Non-invasive prenatal testing (NIPT) based on fetal free DNA is a non-invasive technique to screen for common fetal aneuploidies by analyzing cell-free fetal DNA (cffDNA) in the peripheral blood of pregnant women. This technique has opened a new era of prenatal screening for its high safety and reliability. In recent years, it has been shown that NIPT can not only screen for fetal aneuploidies, but may also reveal maternal genomic abnormalities. The incidental detection of maternal tumors has aroused widespread concern in the clinical settings. The aim of this review is to systematically summarize the research progress of NIPT technique in incidental detection of maternal tumors, and to discuss its clinical significance, technical challenges, and future development direction. It has been found that multiple chromosome aneuploidies (MCAs) in NIPT detection is one of the important biomarkers suggesting occult maternal malignant tumors. In this paper, the relevant progress of NIPT technique in the incidental discovery of maternal tumors were reviewed in order to provide a reference for individualized and standardized application of NIPT technique in maternal health monitoring.

To analyze the clinical characteristics of patients with 11q23 rearrangement acute lymphoblastic leukemia (ALL) with non-KMT2A::AFF1 fusion genes.

To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention.

Although targeted therapy has made significant advances in cancer treatment throughout these years, drug resistance still remains a major obstacle. Plenty of evidence has proved that abnormal expression of receptor tyrosine kinase AXL is associated with targeted therapy resistance and poor clinical outcomes. AXL drives drug resistance through diverse mechanisms, including altering tumor cell phenotypes, orchestrating DNA damage response process, promoting the activation of bypass signals, or interacting with other receptor tyrosine kinases. Preclinical and clinical studies have demonstrated that combined inhibition of AXL and the other target can enhance the efficacy of various targeted therapies and improve outcomes for patients with drug resistance. This review summarizes recent advances in the specific roles of AXL in targeted therapy resistance and AXL-targeted treatment strategies. It further explores the potential clinical value of combinatorial approaches involving AXL inhibition and discusses future directions for its application in developing novel targeted therapies and advancing precision oncology treatment. 
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Metabolic reprogramming is a hallmark of cancer, with the Warburg effect-driven aerobic glycolysis leading to a substantial accumulation of lactate in the tumor microenvironment. For a long time, lactate was considered a mere metabolic end product; however, recent studies have found that it acts as an important signaling molecule, profoundly influencing tumor progression by inducing a novel post-translational modification - lactylation. Lactylation, driven by lactate, occurs on both histones and non-histone proteins and is finely regulated by the 'writer' 'eraser' and 'reader' mechanisms, thereby altering the function of target proteins and gene expression. This review systematically explores the bidirectional regulatory network between glycolytic reprogramming and lactylation: on one hand, key glycolytic regulators promote lactate production, thereby increasing lactylation levels; on the other hand, lactylation can feedback to regulate the activity and expression of key glycolytic enzymes, forming a pro-tumor positive feedback loop. This interaction plays a central role in tumor proliferation, metastasis, DNA damage repair, and immune evasion. Consequently, targeting lactate production, lactate transport, or the lactylation process itself has emerged as a highly promising anti-cancer strategy and shows potential synergy with existing therapies such as immune checkpoint inhibitors. In-depth analysis of the glycolysis-lactylation axis will provide a crucial theoretical basis for developing novel cancer treatment approaches.
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First-line immunotherapy for advanced non-small cell lung cancer (NSCLC) shows significant survival benefits in patients without driver mutations, but the optimal duration of treatment remains controversial. Some studies support limiting immunotherapy to 2 years, arguing that longer treatment does not bring additional survival benefits; while other studies believe that treatment should continue until disease progression to maximize survival benefits. This article systematically reviews the current research progress on the duration of immunotherapy and discusses the potential predictive value of biomarkers such as circulating tumor DNA (ctDNA), the best efficacy response, and programmed cell death ligand 1 (PD-L1) expression levels in individualized treatment decisions. More prospective studies, especially biomarker-driven trials, are still needed to clarify the optimal duration of treatment and establish an individualized treatment strategy based on multidimensional indicators.
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Non-small cell lung cancer (NSCLC) is one of the leading causes of cancer-related deaths worldwide, and its occurrence and development are closely related to complex molecular mechanisms. Alternative splicing of precursor mRNA is a key step in gene expression regulation, and its dysregulation is common in tumors. The serine/arginine-rich splicing factor (SRSF) family, a core protein family in splicing regulation, has been confirmed to play oncogenic roles in various cancers. However, systematic research on the SRSF family in NSCLC remains insufficient. This study aims to systematically analyze the specific expression patterns, clinical prognostic value, collaborative mechanisms and potential biological functions of SRSF individual members in NSCLC by the combination of bioinformatics analysis and experimental verification.

The prognosis for non-small cell lung cancer (NSCLC) with leptomeningeal metastasis (LM) is extremely poor. However, in oncogene addicted patients, the emergence of targeted therapies with high central nervous system (CNS) penetration is significantly reshaping the treatment landscape. Existing guidelines, which often favor conservative strategies, are no longer sufficient to meet the demands of precision medicine. To address this challenge, the Metastasis Lung Cancer Collaboration Group, Youth Specialists Committee of Beijing Medical Reward Foundation convened multidisciplinary experts from Medical Oncology, Radiology, Pathology, Radiotherapy, and Neurosurgery. Based on evidence-based medicine from the past decade and clinical practice experience, they have developed the Chinese expert consensus on clinical management of oncogene addicted NSCLC with leptomeningeal metastasis (2026 edition). This consensus emphasizes that the diagnosis of LM should be based on a comprehensive assessment of clinical symptoms, magnetic resonance imaging (MRI), and cerebrospinal fluid (CSF) cytology. It also highlights the critical role of CSF molecular liquid biopsy in clarifying driver gene status and assessing treatment efficacy. In terms of treatment, this consensus advocates for a fundamental paradigm shift: therapy should be led by a multidisciplinary team (MDT), with high-CNS-penetration targeted therapies as the first-line intervention, while local treatments (such as intrathecal injection and radiotherapy) are positioned as supplementary measures. The consensus provides a series of expert recommendations on key aspects, including the selection of high-CNS-penetration tyrosine kinase inhibitors (TKIs), the application of intrathecal chemotherapy, the timing of radiotherapy, and palliative surgery. It aims to establish proactive, individualized treatment standards for patients with NSCLC LM in China, based on molecular subtyping and MDT collaboration, thereby improving patient survival outcomes.
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To investigate the clinical characteristics and prognosis of childhood acute lymphoblastic leukemia (ALL) with PDGFRB rearrangement.

Objective: To investigate the differences in apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like (APOBEC) between human papillomavirus (HPV)-positive and HPV-negative head and neck squamous cell carcinoma (HNSCC) patients, analyze its association with the immune microenvironment and the cGAS-STING pathway, and evaluate its predictive value for immunotherapy efficacy. Methods: Whole-exome sequencing data from HNSCC patients (from September 2017 to March 2020 at the Third Affiliated Hospital of Kunming Medical University) were collected for somatic mutation profiling. APOBEC enrichment scores were calculated and integrated with differentially expressed genes (DEGs) to perform Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis and Gene Set Enrichment Analysis (GSEA). Single-cell RNA sequencing (scRNA-seq) data were utilized to validate the relationship between APOBEC3 expression, immune cell composition, and cGAS-STING module activity. Furthermore, an immunotherapy cohort was analyzed to evaluate the association of APOBEC3 family gene expression with immune checkpoint genes and therapeutic outcomes. Results: APOBEC mutational signatures were prevalent in both HPV-negative and HPV-positive HNSCC patients, but their driving patterns differed significantly: HPV-positive patients were dominated by APOBEC3A mutations, whereas the HPV-negative group exhibited a synergistic effect of multiple family members, including APOBEC3A/3B/3C/3D/3F. Pathway analysis indicated that in HPV-negative HNSCC, APOBEC activity was significantly associated with the enhancement of the cGAS-STING pathway, interferon response, and inflammatory response. Single-cell analysis confirmed that tumors with high APOBEC3 expression had richer immune cell infiltration, and the activities of four functional modules of the cGAS-STING pathway (cGAS-STING, NF-κB, interferon stimulation, and antigen presentation) were significantly upregulated. In the immunotherapy cohort, patients with high APOBEC3 expression exhibited higher expression of immune checkpoint molecules, and their treatment response rates were significantly superior to those in the low-expression group. Conclusions: APOBEC exhibits distinct driving mechanisms in HNSCC depending on HPV status. Its activity is closely related to cGAS-STING pathway activation, enhanced immune infiltration, and improved immunotherapy efficacy, suggesting potential predictive and therapeutic value.

Clinical data from five patients with refractory/relapsed acute myeloid leukemia (AML) and RUNX1::RUNX1T1 fusion gene, treated with venetoclax, cytarabine, and homoharringtonine-based cytoreductive therapy before allogeneic hematopoietic stem cell transplantation (allo-HSCT) at Ruijin Hospital between March 2023 and December 2024, were retrospectively reviewed. The median time from diagnosis to allo-HSCT was 315 days (range: 217-560) . All patients achieved full donor chimerism by day 30 post-allo-HSCT. Within 6 months after transplant, the RUNX1::RUNX1T1 fusion gene was undetectable in all patients, with a median time to negative conversion of 2 months (range: 1-6 months) . The median follow-up time was 625 days (range: 372-1 010) . All patients remained disease-free, with no events of measurable residual disease (MRD) positivity by flow cytometry or molecular analysis documented. These findings preliminarily confirm that venetoclax, cytarabine, and homoharringtonine-based cytoreductive therapy is a safe and effective bridging therapy for allo-HSCT in patients with refractory/relapsed AML and RUNX1::RUNX1T1 fusion gene.

Objective: To analyze the clinical characteristics, therapeutic regimens, and prognosis of double-hit multiple myeloma (DHMM) patients with concurrent 1q21 copy number gain (1q21+) and t (4;14) , and to explore effective strategies to improve outcomes of this high-risk subgroup. Methods: A retrospective analysis was performed on 96 newly diagnosed DHMM patients with both 1q21+ and t (4;14) admitted to Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from September 2014 to September 2024. Baseline clinical characteristics, prognosis, and independent prognostic factors were evaluated. A logistic regression model was used to analyze the correlation between induction regimens, autologous hematopoietic stem cell transplantation (auto-HSCT) , and minimal residual disease (MRD) negativity. Results: The median age of the 96 DHMM patients was 62 (range: 36-79) years. Among them, 50 cases (52% ) were at R2-ISS stage Ⅳ, 11 cases (11% ) had concurrent del (17p) , 35 cases (36% ) underwent auto-HSCT, 39 cases (41% ) received triple-agent induction therapy with proteasome inhibitor (PI) , immunomodulatory drug (IMiD) and anti-CD38 monoclonal antibody (CD38Ab) , 25 cases (26% ) achieved MRD-negative complete response (CR) . The clone size of 1q21+ was positively correlated with that of t (4;14) (r=0.46, P<0.001) , while the clonal burden of 1q21+ was significantly lower than that of t (4;14) . With a median follow-up of 36 (range: 6-126) months, the median progression-free survival (PFS) was 26 (95% CI: 22-50) months, and the estimated median overall survival (OS) was 4.3 (95% CI: 2.1-6.4) years. Extramedullary relapse occurred in 22 cases (23% ) . Multivariate analysis showed that newly diagnosed extramedullary involvement of soft tissue was an independent risk factor for both PFS and OS (all P<0.05) . Del (17p) shortened PFS, whereas MRD negativity significantly prolonged PFS. Both triple-agent induction therapy (PI+IMiD+CD38Ab) and auto-HSCT improved the MRD-negative rate (all P<0.05) . Conclusion: DHMM patients with concurrent 1q21+ and t (4;14) exhibit aggressive clinical features and poor prognosis. Triple-agent induction therapy (PI+IMiD+CD38Ab) and auto-HSCT are associated with MRD negativity and improved PFS, but achieving long-term survival remains challenging for these patients.

mRNA-targeted tumor drugs, featuring various types and distinct antitumor mechanisms of action, have demonstrated significant potential in tumor immunotherapy. Currently, nearly one hundred registered clinical trials initiated by pharmaceutical companies or sponsors are being conducted worldwide, and these trials have shown impressive efficacy. In China, multiple registered clinical trials have been conducted in the past two years, reflecting rapid development. Although mRNA tumor drugs still face certain challenges, the advantages of mRNA technology are clear, promoting the integrated development of immunotherapy, gene therapy, and cell therapy. With ongoing technological innovation and optimization, the demand for "mRNA therapy" for tumor prevention and treatment is expected to be met. This review discusses the distinct mechanisms of action, progress in basic research, clinical advancements, challenges, and future perspectives of both prophylactic and therapeutic mRNA cancer vaccines. It aims to enhance understanding of research progress in mRNA technology for oncological drug applications and to provide insights for future research and product development of mRNA-based interventions in oncology.

Objective: To investigate the clinical, pathological and molecular genetic characteristics of conjunctival melanoma (CoM). Methods: A retrospective case series study was conducted. The clinical, imaging and pathological data of patients diagnosed with CoM from January 2004 to June 2025 at Shaanxi Eye Hospital of Xi'an People's Hospital (Xi'an Fourth Hospital) and Xi'an First Hospital were analyzed. Some patients were detected for the BRAF V600E mutation. The χ2 test or the χ2 correction test was used for statistical analysis. Results: A total of 70 patients (70 eyes) with CoM were enrolled, aged (60.8±10.6) years, including 40 males (57.1%) and 30 females (42.9%). There were 33 cases (47.1%) in the left eye and 37 cases (52.9%) in the right eye. The tumor was located at the bulbar conjunctiva in 37 cases (52.9%), at the vault conjunctiva in 24 cases (34.2%), and at the palpebral conjunctiva in 9 cases (12.9%), involving the orbit in 13 cases (18.6%), the eyeball in 3 cases (4.3%), and the lacrimal sac in 6 cases (8.6%). Most patients presented with black nodules or cauliflower-like masses in the conjunctival area. Some tumors were accompanied by superficial vascular hyperplasia and pigmentation of adjacent tissues, while some invaded the cornea or orbit, resulting in clinical manifestations such as visual field defects, exophthalmos and limited movement. Imaging showed irregular soft tissue density shadows at the conjunctival site. According to the criteria of the American Joint Committee on Cancer, the tumor was at the T1 stage in 10 cases (14.3%), T2 stage in 41 cases (58.6%), and T3 stage in 19 cases (27.1%), with superficial ulcers in 6 cases (8.6%). Histopathology results disclosed that 67 cases (95.7%) were of the nodular type, 3 cases (4.3%) were of the superficially diffuse type, 47 cases (67.1%) were of the epithelial cell type, and 23 cases (32.9%) were of the mixed cell type. Sixty-three cases (90.0%) were accompanied by melanin, 32 cases (45.7%) were accompanied by primary acquired melanosis, including 23 cases (32.9%) with atypical primary acquired melanosis and 2 cases (2.9%) with conjunctival nevus, and 48 cases (68.6%) had tumor infiltrating lymphocytes. Immunohistochemistry demonstrated positive melanin markers such as human melanoma-associated antigen 45, melanocyte antigen A, S-100 protein and sex-determining region Y-frame protein 10. Thirty cases (42.9%) completed the detection of BRAF V600E mutations, of which 11 had BRAF V600E point mutations, with a positive rate of 36.7%. Sixty-two patients (88.6%) were followed up, with a recurrence rate of 27.4% (17/62), a metastasis rate of 19.4% (12/62), and a case fatality rate of 54.8% (34/62). The recurrence rate was 4/5 among patients with ulcers, versus 22.8% (13/57) among patients without ulcers (χ2=4.96, P=0.026); it was 8/13 among patients with orbital invasion, versus 18.3% (9/49) among patients without orbital invasion (χ2=9.62, P=0.002). Thirty-four patients (48.5%) underwent complete resection of the ocular mass, 16 (22.9%) underwent partial resection, and 20 (28.6%) underwent ocular or intraorbital enucleation. Ten patients (14.3%) received BRAF inhibitor-targeted therapy. Seven patients had a significant reduction of the residual mass and no tumor progression, and 3 patients did not respond to the treatment and died from the disease progression. Conclusions: CoM mostly occurs in the unilateral eye of middle-aged and elderly patients, more common at the bulbar conjunctiva and fornix conjunctiva, and histopathological epithelial cell types are the main types, with a high recurrence and metastasis rate.

To develop a machine-learning model that integrates routine clinical parameters with tumor mutational burden (TMB) and to evaluate its performance in predicting responses to programmed death-1 (PD-1)/programmed death-ligand 1(PD-L1) inhibitors across various cancer types.

Mantle cell lymphoma (MCL) is a rare B-cell lymphoma characterized by both the incurable nature of indolent lymphomas and the clinical course of aggressive lymphomas. The integration of high-dose cytosine arabinoside (Ara-C) and autologous hematopoietic stem cell transplantation (ASCT) has led to substantial improvement in the outcomes of MCL patients in the immunochemotherapy era. More recently, the widespread use of small molecule targeted agents, particularly Bruton tyrosine kinase inhibitor (BTKi), has re-shaped the therapeutic landscape of MCL patients and challenged the traditional role of high-dose Ara-C and ASCT. Novel immunotherapies including bi-specific antibodies and chimeric antigen receptor T-cell (CAR-T) therapy have emerged as important treatment options for MCL patients with relapsed or refractory disease. With advances in multi-omics profiling, the development of personalized, potentially curative strategies based on individual genetic and immune features is expected to become a major focus of future research on MCL. This article will delve into the latest research progress in the treatment and genetics and translational research on MCL patients, focusing on the latest progress of research on the treatment of newly diagnosed MCL patients, treatment of relapsed/refractory MCL patients, and the genetics and translational treatment of MCL patients, and explore the evolution and future direction of its treatment model.