Visualizing Receptor Transport Within Neurons via Transcytosis

As spindly, elongated cells, neurons must be able to transport proteins and receptors between distant sites in their cell bodies and axons to function properly. A new imaging study by researchers at Johns Hopkins University has now visualized the ebb and flow of the nerve growth factor receptor TrkA within neurons, via an unusual process known as transcytosis. Their study also explains how this phenomenon supports neuronal function and connectivity in mice.

Senior and corresponding author Rejji Kuruvilla, PhD, at Johns Hopkins University Department of Biology, and colleagues reported on their findings in Science Signaling, in a paper titled “Transcytosis-mediated anterograde transport of the receptor TrkA mediates the formation of presynaptic sites in sympathetic neurons.” In their paper, the authors concluded, “These findings provide mechanistic insight into an atypical mode of receptor trafficking and demonstrate its physiological relevance in sympathetic neuron connectivity in mice … Our study suggests that transcytosis might be a more general mechanism than now appreciated for the targeted transport of trophic and guidance receptors, adhesion and synaptic proteins, as well as ion channels.”

The axons of neurons are extremely long compared to their main cell bodies, with axon terminals sometimes residing a long distance from the cell nucleus. “Axon terminals can be meters away from cell bodies where many axonal membrane proteins with critical functions in regulating axon guidance and growth, neuronal survival, presynaptic organization, and synaptic transmission are made,” the authors wrote.

Neurons need to be able to transport these proteins efficiently across these relatively vast distances. They do this by either directly sending the protein through a secretory pathway or via an indirect mechanism called transcytosis. The latter occurs when the central cell body takes in newly synthesized proteins or surface receptors, after which they move to axons through the cell cytoplasm. “Transcytosis is an atypical endocytosis-based mechanism, where newly synthesized proteins are first inserted on cell body surfaces, internalized, and anterogradely transported to axons,” the team continued.

Transcytosis is still relatively obscure and enigmatic compared with the direct secretion method, and questions remain about how exactly it sustains the function and connectivity of neurons. “In contrast to the considerable progress made in understanding the direct secretory pathway, there is limited knowledge about transcytosis, specifically the underlying transport kinetics and organelles involved, whether it occurs in vivo, and its contributions to neuronal connectivity and function,” the investigators noted.

Seeking answers, first author Kuruvilla, together with first author Guillermo Moya-Alvarado, PhD, and colleagues, used live cell imaging and electron microscopy to peer at the movement of receptors across compartments within mouse neurons.

They visualized the trafficking dynamics and transcytosis of a receptor named TrkA. “The family of tropomyosin-related kinase (Trk) receptors provides a prominent example of membrane proteins that undergo long-distance axonal trafficking to control neuronal survival, axon growth, and synaptic transmission,” the scientists explained.

Through their study, the authors noted various shifts in speed and direction as vesicles carried TrkA from the soma to axons. Using labeled TrkA proteins, the scientists also confirmed that transcytosis occurred within nerve terminals of living mice. “Live imaging and electron microscopy of compartmentalized cultures revealed that soma surface–derived TrkA proteins underwent dynamic transport within axons, with changes in speed, direction, and the vesicular organelles that carried them as they moved from proximal to distal axon compartments,” they stated. “In mice, soma surface–labeled TrkA proteins were observed in sympathetic nerve terminals, demonstrating that transcytosis occurs in vivo.”

Assessing TrkA receptors transcytosis from cell bodies to nerve terminals in vivo. Superior cervical ganglion (SCG) in Ntrk1Flag mice, at postnatal day 2 to day 3 were injected in one of each paired ganglia per animal with the contralateral ganglion and target tissues (noninjected side) serving as internal controls to assess any systemic leakage of injected label. Representative image of the injected side. Flag (green) and sympathetic neurons (Tuj1, red) immunofluorescence in the superior cervical ganglia. DAPI is shown in blue. Scale bars, 50 μm. [All images and movies were generated by Guillermo Moya Alvarado]
Assessing TrkA receptors transcytosis from cell bodies to nerve terminals in vivo. Superior cervical ganglion (SCG) in Ntrk1Flag mice, at postnatal day 2 to day 3, were injected in one of each paired ganglia per animal with the contralateral ganglion and target tissues (noninjected side) serving as internal controls to assess any systemic leakage of injected label. Representative image of the injected side. Flag (green) and sympathetic neurons (Tuj1, red) immunofluorescence in the superior cervical ganglia. DAPI is shown in blue. Scale bars, 50 μm. [All images and movies were generated by Guillermo Moya Alvarado]

They also found that disrupting its transcytosis by introducing a point mutation into TrkA reduced the number and size of presynaptic sites and decreased synaptic transmission in culture and in rodents in vivo, confirming the importance of the process for neuronal physiology.  “These findings provide mechanistic insight into an atypical mode of receptor trafficking and demonstrate its physiological relevance in sympathetic neuron connectivity in mice,” the team concluded “Uncovering mechanisms of axon delivery has implications that extend beyond the healthy nervous system to understanding cell biological pathways that contribute to nerve repair after injury or neurodegeneration, because the correct complement of membrane proteins must be accurately targeted to regenerating axons to ensure functional recovery.”

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Targeted Ultrasound Could Offer Alternative to Chronic Pain Medication

A new study has shown that targeting ultrasound stimulation to brain regions involved in processing pain can induce long-lasting changes in brain activity, significantly reducing pain perception. Published in Nature Communications, these findings point at a novel non-invasive strategy to treat chronic pain. 

“Our study represents an important first step in understanding how this technology can non-invasively stimulate deep brain regions involved in pain processing,” said Sam Hughes, PhD, senior lecturer in pain neuroscience at the University of Exeter. “We found that targeting a specific brain region involved in pain processing can alter how pain is perceived and change how this area communicates with other parts of the brain’s pain network. The next stage of our research will be to test whether this approach can help people living with chronic pain.”

Hughes and colleagues used transcranial ultrasound stimulation (TUS), a low-intensity neuromodulation technique, to target the dorsal anterior cingulate cortex (dACC), a brain region implicated in chronic pain. The study recruited a total of 32 healthy volunteers, who were treated either with TUS or a sham while putting their right hand in a cold gel to trigger pain due to the low temperature. All participants were asked to rate the severity of the pain they were feeling and underwent MRI and MRS scans to monitor the physiological changes caused by the treatment. 

Results showed that, while TUS had no immediate effect on pain intensity, participants reported a significant reduction in pain from 28 to 55 minutes after the stimulation, suggesting it can trigger a delayed analgesic effect. At the physiological level, TUS was found to disrupt the relationship between temperature and pain intensity, increasing the connectivity between the dACC and other brain regions involved in pain modulation and changing the concentration of the GABA neurotransmitter within the dCC. 

“The study aimed to characterize how transcranial ultrasound stimulation interacts with—and potentially also alters—the brain’s processing of pain,” said Sophie Clarke, PhD, postdoctoral research fellow at the University of Plymouth and lead author of the study. “Understanding these mechanisms will be very important to support the next steps in understanding whether the stimulation can be effective in helping patients with chronic pain.”

Previous research at the University of Plymouth had shown the potential benefits of TUS for psychiatric conditions including anxiety, depression, and addiction. This study shows these benefits could extend beyond neurological disorders and one day offer a non-invasive treatment option for those experiencing chronic pain due to conditions such as fibromyalgia, back pain, and arthritis, or recovering after cancer treatment.  

“Having shown the use of ultrasound can yield positive results for people with a variety of neurological conditions, we wanted to explore what it could mean for those living with chronic pain,” said Elsa Fouragnan, PhD, director of the University of Plymouth’s Brain Research and Imaging Centre (BRIC) and Centre for Therapeutic Ultrasound (CENTUS). “Most of us know someone experiencing chronic pain, and there are very few treatments that deliver any form of long-term benefit. The findings of this new work are really promising, and we are already building on it to assess whether TUS could be a beneficial and non-invasive therapeutic treatment.”

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TNBC Ecotypes Reveal Molecular Signatures Tied to Chemotherapy Response

Researchers at The University of Texas MD Anderson Cancer Center have identified immune cell and tumor-specific features in triple-negative breast cancer (TNBC) that may help predict which patients are most likely to respond to chemotherapy before treatment begins, according to a study published in Nature. Using single-cell and spatial transcriptomic analyses of pretreatment tumor samples, the team identified specific macrophage subtypes and cancer-cell gene expression programs associated with response to neoadjuvant chemotherapy (NAC). The team also developed a 13-gene panel and a machine learning model that could help classify tumors according to their likelihood of responding to chemotherapy.

“This study provides novel insights into the gene-expression programs and the different cell states of the tumor microenvironment in patients with triple-negative breast cancer,” said Nicholas Navin, PhD, chair of systems biology at MD Anderson. “Importantly, we’ve identified certain programs and macrophage subtypes that are associated with good responses to neoadjuvant chemotherapy, which has tremendous potential to improve patient outcomes.”

TNBC accounts for between 10% and 20% of breast cancer cases. Because it lacks estrogen, progesterone, and HER2 receptors, treatment options are limited, resulting in a higher rate of recurrence compared with other form of breast cancer. Chemotherapy is the main treatment approach, particularly in early-stage disease, where neoadjuvant chemotherapy can achieve pathological complete response in 40% to 50% of patients. However, treatment outcomes vary widely from patient to patient, and researchers have been looking for ways that can better predict response before therapy begins.

For this study, the researchers analyzed pretreatment core biopsy samples from treatment-naive patients with early-stage TNBC. They performed single-cell RNA sequencing on 427,857 cells collected from 101 patients and spatial transcriptomic profiling on tumors from 44 patients. The findings also were compared with normal breast tissue data from the Human Breast Cell Atlas.

Based on their testing the researchers classified TNBC tumors into four patient-level “archetypes” based on cancer-cell gene expression patterns. They also identified 13 metaprograms that reflected heterogeneity within tumors at the single-cell level.

The tumor microenvironment consisted of 49 immune and stromal cell states organized into eight cellular communities, or ecotypes, defined by the co-occurrence of cancer cells and surrounding immune cell populations. Researchers found these cellular neighborhoods were associated both with tumor archetypes and chemotherapy response.

The study homed in on macrophages, a type of immune cell that has received less attention in TNBC research than T cells. The investigators said that seven of eight macrophage cell states were significantly associated with treatment response, while none of the 14 T-cell and natural killer-cell states showed significant associations with NAC response.

Macrophage subtypes linked to interferon signaling and complement activity, identified as Mac-IFN and Mac-lip-C1Q, were more abundant in patients who achieved pathological complete response. By comparison, two macrophages associated with angiogenesis and extracellular matrix remodeling, called Mac-angio and Mac-ECM, were enriched in patients with residual disease after chemotherapy.

The team also found that tumors linked to good response to NAC showed increased interferon signaling and elevated expression of human leukocyte antigen class II genes. Researchers said these findings indicate that cancer cells themselves may actively participate in modulating immune signaling related to chemotherapy response.

As part of their work, the researchers developed a 13-gene transcriptional signature panel developed from the single-cell analyses that can be used as a predictive model for chemotherapy response. Researchers said the model’s predictions correlated with chemotherapy response and overall survival across multiple public TNBC cohorts.

These new findings have the potential to influence how patients with TNBC are treated in the future by helping clinicians identify which patients are more likely to benefit from standard chemotherapy and which patients may need alternative therapeutic strategies earlier.

In addition, “these findings suggest that targeting specific macrophage subtypes could potentially provide new therapeutic opportunities in TNBC,” the researchers wrote.

The MD Anderson team noted that the study is one of the first large-scale single-cell genomic studies of TNBC integrating cancer cells, immune cells and treatment-response data. Earlier research exploring tumor heterogeneity has often lacked therapy response information, focused only on cancer cells or immune cells separately, or included relatively small patient cohorts.

Whether single-cell RNA seq could eventually become a basis for predictive diagnostics remains an open question. Today, the method is still expensive and technically challenging, two hindrances to it wider adoption. The researchers noted, however, that advances in sample multiplexing and other methods compatible with formalin-fixed paraffin-embedded tissue could make it feasible in the future.

Clinton Yam, MD, an associate professor of breast medical oncology at MD Anderson, said the findings could support more individualized approaches to TNBC care.

“These insights provide an important foundation for improving our understanding of why different TNBC tumors respond differently to chemotherapy, and the findings have strong potential to inform future strategies aimed at better predicting treatment response and guiding more individualized care for patients with triple-negative breast cancer.”

Future research will focus on validating the predictive models in prospective patient cohorts and evaluating TNBC treated with chemo-immunotherapy, which has become the standard of care when TNBC is detected early. The researchers also plan to study longitudinal tumor samples collected before, during, and after treatment to better understand how cancer cells and the tumor microenvironment evolve over time and how those changes relate to chemotherapy response and survival.

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Personalized DNA Vaccine Shows Immune Activation and Survival Signals in Glioblastoma Trial

A personalized DNA vaccine targeting up to 40 patient-specific neoantigens generated robust immune responses and encouraging survival outcomes in patients with MGMT-unmethylated glioblastoma in a small Phase I clinical trial, according to new findings published in Nature Cancer.

The study evaluated GNOS-PV01, a personalized therapeutic cancer vaccine developed by Geneos Therapeutics in collaboration with researchers at Washington University School of Medicine in St. Louis. Investigators reported that the vaccine was safe, feasible to administer, and capable of stimulating circulating and tumor-infiltrating T-cell responses in a cancer type long considered highly resistant to immunotherapy.

Glioblastoma remains one of the deadliest cancers, with median survival typically ranging from 12 to 18 months. Patients with MGMT-unmethylated disease face especially poor outcomes because they derive limited benefit from temozolomide, a standard chemotherapy agent commonly used after surgery and radiation.

“Nothing really works in this MGMT-negative or unmethylated glioblastoma patient population,” said Niranjan Sardesai, Geneos’ CEO. “Median survival is around a year, and effective treatments are very much needed.”

The open-label, single-arm GT-20 study enrolled nine patients with newly diagnosed MGMT-unmethylated glioblastoma following surgical resection and radiation therapy. Each patient received a fully individualized vaccine constructed from neoantigens identified through sequencing of their own tumors. Vaccines encoded between 17 and 40 neoantigens per patient.

According to the paper, the vaccine caused no serious adverse events, unexpected toxicities, or dose-limiting toxicities. Eight of the nine evaluable patients developed measurable immune responses. The lone nonresponder had been treated with dexamethasone, an immunosuppressive corticosteroid frequently used in glioblastoma management.

Sardesai emphasized that the immunogenicity findings were particularly notable because glioblastoma is considered an “immune-excluded” tumor with low tumor mutational burden, characteristics that have historically limited the effectiveness of checkpoint inhibitors such as anti–PD-1 therapies.

“Checkpoint-based immunotherapy has not worked in GBM,” he said. “This is a cold tumor.”

The investigators also observed signals of clinical activity. Six-month progression-free survival and 12-month overall survival were each achieved in 66.7% of patients. Median progression-free survival was 8.5 months, while median overall survival reached 16.3 months. Survival at 24 months was 33%, including one patient who remains alive four years after surgery.

“What was very striking was that three of nine patients, or one-third of the patients, had lived more than two years,” Sardesai said. “The two-year survival rate is about 10% to 15%” with standard treatment approaches in this population.

The study also identified an association between stronger CD8-positive T-cell responses and longer survival. Investigators reported that patients generating higher levels of vaccine-induced cytotoxic T cells tended to experience improved overall survival.

One of the most compelling findings involved a long-term survivor who has remained progression-free for nearly five years. Researchers analyzed a brain biopsy obtained approximately three years after treatment initiation and identified vaccine-induced T-cell clones within the tumor tissue that matched T-cell populations detected in the patient’s blood.

“For the first time, we are able to match vaccine-driven immune responses,” Sardesai said. “We are able to see T-cell clones in the blood, and these T-cell clones have infiltrated and are found in her brain.”

The vaccine platform differs from earlier glioblastoma vaccine strategies in several ways. Rather than targeting a small number of antigens, the DNA-based approach allows investigators to incorporate a much larger neoantigen repertoire into each personalized product.

“These patients received as many as 40 different antigens that were identified from their own tumor,” Sardesai said. “Prior treatments had typically been looking at 20 or fewer in GBM.”

He argued that broader antigen targeting may be especially important in glioblastoma because of the disease’s pronounced intratumoral heterogeneity.

“When it comes to targeting cancer, more is better,” he said. “You want to take more shots on goal.”

Another distinguishing feature of the platform is its apparent ability to stimulate CD8-positive killer T cells, which are considered critical for direct tumor cell elimination. Sardesai noted that generating robust CD8 responses has historically been difficult for many cancer vaccine technologies.

Importantly, each vaccine is uniquely manufactured for a single patient.

“These are exquisitely personalized vaccines,” Sardesai said. “Every patient gets their own vaccine.”

The authors cautioned that the findings remain preliminary because of the trial’s small sample size and lack of a control arm. Still, they believe the results justify larger randomized studies.

“We are very encouraged by the data,” Sardesai said. “But this is still only nine patients. We have to replicate these findings in larger, well-controlled studies.”

The company has previously reported results using the same platform in hepatocellular carcinoma, suggesting the strategy could potentially extend across multiple tumor types characterized by immune exclusion and low tumor mutational burden.

“All cancers carry neoantigens,” Sardesai said. “These personalized cancer vaccines provide a very convenient way” to target those tumor-specific alterations across different cancers.

 

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Aberrant Splicing Patterns Could Predict Therapy Response in mRCC

Transcriptomic analysis of more than 100 metastatic renal cell carcinomas (mRCC) has revealed key differences in aberrant alternative gene splicing events between treatment responders and nonresponders that could aid prognostication in future.

“In the near term, these findings could help guide treatment selection by identifying patients more likely to respond to targeted therapies or standard immuno-oncology regimens,” said Patrick Pirrotte, PhD, director of the Integrated Mass Spectrometry Shared Resource at TGen and City of Hope, associate professor in TGen’s Early Detection and Prevention Division, and senior author of the paper.

“Longer term, splicing-derived antigens could provide a foundation for more personalized adoptive immunotherapy strategies tailored to the molecular features of an individual patient’s tumor,” he told Inside Precision Medicine.

Pirrotte explained that “alternative splicing [AS] is a fundamental transcriptional mechanism that expands proteomic diversity in normal cells, but aberrant splicing is increasingly recognized as a feature of cancer that can contribute to tumorigenesis, progression, and metastasis.”

His group, and collaborators, have previously demonstrated that aberrant splicing could act as a broadly relevant biomarker across different malignancies, including ovarian cancer and sarcomatoid renal cell carcinoma, but its diagnostic and predictive potential in mRCC remained largely unexplored.

To address this, Pirrotte and team conducted a retrospective analysis on tumor samples from 101 patients with mRCC who received immune checkpoint inhibitor (n=91) and/or targeted (n=77) therapies. Response rates to each of the therapies were 63% and 77%, respectively.

The researchers report in the Journal for ImmunoTherapy of Cancer that they identified 10 AS events that were specific to mRCC. Six of these were intron retention events and four were exon skipping events.

Differential AS analysis identified 461 slicing events that differed between responders and non-responders to immune checkpoint inhibitors and 253 events that differed between targeted therapy responders and non-responders. In both cases, more than 70% of novel AS events among responders involved intron retention.

“Intron retention was the predominant alternative splicing event observed in patients who responded well to therapy,” observed Pirrotte.

“Mechanistically, intron retention occurs when intronic sequences that are normally removed during RNA processing are retained in the mature transcript. This can generate novel amino acid sequences and, in some cases, tumor-associated antigens derived from aberrant splicing,” he explained. “A high intron-retention burden was associated with an immunogenic tumor microenvironment, marked by adaptive immune activation and enriched antigen processing. In simple terms, these cancer-specific splicing errors may help ‘flag’ tumor cells, making them more visible to the immune system.”

The team then investigated whether differentially spliced sequences shared between the immunotherapy and targeted therapy responder cohorts could potentially act as neoantigenic targets.

This revealed that novel peptide-generating AS events in the genes IFFO1 and ZNF692 were highly expressed among the responders. Both genes are known to play a role in tumorigenesis and metastasis in RCC and colorectal cancer. The researchers note that although the specific impact of AS events within these genes is unclear, the resulting neoantigens could play a role in future treatment approaches.

“It is becoming increasingly feasible to identify splicing-derived neoantigens that could be used in personalized immunotherapy approaches, including adoptive cell therapies such as CAR T-cell or tumor-infiltrating lymphocyte therapies,” said Pirrotte. “These strategies are designed to train or redirect a patient’s immune system to recognize tumor-specific antigen signatures. In this case, the targets would be antigens generated by aberrant splicing events, allowing immune cells to selectively recognize and kill cancer cells.”

Finally, the investigators showed that tumors with higher levels of aberrant splicing were more common among therapy responders than nonresponders. This could potentially be used as a biomarker for treatment response.

“Current biomarkers such as PD-L1 expression and microsatellite instability have shown limited and inconsistent predictive value in mRCC,” said Pirrotte. “In contrast, our study identified a significant association between tumor ‘splicing burden’ (the extent of aberrant splicing) and clinical response to therapy. These findings suggest that the tumor transcriptome, particularly splicing dysregulation, may provide a more informative framework for predicting treatment response and personalizing therapy.”

Before assessment of AS can be implemented in routine clinical practice, the core technologies will need further refinement, including clinically validated RNA sequencing workflows, robust computational pipelines for splicing analysis, and clear regulatory and technical frameworks for using the results to guide treatment decisions or develop biologic therapies.

Pirrotte and team are now assembling validation cohorts to confirm their findings in larger patient populations. They are also expanding their work to other cancer types to determine whether aberrant splicing and splicing-derived antigens represent broadly applicable biomarkers and therapeutic targets.

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Opinion: Hospitals are silencing doctors online, and it’s fueling the health misinformation crisis

I started creating health content online in medical school. I realized I could reach thousands of people in seconds and share medically accurate information with students around the world. For example, I made a video showing how deep an injection goes for vaccination. The public is both fascinated and afraid of injections, but dispelling the rumors that a massive needle could go as deep as your bone goes a long way in vaccine adoption.

During my emergency medicine residency, though, things changed. What had been seen during my interview process as a strength and skill set became “high risk” overnight. I was told that continuing to post on social media could jeopardize my career.

Read the rest…

Rate of New Late-Stage Breast Cancers Increases

The incidence of stage IV breast cancer increased significantly overall, across ages, and for both sexes from 2010 through 2021, according to research from a Dana Farber-led team. The percentage of patients with stage IV breast cancers, versus those with stages I to III diagnoses also increased. 

Notably, this increase was seen for all tumor subtypes in both sexes.

The researchers write, “These findings suggest that efforts are needed to determine factors contributing to these increases and to identify breast cancer before patients present with de novo stage IV disease.”

The study appears this week (May 12 issue) in JAMA Network Open. The senior author is José P. Leone, MD, department of medical oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston.

In their analysis of data from over 700,000 U.S. patients, the incidence of stage IV breast cancer increased significantly by 1.2% per year, and the percentage of people with stage IV also increased significantly. Stage IV incidence increased widely across all ages, races, sexes, and tumor subtypes. Still, survival improved significantly from 2010 through 2021.

Stage IV incidence increased across all tumor subtypes in both sexes. In women, those subtypes include hormone receptor (HR)–positive/ERBB2-negative, HR-positive/ERBB2-positive, HR-negative/ERBB2-positive, and triple-negative disease. 

Trends in the incidence of de novo stage IV breast cancer “remain underreported,” these authors write. A previous study evaluating incidence of distant disease in the U.S. before 2010 showed a statistically significant increase in incidence for younger patients and a statistically significant decrease in older patients. But, this current study’s authors said, a meta-analysis reported a decreasing percentage of stage IV presentation over time.

Breast cancer is the second most common cancer in women, behind skin cancer. It is the most common cancer diagnosed in females worldwide and an estimated 30% of patients develop metastases. The American Cancer Society estimates 42,140 U.S. women will die from breast cancer in 2026.

The incidence of breast cancer in younger women, in particular, has been rising. In August 2025, the CDC reported that: “Most breast cancers occur in older women, but rates have been increasing slowly among women younger than 45 years in all racial and ethnic groups.” The agency added that survival from breast cancer is improving “among women in most racial and ethnic groups.” 

Breast cancer in men remains rare, but  the rate is increasing also. 

This population-based cohort study used data from the Surveillance, Epidemiology, and End Results (SEER) program to identify patients diagnosed with de novo invasive breast cancer between January 1, 2010, and December 31, 2021. Data analyses were conducted from January 2024 to June 2025.

Of 761,471 breast cancer diagnoses, 43,934 (5.8%) were stage IV. Stage IV incidence increased from 9.5 cases per 100,000 females in 2010 to 11.2 cases per 100,000 females in 2021. The incidence of stages I to III disease also increased, from 163 cases per 100,000 females in 2010 to 177.4 cases per 100,000 females in 2021. 

Among males, there was also a statistically significant increase in stage IV incidence.

The researchers noted that, “Although overall survival improved, research is warranted to determine factors contributing to increased incidence, including potential changes in natural history of breast cancer, disease screening, and incidence and mortality of other conditions.”

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Machine Learning for Comparative Antidepressant Selection in Major Depressive Disorder: Systematic Review

Background: Major depressive disorder (MDD) affects approximately 1 in 6 adults during their lifetime, yet antidepressant selection relies predominantly on trial-and-error, with response rates of only 42% to 53%. While machine learning (ML) models have shown promise in predicting treatment outcomes, most focus on single treatments rather than comparative selection across therapeutic alternatives, limiting their clinical utility for the medication choice decisions that clinicians face in practice. Objective: This systematic review evaluates ML approaches that examine 2 or more pharmacological interventions for predicting treatment outcomes in MDD, with a focus on their capacity to facilitate comparative treatment selection between medications or medication classes for individual patients. Methods: Following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, we searched PubMed, Scopus, and Web of Science for studies published from 2015 to 2025. We included studies involving adults with MDD that used ML models to predict treatment outcomes across 2 or more pharmacological treatments and reported medication-specific prediction outcomes. Risk of bias was assessed using PROBAST-AI (Prediction Model Risk of Bias Assessment Tool for Artificial Intelligence). We conducted a narrative synthesis organized by modeling strategies, data integration approaches, validation methodologies, and performance patterns. Results: From 5370 initial records, 19 studies met the inclusion criteria, with dataset sample sizes ranging from 49 to 77,226 participants. Studies employed 3 distinct modeling strategies: drug-specific supervised models trained independently for each medication, subtype- or trajectory-based approaches using clustering methods to identify differential response patterns, and a unified differential prediction framework generating calibrated cross-treatment predictions. Performance varied substantially, with area under the curve values ranging from 0.59 to 0.95 and classification accuracies between 62% and 95.4%, though high performance was concentrated in studies with small samples, high-dimensional neurobiological features, and internal-only validation. Only 7 studies conducted external validation, which generally yielded more conservative performance estimates. Feature informativeness was more consistently associated with performance variation than algorithm complexity. Most studies did not formally distinguish between prognostic features predicting general outcomes and predictive features identifying differential medication responses, and none applied formal explainability techniques. Conclusions: ML for comparative antidepressant selection remains in an early stage of development. Only 1 study implemented a unified framework directly supporting patient-level treatment ranking. Key barriers to clinical translation include insufficient distinction between prognostic and predictive markers, limited cross-trial validation, near-absent calibration reporting, and absent explainability. Future research should prioritize unified comparative frameworks with calibrated predictions, rigorous external validation on diverse cohorts, explicit modeling of heterogeneous treatment effects, and integration of explainability into model development.
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Roles of NRXN1 in neuropsychiatric disorders: from genetic lesion to molecular mechanism

Numerous neuropsychiatric disorders frequently exhibit overlapping genetic risk factors, implying the molecular basis for their comorbidity. Nevertheless, the pathogenesis of these disorders remains elusive, particularly regarding how genetic variations impair the physiological function of risk genes and contribute to disease phenotypes. Neurexin 1 protein, encoded by NRXN1 gene, belongs to the neurexin family of presynaptic adhesion molecules. And neurexin 1 is involved in synaptogenesis and the maintenance of synaptic action. Genetic variations of NRXN1 have been demonstrated to be associated with a spectrum of neuropsychiatric disorders. Herein, this review focuses on the most recent and relevant literature concerning the genetic and molecular mechanisms through which NRXN1 variants contribute to the pathogenesis of neuropsychiatric disorders, particularly schizophrenia and autism spectrum disorder. Among them, we propose the isoform-dependent excitation-inhibition imbalance hypothesis of NRXN1 in autism spectrum disorder. And this hypothesis may account for both the elevated and decreased excitation-inhibition ratios observed in diverse individuals with autism spectrum disorder. Moreover, both schizophrenia and autism spectrum disorder involve deletions and alternative splicing of NRXN1, offering molecular evidence for their comorbidity. Then, we analyzed and summarized the current research status of NRXN1 in other neuropsychiatric disorders, including attention-deficit hyperactivity disorder, insomnia, epilepsy, suicide, and depression. Additionally, available limited researches on NRXN1-targeted therapeutic strategies and associated pharmacological studies are also incorporated. Finally, we discussed existing challenges in NRXN1 research within the context of neuropsychiatric disorders and proposed potential avenues to overcome these obstacles.

Direct modulation of human GABA-A α1β2γ2 receptors by the endocannabinoid 2-arachidonoylglycerol: implications for cannabinoid-related ligands and limitations for anxiolytic drug development

Anxiety disorders are associated with impaired inhibitory neurotransmission mediated by γ-aminobutyric acid type A (GABA-A) receptors. Although benzodiazepines remain effective anxiolytics, their clinical utility is limited by sedation, cognitive impairment, tolerance, and dependence, prompting the search for mechanistically distinct GABAergic modulators. Among cannabinoid-related molecules, the strongest evidence for direct GABA-A receptor modulation concerns the endocannabinoid 2-arachidonoylglycerol (2-AG), which potentiates recombinant human α1β2γ2 receptors through residues located in the M4 helix of the β2 subunit. Here, we review the structural architecture, biophysical properties, and pharmacological profile of the human GABA-A α1β2γ2 isoform as the relevant molecular framework for evaluating this mechanism, while discussing the broader relevance of cannabinoid-related ligands and selected phytocannabinoids without assuming mechanistic equivalence. We further assess the hypothesis that 2-AG reaches the β2-M4 site through a membrane-access route and identify five conceptual barriers that currently limit translation of this mechanism into anxiolytic drug development: supraphysiological effective concentrations, unresolved synaptic-versus-extrasynaptic actions, uncertain subtype selectivity, incomplete validation of lipid-environment effects, and lack of clinical evidence linking this mechanism to anxiolysis in humans. We conclude that direct modulation through β2-M4 defines a mechanistically intriguing allosteric pathway distinct from benzodiazepine action; however, its location on a shared β2 subunit and the micromolar concentrations required for modulation represent substantial obstacles to the rational design of anxioselective agents based on this mechanism.