell disorders in which disrupted post-transcriptional regulation contributes to aberrant hematopoiesis and leukemic transformation. The miRNA biogenesis machinery, which comprises Drosha, DGCR8, Dicer, TARBP2, and AGO1, ensures the precise maturation of miRNAs that control lineage commitment and proliferation. However, the extent to which alterations in this pathway reshape hematopoietic gene networks during myeloid disease evolution remains largely unexplored. Methods: Bone marrow samples from newly diagnosed, untreated MDS and AML patients and matched healthy controls were analyzed for the expression of five key miRNA biogenesis genes using quantitative real-time PCR. Statistical comparisons, correlation matrices, and ROC analyses were performed to characterize gene-expression differences. These results were integrated with multigene logistic modeling, decision-curve analysis, and exploratory random forest/SHAP approaches to evaluate molecular interactions and diagnostic relevance. Results: DROSHA, DICER1, and TARBP2 were significantly downregulated in both MDS and AML, suggesting impaired miRNA maturation and a loss of global post-transcriptional control. DGCR8 expression increased across higher-risk MDS groups, suggesting compensatory activation of the Microprocessor complex, whereas AGO1 levels remained relatively stable, consistent with partial maintenance of RISC function. Correlation analyses revealed a co-regulated DROSHA–TARBP2–AGO1 module. ROC, logistic, and machine learning models identified DGCR8 and DICER1 as the strongest diagnostic discriminators. The integrated five-gene signature achieved high discriminative performance (AUC ≈ 0.98) and showed promise but remains preliminary potential for clinical application. Conclusions: Our findings suggest that defects in miRNA biogenesis disrupt hematopoietic homeostasis, reflecting common mechanisms in MDS and AML. The dysregulation of DICER1, DGCR8, and TARBP2 offers insights into miRNA-driven leukemogenesis and may pave the way for miRNA-based diagnostic and therapeutic strategies, pending validation in larger cohorts. Although transcript-level data are provided, future studies should include functional validation to determine the impact on downstream miRNA processing and hematopoietic pathways.

Amaç: Bu çalışmada apoptotik uyarıcı Fas hücre yüzey ölüm reseptörü (FAS) ve FAS ligandı genleri (FASLG) polimorfizmlerinin tekrarlayan gebelik kaybı (TGK) etiyolojisindeki yeri araştırıldı.Gereç ve Yöntem: Bu vaka-kontrol çalışmasında, TGK tanısı almış 70 kadın ve kontrol grubu olarak 70 kadından genomik DNA izole edildi. Her iki gruptaki FAS -670 A>G, FAS -1377 G>A ile FASLG -124 A>G polimorfizmlerinin genomik dağılımı ve allel frekansları real-time PCR yöntemi ile belirlenerek karşılaştırıldı.Bulgular: Çalışmamızda, FASLG -124 A>G polimorfizmi için TGK ve kontrol gruplarının genotip frekans farkının istatistiksel olarak anlamlı olduğu saptandı. Ancak FAS −670 A>G ve FAS-1377 G>A genotipleri ile TGK arasında istatistiksel düzeyde anlamlı bir ilişki saptanmadı. FASLG −124 A>G polimorfizmi için A allelini taşıyanlarda hastalığın görülme olasılığı A allelini taşımayanlara göre 3,94 kat daha yüksek bulundu.Sonuç: Bulgularımız, apoptozla ilişkili FASLG -124 A>G polimorfizminin TGK oluşumuna katkısı olabileceğini düşündürmektedir.