Immune checkpoint inhibitor (ICI)-based immunotherapy has emerged as a transformative treatment strategy for stage III non-small cell lung cancer (NSCLC), significantly improving outcomes in both neoadjuvant and adjuvant settings. However, predictive biomarkers of response to immunotherapy remain limited, and identifying patients most likely to benefit from these treatments remains a critical unmet need. DNA polymerase epsilon (POLE) mutations, although rare in NSCLC, are associated with an increased tumor mutational burden (TMB) and enhanced neoantigen presentation, both of which are mechanistically linked to increased sensitivity to immune checkpoint inhibitor therapy. This case report describes a 52-year-old woman diagnosed with stage IIIA NSCLC whose tumor demonstrated negative programmed death-ligand 1 (PD-L1) expression, a factor typically associated with reduced likelihood of response to immunotherapy. Molecular profiling revealed a somatic POLE mutation (NM_006231.4: c.1270C>G, p.Leu424Val) in the absence of additional targetable tumor alterations. A perioperative chemo-immunotherapy approach was implemented, consisting of three cycles of neoadjuvant carboplatin, pemetrexed, and pembrolizumab, followed by curative-intent surgery. Restaging computed tomography after neoadjuvant therapy revealed a significant radiographic response, and histopathological examination of the surgical specimen demonstrated a pathological complete response (pCR), with no viable tumor cells identified.

Thrombotic thrombocytopenic purpura (TTP) is a rare but life-threatening hematological emergency defined by severe deficiency of ADAMTS13, a metalloproteinase that cleaves ultra-large von Willebrand factor multimers. However, TTP-like syndromes without ADAMTS13 reduction can occur in the context of systemic infections such as human immunodeficiency virus (HIV), posing significant diagnostic and therapeutic challenges, particularly in high-risk and underdiagnosed populations. This case report describes a 45-year-old transgender woman who presented with abdominal and lumbar pain, severe anemia, and thrombocytopenia. Laboratory evaluation revealed schistocytes on peripheral blood smear, elevated lactate dehydrogenase, and indirect hyperbilirubinemia, prompting a high PLASMIC score and urgent initiation of plasma exchange for suspected primary TTP. However, subsequent investigations revealed preserved ADAMTS13 activity, effectively excluding immune-mediated TTP, and uncovered a previously undiagnosed advanced HIV infection with profound immunosuppression (CD4+ T-cell count of 33 cells/µL), accompanied by active Epstein-Barr virus (EBV) and human herpesvirus 8 (HHV-8) viremia. Further evaluation revealed disseminated AIDS-related Kaposi's sarcoma. Despite timely initiation of antiretroviral therapy and comprehensive supportive care, the patient experienced progressive clinical deterioration and died on day 69 of hospitalization.

Hereditary spherocytosis (HS) and thalassemia are among the most common inherited hemolytic anemias, yet their co-occurrence presents unique diagnostic challenges due to overlapping clinical manifestations. This case report describes a unique presentation of concurrent hematological disorders in a 2-year-old Chinese boy: hereditary spherocytosis caused by a novel gene mutation, together with α-globin gene triplication. The child presented with a history of longstanding hemolytic disease, with recurrent episodes of anemia, jaundice, and abdominal pain triggered by upper respiratory infections, accompanied by splenomegaly and cholecystolithiasis. Laboratory evaluation revealed increased osmotic fragility of red blood cells and elevated reticulocyte count, supporting a diagnosis of hemolytic anemia. Mutation analysis identified a de novo heterozygous mutation in the SPTB gene: c.149-1G>A, a novel splicing mutation not detected in either parent and not previously reported in the literature. This pathogenic variant is speculated to affect pre-mRNA splicing of β-spectrin, a critical component of the erythrocyte cytoskeleton. Concurrently, the child was found to carry α-globin gene triplication (αααanti4.2), a relatively rare numerical variation that may complicate the clinical presentation by altering hemoglobin synthesis.

For the first time, researchers have discovered a single gene that simultaneously controls both the sourness and the colour of citrus fruit. 

Plants of the Panax genus—which includes ginseng and notoginseng—are known to suppress the growth of neighbouring plants through chemical warfare, but the precise molecular weapons and their targets have remained unclear. 

Grape aroma is shaped not only by the volatile compounds we can smell but also by their non‑volatile, sugar‑bound counterparts—flavour precursors locked away until fermentation releases them. 

For centuries, Epimedium has been used in traditional medicine to support bone health and vitality, yet the precise location of its active compounds within the plant—and the enzymes that create them—has remained a mystery. 

Fruit firmness is usually treated as a trait that is lost during ripening, but new evidence shows that part of the story begins much earlier, while the fruit is still building its structure. 

Patients with severe β-thalassemia face not only lifelong dependence on blood transfusions but also the management of serious and potentially life-threatening complications. The pathophysiology of this disorder is largely attributed to a defective transition from γ-globin to β-globin gene expression, a process essential for normal hemoglobin production after birth. This developmental transition involves the silencing of fetal γ-globin and coordinated activation of adult β-globin gene transcription. Central to this regulation are transcription factors that directly bind to the γ-globin promoter. This review synthesized recent advances in understanding the γ-to-β-globin switch, focusing on four principal transcription factors – GATA1, BCL11A, ZBTB7A, and NFY – and partner proteins including GATA2 and KLF1. In addition, we proposed a competitive binding model in which the GATA1/NFY and ZBTB7A/BCL11A protein complexes compete for promoter occupancy. This model provides a useful framework that may inform future strategies for the prevention, diagnosis, and treatment of β-thalassemia.

This study explored the link between cuproptosis, a type of cell death, and unexplained infertility (UI) using gene expression data. Researchers analyzed 27 cuproptosis-related genes in endometrial samples from UI patients, identifying two molecular clusters linked to immune cell infiltration. They tested seven machine learning models to predict UI, finding the support vector machine (SVM) model most effective, with high accuracy (AUC 0.918). The study suggests five cuproptosis-related genes could be potential biomarkers for UI, offering insights into the disease's molecular basis and aiding in future diagnostic and treatment strategies.