International Journal of Medical Students (IJMS)
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Diabetic Striatopathy: A Forgotten Diagnosis in Clinical Neurology
Full text linkBackground: Diabetic striatopathy primarily affects individuals with type 2 DM, often controlled, and is more common in females from Asian regions; cases have been reported across diverse populations.1,2 The incidence is approximately 1/100,000.3 Biopsy of the striatum shows vasculopathy with reactive gliosis. Diabetic striatopathy, a rare complication of Diabetes Mellitus (DM), presents a clinical challenge due to its variable manifestations. It is primarily characterized by abnormal involuntary movements, such as chorea or ballismus, which may affect limbs and, as in our case, the oromandibular region.4 This atypical presentation highlights the need to include diabetic striatopathy in the differential diagnosis of unexplained movements in patients with diabetes.
The Case A 73-year-old man presented to the emergency department with a 15-day history of involuntary movements involving his left leg and oromandibular region. The symptoms began with mild pain, followed by irregular jaw movements and later choreiform movements of the left leg. He had recently been diagnosed with type 2 diabetes and was on metformin, glyburide, and sitagliptin, with no family history of movement disorders, prior head or neck injuries, or fever. On examination, he was alert, oriented, and hemodynamically stable, with no focal neurological deficits. Laboratory evaluation revealed fasting glucose of 132 mg%, postprandial 148 mg%, HbA1c 7.3%, mild anemia, and elevated thyroid function (0.3 µIU/mL); renal and liver function tests were normal. Initial suspicion of right basal ganglia or subthalamic stroke was revised after MRI revealed right putaminal hyperintensity with preservation of the internal capsule (Figure 1). Endocrinology consultation and anti-chorea therapy with tetrabenazine and clonazepam led to complete resolution, and the patient remained well on follow-up while continuing oral hypoglycemic therapy.
Conclusions: The pathophysiology remains incompletely understood. Evidence suggests a link between hyperglycemia and vascular changes in the striatum, with biopsy showing vasculopathy and reactive gliosis.1,5 These hyperglycemia-induced microangiopathic changes parallel those seen in diabetic retinopathy.6,7 Further research is required to elucidate the molecular mechanisms connecting striatal vasculopathy to abnormal movements. Diagnosis relies on hyperglycemia history, chorea or ballismus, and characteristic imaging findings, such as striatal hyperdensity on CT or T1 hyperintensity on MRI, with preservation of the internal capsule distinguishing it from stroke.8 Management focuses on glycemic control and symptomatic treatment with anti-chorea agents like tetrabenazine and clonazepam, which resulted in resolution in our patient. Prognosis is generally favorable, with clinical and radiologic improvement after controlling hyperglycemia.9 Despite increasing recognition, research gaps persist regarding pathophysiology, clinical variability, and optimal management strategies.10 Documenting and sharing cases, particularly from resource-limited regions, will enhance understanding and guide clinical care
Exploring Careers in Healthcare & Onward (ECHO): A Community Outreach Program to Promote Healthcare Career Interest in K-8 Students Surrounding the CU Anschutz Medical Campus
Full text linkBackground: Early exploration can strongly influence children’s career development. Past research suggests that children of low socioeconomic status (SES) have a relative lack of exposure to the healthcare environment, which has been adversely associated with healthcare career interest. Many have examined the importance of promoting early interest in healthcare careers, particularly as a strategy to address shortages of healthcare professionals practicing in low socioeconomic areas. While most research examines career interventions in teenage adolescents, there is a relative lack of such interventions geared towards the elementary and middle-aged population. Our community outreach program is designed to introduce basic physiological concepts and explore careers in healthcare through hands-on experiments. The aim is to increase exposure and interest in healthcare careers in elementary- and middle-aged students.
Methods: From December 2024 to October 2025, ECHO organized four career fairs at libraries and elementary schools in Aurora County. Participants were recruited through advertising at partnering schools and libraries, most of which have a large population of students who qualify for free or reduced-price lunches. The event offered four activities: “Build Your Own Stethoscope” (Cardiology), “Learn About Lungs” (Pulmonology), “Make a Surgeon’s Bracelet” (Surgery), and “All About Reflexes” (Neurology). Each activity was led by 2-4 volunteer medical students or physicians from the CU Anschutz medical campus. Following completion of the fair, participants completed anonymous post-event surveys that evaluated interest in the activities offered and medical professions before and after the career fair.
Results: Between December 2024 and October 2025, 71 elementary and middle school students participated and completed post-event surveys at three ECHO career fairs. There was a 175% increase in “Yes” responses to the question “I am interested in a career where I grow up to be a doctor” following the event. This increase in reported healthcare career interest was statistically significant (p=0.0045). Relative popularity of activities followed the same pattern as reported interest in specific careers in medicine, with the surgery activity and profession being the most popular activity table and career, followed by cardiology, neurology, and pulmonology. The most frequently cited reason for why a favorite activity was chosen was “The activity was the most fun.”
Conclusions: Our post-survey results demonstrate a significant increase in healthcare career interest following completion of the ECHO career fair curriculum. By offering opportunities for students surrounding the CU Anschutz medical campus to engage in healthcare career-oriented learning experiences, ECHO can empower youth to pursue careers in healthcare in their professional futures
Giant Left Diaphragmatic Hernia Complicated With Intrathoracic Gastric Volvulus and Total Gastric Necrosis: An Uncommon Case Report
Full text linkBackground: Diaphragmatic hernia in adults is an uncommon but potentially fatal condition. Diagnosis is often delayed because of nonspecific symptoms, predisposing patients to severe complications. Among these, intrathoracic gastric volvulus with necrosis is one of the most catastrophic, carrying a high risk of septic shock, multiorgan failure, and postoperative mortality exceeding 30–50% in critical settings. This case is notable for the size of the hernia, the extent of gastric necrosis, and the complexity of reconstruction required, while also underscoring the need for access to specialized critical care.
The Case: A 66-year-old male with cirrhosis, hypertension, and diabetes presented in extremis with severe abdominal pain, distension, and acute dyspnea progressing to refractory shock. He required mechanical ventilation and vasopressor support. Examination revealed abdominal distension, tracheal deviation, and absent left breath sounds. Chest radiography showed a massively distended stomach in the left hemithorax, with mediastinal shift and contralateral lung collapse. Emergency laparotomy demonstrated a 10 × 5 cm diaphragmatic defect containing a volvulated stomach with complete necrosis. Procedures included adhesiolysis, hernia reduction, diaphragmatic repair, total gastrectomy, and Roux-en-Y reconstruction with esophagojejunal and jejunojejunal anastomoses. A left chest tube and drains were placed. The surgery lasted nine hours with blood loss of 1500 mL. Postoperatively, the patient remained critically ill with hypovolemic and septic shock requiring dual vasopressors and ventilatory support.
Conclusion: Giant diaphragmatic hernia with intrathoracic gastric volvulus and total gastric necrosis is an exceptional, life-threatening condition. Successful management requires rapid diagnosis, immediate surgical intervention, multidisciplinary collaboration, and advanced critical care infrastructure
Avoiding Pacemaker: Resolution of Sinus Node Dysfunction through CPAP Therapy
Full text linkyet underdiagnosed sleep-related breathing disorder with significant cardiovascular implications. Besides hypertension, heart failure, and ischemic disease, SAHS has been increasingly associated with arrhythmias and conduction abnormalities. Sinus node dysfunction (SND) is among the rhythm disturbances most frequently reported, with clinical manifestations ranging from bradycardia to prolonged sinus pauses. The pathophysiology involves recurrent nocturnal hypoxemia, sympathetic-vagal imbalance, and intrathoracic pressure fluctuations, which together promote electrical instability. Traditionally, pacemaker implantation has been considered the treatment of choice for symptomatic or severe SND. However, growing evidence suggests that adequate management of SAHS with continuous positive airway pressure (CPAP) may reverse rhythm disorders, highlighting the importance of identifying reversible causes before committing to invasive procedures.
The Case: We report the case of a 34-year-old man with morbid obesity (BMI 43.6) and no cardiovascular history, who presented with severe daytime sleepiness (Epworth score 17). Physical examination
was unremarkable, with no structural heart disease. Baseline electrocardiogram showed sinus bradycardia at 56 bpm. Holter monitoring revealed sinus node dysfunction with nocturnal pauses up to 6.8 seconds. Based on these findings, dual-chamber pacemaker implantation was initially considered. Simultaneous overnight polysomnography confirmed severe SAHS, with an apnea-hypopnea index (AHI) of 70 events/hour, oxygen desaturation index of 52/hour, and a nadir oxygen saturation of 56%. Given the temporal overlap between apneic events and sinus pauses, an alternative strategy was pursued. The patient was started on CPAP therapy and received weight loss counseling.
At one-month follow-up, he reported complete resolution of daytime symptoms. Repeat polysomnography demonstrated significant improvement, with AHI reduced to 38/hour, desaturation index to 19/hour, and minimum O₂ saturation improved to 70%. Holter monitoring confirmed normalization of sinus rhythm, with a mean heart rate of 68 bpm and no further pauses. Pacemaker implantation was therefore avoided.
Conclusion: This case highlights the complete reversibility of sinus node dysfunction after treatment of severe SAHS with CPAP therapy. It underscores the need to systematically consider sleep-disordered breathing in patients with unexplained bradyarrhythmias, particularly in younger individuals without cardiac comorbidities. Identifying SAHS as an underlying cause may dramatically alter the therapeutic strategy, preventing unnecessary device implantation and its long-term complications. Beyond improving quality of life, CPAP should be recognized as a potential disease-modifying therapy for rhythm disturbances. Early screening, accurate diagnosis, and prompt initiation of noninvasive ventilation may represent a decisive step in redefining the management of SND in the context of sleep apnea
Using pretreatment MRI perfusion to inform subsequent MRI perfusion
Full text linkPurpose: Patients with brain metastases frequently require stereotactic radiosurgery (SRS), which offers effective local control while avoiding the neurocognitive toxicities of whole brain radiation therapy. Increasing enhancing lesions after SRS may represent recurrent metastasis or radiation necrosis. MR perfusion is commonly used to distinguish between these entities, with recent meta-analyses showing good correlations between hyperperfusion and recurrent metastasis. However, some metastases do not show hyperperfusion before SRS due to innate tumor properties rather than technical limitations. We hypothesize that pretreatment MR perfusion can improve perfusion interpretation at suspected progression, where absent hyperperfusion before treatment suggests perfusion is an unreliable marker for recurrent metastasis.
Materials and Methods : We retrospectively reviewed patients with systemic cancers and brain metastases who underwent SRS, had MR perfusion scans ≤30 days before SRS, and later developed suspected progression (>30 days post-SRS) with repeat MR perfusion ≤30 days before surgical resection. Histopathology served as the reference standard for determining recurrent metastasis versus necrosis. One metastasis was evaluated per patient. We analyzed dynamic contrast enhanced T1-weighted MR perfusion images with automated arterial input function to calculate Ktrans maps (transfer constant coefficient) and VP maps (plasma volume). The entire enhancing lesion was segmented using a semi-automated tool, propagated onto Ktrans and VP maps, and used to calculate normalized ratios (rKtrans, rVP). Absent hyperperfusion was defined as ratio <1.5. Statistical analysis used t-test where p=0.05.
Results: Initial perfusion results before SRS across the entire cohort showed median rKtrans=1.7 (range: 0.20-29.56) and median rVP=2.1 (range: 0.275-7.536). Median metastasis size was 3.0 cc (range: 0.369-10.431). We identified 22 patients with growing enhancing lesions and repeat perfusion a mean 283.7 days after SRS. Histopathology showed 14 (64%) recurrent tumors and 8 (36%) necrosis. Recurrent metastases showed median rKtrans=7.4 (range: 0.58-221.13) and median rVP=3.1 (range: 0.48-6.10), while necrosis showed lower median rKtrans=1.6 (range: 0.18-198.47) and median rVP=0.9 (range: 0-6.40), p=0.08.
Among recurrent metastases without hyperperfusion (ratio <1.5) at repeat imaging (n=6), pre-SRS perfusion showed rKtrans=10.38 (range: 0.35-15.27) and rVP=2.81 (range: 0.71-5.22). The remaining recurrent metastases (ratio ≥1.5) showed pre-SRS rKtrans=6.17 (range: 0.49-13.04) and rVP=3.94 (range: 0.20-29.56).
Conclusion: Our results confirmed MR perfusion utility in distinguishing recurrent metastasis from necrosis. Incorporating pre-SRS perfusion improved correlations and offers a novel approach for better informed management. Absent hyperperfusion in growing lesions that lacked hyperperfusion before treatment should be considered unreliable. Further patient incorporation and analysis are ongoing.
Table 1: Initial Results Suggest Utility of MR Perfusion to Distinguish Between Recurrent Metastasis and Necrosis in Treated Patients.
Pre-SRS MRI
Ratios
Entire Cohort
Non-hyperperfused (ratio <1.5)
rKtrans
range
1.7
(0.2-29.6)
0.4
(0.4-0.5)
rVP
range
2.1
(0.4-7.5)
0.7
(0.2-1.5)
Myeloid-Derived Suppressor Cells in HIV: A Marker Beyond CD4 Count?
Full text linkBackground: HIV infection causes profound immune dysregulation, primarily through CD4⁺ T lymphocyte depletion and persistent immune activation. Myeloid-derived suppressor cells (MDSCs) have recently been recognized as key immunoregulatory cells. They represent a heterogeneous population of immature myeloid cells with strong capacity to suppress T cell proliferation and cytokine production, often mediated via PD-L1 expression and arginase activity. While their role has been described in cancer and other chronic infections, their contribution to HIV pathogenesis, clinical manifestations, and therapy response remains insufficiently defined.
Aim: The aim of this study was to investigate the role of MDSCs and PD-L1 expression in HIV-positive patients, in relation to clinical symptoms, CD4⁺ T cell count, and type of antiretroviral therapy (ART).
Methods: Peripheral blood samples from 41 HIV-positive patients and 10 healthy controls were collected. Flow cytometry was performed to quantify MDSCs (absolute counts and percentage of CD45⁺ cells), PD-L1 expression on MDSCs, and CD4⁺ T cell counts. Patients were stratified by clinical status (symptomatic vs. asymptomatic), CD4⁺ stage (<200/µl, 200–500/µl, >500/µl), and ART regimen (PI+NRTI, PI+NNRTI, NRTI+NNRTI, or no therapy). Statistical analysis was carried out using IBM SPSS v26. Normality of data was evaluated with the Shapiro–Wilk test. Depending on distribution, comparisons were made using t-test, ANOVA, Mann–Whitney U, or Kruskal–Wallis test. Correlations between continuous variables were assessed using Spearman’s rho.
Results: MDSC percentages were significantly higher in HIV patients compared to healthy controls (p = 0.007). Within the HIV group, symptomatic patients showed elevated MDSC levels (p = 0.045) and lower CD4⁺ counts (p = 0.032) than asymptomatic individuals. Stratification by CD4⁺ stage revealed a trend toward increasing MDSC percentages with advancing disease, though this did not reach significance (p = 0.077). No differences were observed between ART regimens in relation to MDSCs, CD4⁺ counts, or PD-L1 expression (all p > 0.5). Moreover, PD-L1 expression on MDSCs did not correlate with CD4⁺ counts or MDSC percentages (p > 0.1).
Conclusion: Elevated MDSC levels distinguished HIV patients from healthy controls and were further increased in symptomatic cases, suggesting a contribution to clinical manifestations of immune imbalance. Although PD-L1 expression did not correlate with disease stage or therapy type, MDSCs provide insights beyond CD4⁺ counts in assessing immune status. These findings highlight the potential of MDSCs as early immunosuppressive markers in HIV. Larger studies incorporating functional assays are warranted to validate their diagnostic and therapeutic relevance and to explore whether therapeutic modulation of MDSCs could open new avenues in the management of chronic HIV infection
Ochratoxin A and Citrinin Contamination in Rice, Oats and Wheat Flour in Michoacán, Mexico: an External Biomonitoring Study
Full text linkBackground: Ochratoxin A (OTA) and citrinin (CIT) are classified as nephrotoxic mycotoxins, compounds naturally produced by some saprophytic filamentous fungi of the Aspergillus and Penicillium genera. These two mycotoxins are of particular concern because of both their ability to contaminate a vast spectrum of foods and their thermal stability of up to 250º C, thus representing a concrete threat for human health. Progressive decline in kidney function, chronic kidney disease, interstitial nephritis and Balkan Endemic Nephropathy are listed as long-term health risks.
Aim: Since Mexico does not have regulations on OTA and CIT contamination limits in food, an external biomonitoring study is needed. The main objective of this study is to determine whether and to which extent selected food matrices are contaminated with ochratoxin A and citrinin.
Methods: Commercial rice, oats and wheat flour, purchased from large-scale retail stores in Morelia (Michoacán), were selected as food matrices. In order to assess mycotoxins’ concentration, extracts of these cereals were needed. The process of extraction began by finely grinding and sieving the cereals until a homogeneous powder was obtained. Three replicates of each cereal were prepared by mixing 20 grams of powder with 100 mL of 80% acetonitrile. To optimize extraction, samples were placed on a rotatory magnetic plate for 15 minutes, centrifuged at 1980 g for 5 minutes. The supernatant was then collected, concentrated by rotary evaporation, and stored at 4°C until analysis. For detection, sensitive and highly specific techniques were applied: thin-layer chromatography (TLC) and enzyme-linked immunosorbent assay (ELISA). TLC was employed for qualitative analysis, while ELISA was used for quantitative analysis.
Results:TLC results showed considerable ochratoxin A and citrinin contamination in all the analyzed samples (rice, oats and wheat flour), as well as potential occurrence of other toxins. Further investigation is needed to assess other mycotoxins’ contamination.
At the time of writing, ELISA has not been performed. Nevertheless, since TLC has already detected the investigated mycotoxins, we are confident about the positive results that ELISA will yield, allowing us to confirm both ochratoxin A and citrinin presence in the samples and to quantify their concentration.
Conclusion: Overall, the experiment revealed ochratoxin A and citrinin contamination in commercial food (rice, oats and wheat flour) from Michoacán, Mexico, through thin-layer chromatography. When conducted, ELISA will provide more data regarding the specific concentrations of each mycotoxin in all the samples analyzed. Further investigation is needed to determine the impact of mycotoxins’ exposure to humans. Moreover, a biomonitoring external study for other contaminating mycotoxins should be conducted.
Kratom Khaos: Tracing the Medical and Societal Toll of Kratom Use in Kentucky
Full text linkBackground: Kratom, derived from a tree species native to Southeast Asia and used in traditional medicine, is gaining popularity within the United States. While at low doses it is intended for stimulant use, higher doses of kratom can achieve analgesic effects similar to opiates. It’s use and misuse continues to be an area of interest given its unregulated status and propensity for addiction and abuse. Here we present four cases of kratom abuse observed in the inpatient and outpatient settings in southcentral Kentucky.
The Case: First, 20-year-old female with medical history of anxiety and major depressive disorder presented to the emergency department due to symptoms of restlessness, body aches, chills, nausea, palpitations and loose stools. Patient revealed she has been taking 7-8 kratom tablets daily and had attempted immediate cessation but relapsed due to her symptoms. In clinic follow up, she was started on Atarax and methyl salicylate patches for symptom control and is currently in process of tapering off Kratom. Next, 49-year-old male with history of hypertension, chronic kidney disease, hyperlipidemia, and chronic pain presented to clinic with recurrent hypertensive episodes. He disclosed chronic use of kratom following MVC 5 years prior, currently taking 10 g every 4-5 hours. With a desire to cut back, the patient and his physician through shared-decision making created a tapering plan. With a slow taper, he has not reported any withdrawal symptoms. As his kratom use trends down, he will be referred to pain management specialist for chronic pain. Additionally, 18-year-old male with no significant medical history was brought to the ED being found unresponsive and foaming at the mouth. He was tachypneic, tachycardic, and hypotensive with a mildly elevated troponin. After receiving Narcan and IV fluids, the patient became responsive. Patient disclosed he was taking two 50 mg packages of kratom alongside marijuana and alcohol for recreation. After returning to baseline, the patient was discharged with close outpatient follow up. Lastly, 38-year-old female with medical history of anxiety/depression, seizures, and thyroidectomy complicated by vocal cord dysfunction presented to the ED after being found minimally responsive by family. Family explained the patient took up to 60 kratom tablets daily and she was found to have urine mitragynine level > 2500. Patient initially displayed nonsensical speech, paranoia, and hallucinations, but progressed to hypersomnolence with subsequent seizure and catatonia necessitating ICU admission. Ultimately transferred to tertiary center for benzodiazepine challenge and possible ECT.
Conclusion: Presently, the United States does not regulate the manufacturing or distribution of kratom. In fact, very little is known about the long-term effects safety profile. Due to the demonstrated potential for abuse and harm, six states have made the drug illegal. From our patient interactions, the common theme is one of surreptitious addiction, monetary strain, and little understanding of the risks inherent to what was marketed as a natural supplement. Further research is warranted appropriately counsel our patients to the potential dangers recreational kratom use poses and improve the understanding the medical and socioeconomic impact of its wide availability
Atypical presentation of a hypopharyngeal leiomyoma: Case Report
Full text linkLeiomyomas are benign tumors of smooth muscle origin, most frequently located in the uterus and gastrointestinal tract. Their presence in the hypopharynx is extremely rare due to the limited amount of smooth muscle in this region, and clinical manifestations are often nonspecific, including dysphagia, globus sensation, and pharyngeal discomfort, which may mimic malignant disease. We report the case of a 63-year-old male with a history of gastroesophageal reflux disease (GERD) and Barrett’s esophagus who presented with a one-year history of dyspepsia, globus sensation, and progressive dysphagia. Endoscopic evaluation revealed a small lesion on the posterior hypopharyngeal wall, further confirmed by contrast-enhanced computed tomography as a 7 × 6 × 4 mm homogeneous, hypervascular, pedunculated mass without cervical lymphadenopathy. The patient underwent endoscopic cold-cut resection, which led to complete symptom resolution. Histopathological analysis demonstrated a well-circumscribed neoplasm composed of spindle-shaped cells arranged in fascicles, with no atypia, necrosis, or abnormal mitoses. Immunohistochemistry revealed diffuse positivity for smooth muscle actin, confirming the diagnosis of hypopharyngeal leiomyoma. The postoperative course was uneventful, with continued GERD management. This case illustrates an exceptionally rare benign tumor of the hypopharynx, emphasizing the importance of including such entities in the differential diagnosis of patients with nonspecific pharyngeal symptoms. Accurate diagnosis requires thorough endoscopic and radiological evaluation combined with histopathological confirmation. Complete surgical excision remains curative, providing excellent prognosis with minimal risk of recurrence. This report contributes to the limited literature on hypopharyngeal leiomyomas and highlights the value of a multidisciplinary approach in their management
Survival Factors in Lung Cancer Patients with Mutations in the PROS1, SERPINC1, F2, and F5 Genes
Full text linkBackground: Lung cancer remains a leading cause of cancer mortality globally, with poor 5-year survival rates largely due to late-stage detection. Small cell lung cancer (SCLC) and non-small cell lung cancer (NSCLC) are distinguished by distinct growth patterns, metastatic potential, and genetic profiles. Genetic markers in coagulation pathways, including F2, F5, PROS1, and SERPINC1, are implicated in tumor progression, metastasis, and hypercoagulable states. This study investigates the association of these gene mutations with clinical outcomes, tumor location, stage, and demographic factors in lung cancer patients.
Aim: The objective of this study was to characterize the prognostic significance of F2, F5, PROS1, and SERPINC1 mutations in lung cancer by analyzing clinical outcomes and survival patterns. Using TCGA-LUAD and TCGA-LUSC cohorts, we assessed how these mutations interact with patient age, race, tumor laterality, anatomic site, stage, and treatment strategies. The overarching aim was to determine whether thrombophilia mutations represent independent factors influencing survival and to explore their potential role in guiding personalized therapy.
Methods: Primary lung cancer patients with mutations in F2, F5, PROS1, or SERPINC1 were identified from TCGA-LUAD and TCGA-LUSC datasets. STAR RNA gene expression quantification was obtained for each gene. Patients were divided into mutation (n = 569) and comparison (n = 850) groups. Univariate and multivariate Cox proportional hazards analyses were conducted to evaluate associations between overall survival and patient age, race, AJCC pathologic stage, tumor primary site, laterality, and treatment type (chemotherapy, ancillary, immunotherapy, pleurodesis, radiation, targeted therapy). Hazard ratios (HR) with 95% confidence intervals (CI) were calculated.
Results: Across all mutations, higher pathologic stage and right-sided tumor location were consistently associated with worse survival. F5 mutations were significantly associated with improved outcomes in middle lobe (HR = 1.49, 95% CI [1.04–2.13], p = 0.028), pleura (HR = 1.33, 95% CI [1.08–1.64], p = 0.006), and upper lobe tumors (HR = 1.20, 95% CI [1.02–1.41], p = 0.025). PROS1 and SERPINC1 mutations conferred survival benefit in upper lobe tumors. In upper lobe cancers, African American patients harboring F5 mutations exhibited significantly worse survival (age at diagnosis HR = 1.01, 95% CI [1.00–1.02], p = 0.015; race HR = 1.33, 95% CI [1.04–1.71], p = 0.024). Gene counts were significant in the comparison group but not in mutation groups, potentially reflecting the averaging of gain- and loss-of-function mutations.
Conclusion: Thrombophilia-associated mutations in F2, F5, PROS1, and SERPINC1 influence lung cancer survival outcomes in a site- and demography-specific manner. Higher pathologic stage consistently predicts worse outcomes. F5 mutations confer protective effects in middle lobe, pleura, and upper lobe tumors, while PROS1 and SERPINC1 mutations are protective in upper lobe tumors. Notably, African American patients with F5 mutations experience reduced survival, and right-sided tumors harboring F2, F5, PROS1, or SERPINC1 mutations are associated with worse outcomes. These findings underscore the importance of considering thrombophilia gene status in prognostication and support the development of targeted therapies aimed at optimizing survival in lung cancer patient