Objective: To investigate the mutation spectrum of the PIK3CA gene in breast cancer, providing a new basis for the precise treatment of breast cancer with PIK3CA inhibitors. Methods: A retrospective analysis was conducted on 144 breast cancer patients who underwent biopsy before neoadjuvant therapy archived from 2015 to 2020 at the Fourth Hospital of Hebei Medical University. Next-generation sequencing (NGS) was utilized to detect the mutations of 520 genes closely related to the development of solid tumors and targeted therapies. The study compared the differences between reported mutation types and focused on analyzing the mutation status of the PIK3CA gene. The clinical and pathological characteristics, including age of onset, molecular subtypes, and Ki-67, were also analyzed. The correlation between PIK3CA mutations and clinicopathological characteristics was examined using Pearson×s chi-square test and Mann Whitney test. Logistic regression was employed to analyze factors influencing PIK3CA mutations. Kaplan-Meier survival analysis and Cox regression models were constructed using R programming. Results: Among the 144 breast cancer samples, 61 (42.3%, 61/144) exhibited PIK3CA gene mutations, of which 23 cases (53.5%, 23/43) were HER2-positive breast cancer, 28 cases (44.4%, 28/63) were luminal breast cancer, and 10 cases (27.8%, 10/36) were triple-negative breast cancer. Of the detected mutations, three hotspot mutations (H1047R, E545K, and E542K) accounted for 72.1% of the total PIK3CA mutations, with H1047R (52.4%), E545K (16.4%), and E542K (3.3%) most commonly detected. The remaining rare mutations accounted for 26.3%. Co-mutations involving PIK3CA and other genes were also observed in the cohort, occurring with TOP2A and FOXA1, while being mutually exclusive with GATA3 and BRCA2. PIK3CA mutations were significantly associated with HER2 status and were not significantly correlated with the patient's age, menopausal status, HR status, Ki-67 index, molecular typing, TNM stage or pCR status. Likewise, no significant correlation was found between different PIK3CA mutation status and overall survival. Conclusions: This cohort study shows the overall mutation rate of PIK3CA in breast cancer and the mutation frequencies across different molecular subtypes. The findings reveal a significant correlation between PIK3CA mutations and HER2 status, which provides a new basis for the precise treatment of breast cancer with PIK3CA inhibitors.

Acute Myeloid Leukemia with t (8;16) (p11;p13) is a rare subtype of AML. This article presents a retrospective analysis of a 19-year-old female patient with t (8;16) (p11;p13) AML, focusing on her clinical features and treatment course, alongside a review of relevant literature. The patient was admitted due to skin ecchymosis and gastrointestinal bleeding, rapidly progressing to disseminated intravascular coagulation. Bone marrow examination revealed an abnormal blast morphology resembling early promyeloblasts, and the initial diagnosis was acute promyelocytic leukemia. However, chromosomal analysis identified the t (8;16) (p11.2;p13.3) translocation. The patient was finally diagnosed with acute monocytic leukemia. Following intensive induction chemotherapy, she achieved complete remission, but relapse occurred during consolidation therapy. The overall prognosis was poor. AML with t (8;16) (p11;p13) is relatively rare and characterized by distinct clinical and laboratory features, with a generally unfavorable prognosis. Early recognition by clinicians is crucial for appropriate management.

To identify potential molecular targets of quercetin in the treatment of clear cell renal carcinoma (ccRCC).

To confirm the sequence of a null allele HLA-C*08:127N produced by a base insertion.

To explore the clinical significance of 26 circulating tumor DNA (ctDNA) associated with multiple myeloma (MM) in peripheral blood of new diagnosed patients.

To screen novel diagnostic marker or therapeutic target for multiple myeloma (MM).

To analyze the molecular genetic spectrum of children with acute myeloid leukemia (AML), and explore its correlation with clinical characteristics and prognosis.

To investigate the expression of long non-coding RNA plasmacytoma variant translocation 1 (lncRNA-PVT1) in children with acute lymphoblastic leukemia (ALL) and its correlation with prognosis.

To characterize the occurrence of SRSF2 mutations in chronic myelomonocytic leukemia(CMML) patients and their correlation with other gene mutations and some clinical characteristics.

To identify potential biomarkers of salivary gland adenoid cystic carcinoma to further understand the potential pathogenesis of adenoid cystic carcinoma.

To explore the expression of hub genes, pathways and inhibitory immune checkpoints of CD8+ T cells in metastatic lymph nodes of head and neck squamous cell carcinoma(HNSCC) in C3H/He mice.

Somatic mutations in the promoter region of telomerase reverse transcriptase (TERT), a critical mechanism for telomerase reactivation, play a key role in tumorigenesis. The status of TERT promoter mutation serves as a crucial molecular biomarker for glioma assessment and classification, and is essential for early diagnosis of glioma subtypes, guiding treatment decision-making, and improving patient prognosis. With the recognition of the importance of molecular subtyping of gliomas, there has been a surge in research on non-invasive prediction of key molecular biomarkers based on preoperative imaging of gliomas, with a particular focus on TERT promoter studies using radiomics approaches. This article presents a comprehensive review of research on TERT promoter mutations in gliomas and imaging-related studies, with the goal of providing insights for future studies on non-invasive prediction of TERT promoters status and offering important references for the precision diagnosis and treatment of glioma patients.

To investigate the causal associations between components of metabolic syndrome (MetS) and endometrial carcinoma using Mendelian randomization (MR).

Fusion variations of neurotrophic receptor tyrosine kinase (NTRK) are oncogenic drivers in various solid tumors such as breast cancer, salivary gland carcinoma, infant fibrosarcoma, etc. Gene rearrangements involving NTRK1/2/3 lead to constitutive activation of the tropomyosin receptor kinase (TRK) domain, and the expressed fusion proteins drive tumor growth and survival. NTRK fusions are estimated to occur at a frequency of approximately 0.1% to 1% in non-small cell lung cancer (NSCLC). Epidermal growth factor receptor (EGFR) mutations are prevalent in NSCLC, but the frequency of EGFR G719A mutation is relatively low (about 2%), and EGFR mutations are typically mutually exclusive with NTRK fusion variants. The study presented the first documented case of lung adenocarcinoma harboring both EGFR G719A mutation and LMNA-NTRK1 fusion. A review of the literature was conducted to elucidate the role of NTRK fusion mutations in NSCLC and their relationship with EGFR mutations, aiming to enhance the understanding of NTRK fusion mutations in NSCLC.
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In the real world, the plasma drug concentration range of Icotinib treated with epidermal growth factor receptor (EGFR) gene mutant non-small cell lung cancer (NSCLC) is not yet clear, and there may be a correlation between drug concentration and its efficacy, as well as adverse reactions. This study conducted therapeutic drug monitoring (TDM) of Icotinib. The aim of this study was to analyze the drug exposure of Icotinib in targeted therapy for NSCLC, and to investigate the relationship between Icotinib drug concentration and its efficacy and safety.

Ferroptosis-related genes play a crucial role in regulating intracellular iron homeostasis and lipid peroxidation, and they are involved in the regulation of tumor growth and drug resistance. The expression of ferroptosis-related genes in tumor tissues can be used to predict patients' future survival times, aiding doctors and patients in anticipating disease progression. Based on the sequencing data of lung adenocarcinoma (LUAD) patients from The Cancer Genome Atlas (TCGA) database, this study identified genes involved in the regulation of ferroptosis, constructed a prognostic model, and evaluated the predictive performance of the model.

Objective: To analyze the treatment-free remission (TFR) outcomes after discontinuation of tyrosine kinase inhibitor (TKI) in children with chronic myeloid leukemia (CML). Methods: In this retrospective cohort study, clinical data of 14 chronic phase CML children aged <18 years who had achieved stable deep molecular response (DMR) for ≥ 2 years after standardized treatment with TKI and had a strong desire to discontinue TKI at Henan Cancer Hospital from September 30, 2016 to January 30, 2022 were collected retrospectively. According to the different TFR outcomes after discontinuation of TKI, patients were divided into loss of major molecular response (MMR) group and without loss of MMR group, differences in clinical characteristics between the two groups of children were analyzed using Mann-Whitney U test and Fisher exact test. Results: Out of 14 children with TKI discontinuation, 7 were male and 7 were female. The age at diagnosis was 14.0 (4.8, 17.0) years, and the age at TKI discontinuation was 22.0 (12.5, 27.0) years. Among them, 8 children were treated with imatinib prior to TKI discontinuation and 6 children were treated with second-line substitution of the second-generation TKI nilotinib or dasatinib prior to TKI discontinuation. The follow-up time was 37.0 (27.8, 47.5) months, and 7 cases lost MMR at the time of discontinuation of 3.0 (2.0, 11.0) months. Eight children gained TFR at 6 months, 7 children gained TFR at 12 and 24 months. Amongst the 6 children who received second-generation TKI prior to TKI discontinuation, 2 children lost MMR at 3 and 11 months and 4 children gained TFR, among the 8 children who discontinued imatinib, 5 children lost MMR at the time 3.0 (2.0, 9.0) months and 3 children gained TFR. The age at diagnosis and TKI discontinuation, the time from TKI treatment to the acquisition of DMR, the duration of TKI treatment before TKI discontinuation, the duration of DMR before TKI discontinuation, and the number of children treated with second-generation TKI were not statistically different between the 7 children in the group that did not lose the MMR and the 7 children in the group that lost the MMR (all P>0.05). All the 7 children with confirmed loss of MMR immediately restarted TKI therapy, and all regained DMR after 2.0 (2.0, 11.0) months of therapy. None of the children had disease progression. After TKI discontinued, only 1 child had mild bone pain, which could be relieved by oral antipyretic analgesic drugs. Conclusions: Children with CML who have achieved a durable stable DMR for≥2 years on TKI therapy can discontinue the TKI and obtain TFR. Both the longer duration of TKI therapy, the longer duration of DMR and the use of second-generation TKI therapy before TKI discontinuation, may allow more children with CML who are expecting TKI discontinuation to have access to TFR.

Objective: To investigate the clinicopathological characteristics and molecular features of synchronous endometrial and ovarian endometrioid carcinoma (SEO-EC). Methods: A total of 28 patients diagnosed with SEO-EC at the Peking University Third Hospital, Hunan Cancer Hospital and Peking University People's Hospital between September 2016 and July 2023 were included retrospectively. Next-generation sequencing (NGS) was performed to assess the clonal relatedness of 28 paired endometrial and ovarian tumors. Extra-uterine-ovarian disease specimens in four patients diagnosed with SEO-EC were further tested with comprehensive NGS analysis. Normal tissue/blood samples of 27 patients were available for NGS analysis. All cases were classified according to WHO 2020 histologic criteria and FIGO 2023 staging system. Relevant clinicopathological features were also analyzed. Results: The age of 28 patients was (47.3±8.5)years. Most patients (85.7%, 24/28) were premenopausal. In most instances, ovarian and endometrial carcinomas exhibited consistent morphology (82.1%, 23/28) as well as molecular subtypes (96.4%, 27/28). NGS confirmed a clonal relationship in all cases. The most common somatic mutations shared between endometrial and ovarian tumors were PTEN (64.3%, 18/28), PIK3CA (46.4%, 13/28), ARID1A (28.6%, 8/28), CTNNB1 (25.0%, 7/28), and KRAS (21.4%, 6/28). A majority of patients (82.1%, 23/28) exhibited a favorable prognosis, with only 5 patients identified as the WHO high-risk group and FIGO advanced-stage experiencing recurrence and tumor-specific death. In addition, 22.2% (6/27) of patients carried pathogenic germline mutations. Conclusions: In this study, there is a high degree of concordance between the histologic and molecular subtypes of the endometrial and ovarian tumors in SEO-EC. We confirmed a clonal relationship in all tested paired SEO-EC. Patients identified as the WHO high-risk group and advanced FIGO stages may exhibit a poor prognosis in SEO-EC.

Objective: To investigate the role of YTHDF2 in cervical lesions and its potential molecular mechanism. Methods: Gene expression data of cervical tissue were obtained from the GEO database to analyze the expression of YTHDF2 mRNA and perform pathway enrichment analysis. Patients with cervical lesions diagnosed by thinprep cytologic test in Gynecological Outpatient Department of Maternal and Child Health Hospital in Jiexiu, Shanxi Province, were selected as the research subjects. Data of cervical lesions and cervical exfoliated cells were collected. HPV infection status was detected by flow-through hybridization, and the expression of YTHDF2 mRNA was detected by reverse transcription real-time polymerase chain reaction. The expression of YTHDF2 in cervical lesions and the mediating role of HPV infection in the relationship between YTHDF2 and squamous intraepithelial lesion (SIL) were evaluated. YTHDF2-related genes were screened from multiple datasets in the GEO and ENCORI databases, and their expression, immune infiltration, and survival analysis were performed to assess the association between YTHDF2 and prognosis. Results: Compared with normal cervical tissue, YTHDF2 was highly expressed in cervical lesion tissue (P<0.05). A total of 3 672 differentially expressed genes were screened from the dataset GSE49339. Gene Ontology analysis showed that YTHDF2 was mainly involved in transcription regulation. Kyoto Encyclopedia of Genes and Genomes analysis showed that YTHDF2 might be related to HPV infection and other signaling pathways. In the mediation analysis, χ2 test results showed that the expression level of YTHDF2 was significantly different among groups (χ2=22.47, P<0.001). Trend χ2 test further showed that the expression level of YTHDF2 was upregulated with the degree of cervical precancerous lesions (trend χ2=10.26, P=0.001). Multivariate logistic regression analysis indicated that high YTHDF2 expression increased the risk of low-grade squamous intraepithelial lesions (OR=3.15, 95%CI: 1.93-5.15) and high-grade squamous intraepithelial lesions (OR=1.85, 95%CI: 1.01-3.39). Mediation effect analysis revealed a partial mediating effect of HPV infection between YTHDF2 and SIL, accounting for 32.02% of the total effect. Twelve YTHDF2 related genes were screened by the intersection of multiple datasets. The immune infiltration analysis results showed that YTHDF2 and related genes KLF4, E2F3 and HOXC6 were associated with immune infiltration (all P<0.05). Multivariate Cox proportional hazard regression model analysis showed that low expression of KLF4 (HR=0.53, 95%CI: 0.30-0.94) and high expression of RHOB (HR=1.80, 95%CI: 1.04-3.13) were risk factors for the prognosis of cervical cancer. Conclusion:YTHDF2 is highly expressed in cervical lesions and may have been involved in the regulation of HPV infection-related pathways and its downstream related genes are related to immune infiltration and prognosis of cervical cancer, providing a theoretical basis for the study of mechanisms related to cervical lesions.

Lung cancer is a major cause of cancer-related mortality worldwide. Among patients with non-small cell lung cancer (NSCLC), approximately 3%-7% harbor anaplastic lymphoma kinase (ALK) gene fusions. In recent years, multiple tyrosine kinase inhibitors (TKIs) have significantly improved the survival of patients with metastatic ALK-positive NSCLC. However, disease progression due to resistance remains a challenge. This article retrospectively analyzes a case of advanced lung adenocarcinoma with the echinoderm microtubule associated protein like 4 (EML4)-ALK fusion variant 3 (V3). The patient developed resistance to Lorlatinib treatment accompanied by mesenchymal-epithelial transition factor (MET) amplification. Effective tumor control was achieved with the combined use of Crizotinib and Lorlatinib, providing a valuable reference for further exploration of treatment strategies following resistance to ALK-TKIs in clinical practice.
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