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Circulating tumor DNA (ctDNA) has emerged as a promising tool for various clinical applications, including early diagnosis, therapeutic target identification, treatment response monitoring, prognosis evaluation, and minimal residual disease detection. Consequently, ctDNA assays have been incorporated into clinical practice. In this review, we offer an indepth exploration of the clinical implementation of ctDNA assays. Notably, we examined existing evidence related to pre-analytical procedures, analytical components in current technologies, and result interpretation and reporting processes. The primary objective of this guidelines is to provide recommendations for the clinical utilization of ctDNA assays.
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Acrodermatitis continua of Hallopeau (ACH) is a rare type of pustular psoriasis that causes periungual sterile pustules, paronychia, onychodystrophy, osteolysis, and atrophic skin. This condition is known for being resistant to conventional anti-psoriatic treatments. Therefore, biologics have been explored as potential management options for ACH. A 48-year-old male presented with erythematous swelling, pustular eruptions, desquamation, and nail dystrophy on his left third fingertip for a year. Despite various anti-psoriatic treatments, including 308 nm excimer laser, oral cyclosporine, acitretin, and methotrexate, the symptoms persisted. After 9 years of experiencing this condition, the patient was started on guselkumab (an interleukin-23 inhibitor), and showed significant improvement after eight injections. The patient was in good health without any adverse effects. This case report highlights the potential effectiveness of guselkumab in the treatment of refractory ACH.
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A 54-year-old man presented to our outpatient clinic with generalized pruritic millet-sized vesicles, pustules, and crusts on the whole body over the past 10 years, which were more dominant in the lower extremities. Due to the difficulty in diagnosis, a series of histopathologic examinations were conducted during the treatment course, and the findings were similar: subcorneal pustules with neutrophils, superficial perivascular and dermal infiltration of lymphocytes, neutrophils, and eosinophils, with no sign of acantholysis. The patient was treated with cyclosporine, prednisolone, doxycycline, colchicine, sulfasalazine, and acitretin; however, his condition did not improve. After showing a dramatic improvement with dapsone, he was finally diagnosed with subcorneal pustular dermatosis (SPD).Various medications commonly used in inflammatory and immunobullous skin diseases were tried but failed to improve the condition; the patient showed a dramatic response only to dapsone. Due to its rarity, careful attention and repeated biopsies are required for diagnosing SPD.
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Background@#Primary cicatricial alopecia (PCA) is a rare disease that causes irreversible destruction of hair follicles and affects the quality of life (QOL). @*Objective@#We aimed to investigate the disease awareness, medical use behavior, QOL, and real-world diagnosis and treatment status of patients with PCA. @*Methods@#A self-administered questionnaire was administered to patients with PCA and their dermatologists. Patients aged between 19 and 75 years who visited one of 27 dermatology departments between September 2021 and September 2022 were included. @*Results@#In total, 274 patients were included. The male-to-female ratio was 1:1.47, with a mean age of 45.7 years. Patients with neutrophilic and mixed PCA were predominantly male and younger than those with lymphocytic PCA. Among patients with lymphocytic PCA, lichen planopilaris was the most common type, and among those with neutrophilic PCA, folliculitis decalvans was the most common type. Among the total patients, 28.8% were previously diagnosed with PCA, 47.0% were diagnosed with PCA at least 6 months after their first hospital visit, 20.0% received early treatment within 3 months of disease onset, and 54.4% received steady treatment. More than half of the patients had a moderate to severe impairment in QOL. Topical/intralesional steroid injections were the most common treatment. Systemic immunosuppressants were frequently prescribed to patients with lymphocytic PCA, and antibiotics were mostly prescribed to patients with neutrophilic PCA. @*Conclusion@#This study provides information on the disease awareness, medical use behavior, QOL, diagnosis, and treatment status of Korean patients with PCA. This can help dermatologists educate patients with PCA to understand the necessity for early diagnosis and steady treatment.
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Purpose@#Previous studies have suggested that serum phosphate concentration is a prognostic factor in critically ill patients. However, the association between changes in serum phosphate levels and prognosis of patients with trauma remains unclear. @*Materials and Methods@#This study included patients with severe trauma who were treated at the emergency department. Delta phosphate (Δ phosphate) was defined as the difference between serum phosphate concentrations measured at baseline and after 24 hours from the initial measurement. Patients were divided into five groups according to their Δ phosphate levels: group I (Δ phosphate <-2 mg/dL), group II (Δ phosphate -2 to -0.5 mg/dL), group III (Δ phosphate -0.5 to 0.5 mg/dL), group IV (Δ phosphate 0.5 to 2 mg/dL), and group V (Δ phosphate ≥2 mg/dL). @*Results@#Overall, 1905 patients with severe trauma were included in the analysis. The 30-day mortality was the lowest in group III and tended to increase in groups with a larger Δ phosphate in both the positive and negative directions (group I: 13.7%, group II:6.8%, group III: 4.6%, group IV: 6.6%, and group V: 26.8%). In multivariable analysis with group III as the reference group, the odds ratios (ORs) of mortality were statistically significant in group IV [OR, 1.92; 95% confidence interval (CI), 1.05–3.56] and group V (OR, 5.28; 95% CI, 2.47–11.24). @*Conclusion@#An increase in serum phosphate concentrations 24 hours after the initial measurement could be considered as an independent prognostic factor in patients with severe trauma.
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Background@#Atopic dermatitis (AD) patients usually wonder if their condition will worsen after vaccination or if they should continue with the treatment they are receiving. Considering that many patients treated with dupilumab had previously experienced severe AD symptoms and flares, the concerns are more understandable. @*Objective@#This study aimed to investigate the safety of the coronavirus disease 2019 (COVID-19) vaccination in patients with AD treated with dupilumab. @*Methods@#We enrolled 133 patients (101 dupilumab-treated and 32 systemic oral agentstreated as control group) with AD from six hospitals. Patients were asked about worsening pruritus and AD (5-point Likert scale) after vaccination. AD variables (eczema area and severity index [EASI], investigator’s global assessment [IGA], itch numerical rating scale [NRS], sleep NRS, and patient-oriented eczema measure [POEM]) were compared pre- and postvaccination. Adverse reactions to the COVID-19 vaccination were observed. @*Results@#The incidence of adverse reactions to COVID-19 vaccines and worsening AD symptoms in dupilumab-treated patients were not significantly different compared with that in the control group. The itch NRS score increased significantly after vaccination (p<0.001).However, there were no statistically significant differences between the pre-and post-EASI, IGA, and POEM scores. Eight patients (7.9%) had worse EASI scores and required rescue therapy; however, most were easily managed with low-dose steroids or topical agents. None of the patients discontinued dupilumab treatment. @*Conclusion@#No serious adverse reactions were observed in patients with AD after COVID-19 vaccination. Exacerbation of pruritus and AD symptoms was observed but was mostly mild and transient.
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Background@#Alopecia areata (AA) is a chronic disease with an unpredictable course and can have a severe psychological impact on an individual. @*Objective@#To provide evidence and consensus-based statements regarding the treatment of patients with AA in Korea. @*Methods@#We searched for relevant studies from inception to May 2021 regarding the systemic treatment of AA. Evidence-based recommendations were also prepared. The evidence for each statement was graded and classified according to the strength of the recommendations. Hair experts from the Korean Hair Research Society (KHRS) voted on the statement, and an agreement of 75% or greater was considered as having reached consensus. @*Results@#Current evidence supports the efficacy of systemic corticosteroids, oral cyclosporine monotherapy or combination with systemic corticosteroids, and oral Janus kinase inhibitors in severe AA patients. Systemic steroids may be considered for pediatric patients with severe AA. A consensus was achieved in three out of nine (33.3%), and one out of three (33.3%) statements pertaining to systemic treatment in adult and pediatric AA, respectively. @*Conclusion@#The present study produced up-to-date, evidence-based treatment guidelines for AA associated with the consensus obtained by experts based on the Korean healthcare system.
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Background@#Alopecia areata (AA) is a chronic disease with an unpredictable disease course and severe psychological impact. @*Objective@#To provide evidence- and consensus-based insights regarding the treatment of patients with AA in Korea. @*Methods@#We searched for relevant studies on the topical and device-based treatment of AA in the literature from inception until May 2021. Evidence-based recommendations were also prepared. The evidence for each statement was graded and classified according to the strength of the recommendations. Hair experts from the Korean Hair Research Society (KHRS) voted on the statements, and an agreement of 75% or greater was considered as consensus. @*Results@#Currently, there remains a scarcity of topical treatments, which is supported by robust evidence from a number of high-quality randomized controlled trials. Current evidence supports the efficacy of topical corticosteroids, corticosteroid intralesional injection, and contact immunotherapy in AA patients. Topical corticosteroids and contact immunotherapy are recommended for pediatric AA. A consensus was achieved in 6 out of 14 (42.8%), and 1 out of 5 (20.0%) statements pertaining to topical and device-based treatments in AA, respectively. The expert consensus was from a single country, and the study may not cover all the treatments used. @*Conclusion@#The present study provides up-to-date, evidence-based treatment guidelines for AA based on the consensus reached among experts after considering regional healthcare circumstances, adding diversity to the previous guidelines.
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Background@#ABO genotyping is performed when the exact ABO blood type cannot be determined through serological testing. Conventionally, only exons 6 and 7 of the ABO gene have been analyzed, but our laboratory introduced additional analysis of the proximal promoter and intron 1 ＋5.8 kb site. Accordingly, we report the clinical use of ABO genotyping and distribution of the ABO subgroups based on our experience over the past 5 years. @*Methods@#A total of 265 samples tested at the Samsung Medical Center from August 2017 to July 2022 were retrospectively analyzed at their request. Serological ABO blood typing and direct sequencing of exons 6 and 7 were performed on all samples, and additional analysis of the regulatory region of the ABO gene was performed on 17 samples. Since some of the ABO discrepant cases revealed multiple causes, a total of 339 causes among 238 ABO discrepant cases were analyzed. @*Results@#Among the total of 265 samples, 89.8% (238/265) exhibited ABO discrepancies. Weak red cell reactivity (51.6%, 175/339) was the most common cause of ABO discrepancy, followed by extra serum reactivity (35.7%, 121/339). Among the samples, 40.8% (108/265) were identified as ABO subgroups. Among the 108 ABO subgroup alleles, cisAB.01 in exons 6 and 7 accounted for 82 cases (75.9%, 82/108), and two g.10925C＞T mutations in intron 1 ＋5.8 kb were identified. @*Conclusion@#Through our recent experience of the last 5 years of ABO genotyping, we elucidated the cause of ABO discrepancies and ABO subgroup alleles. The extended sequencing of the regulatory region of the ABO gene was helpful for further understanding the ABO discrepancy caused by weak red cell reactivity. (Korean J Blood Transfus 2023;34:12-20)
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Background@#Dermatophyte infection is one of the most common skin diseases affecting the skin, hair, and nails. Despite widespread recognition of the disease, missing details and misperceptions are commonplace in the general population. @*Objective@#This study aimed to investigate the public perception and behavior regarding dermatophytosis of the hands and feet. @*Methods@#This results from an online survey conducted between July 2022 and August 2022. The survey included 1,000 Korean participants aged 20 to 69 years, of whom 60% experienced symptoms of tinea pedis or onychomycosis. The questionnaire focused on the awareness and personal experience of tinea pedis and perception of the treatment of dermatophytosis. @*Results@#Of the 1,000 participants, nearly 80% regarded tinea pedis as a common skin condition by which anyone can be affected. Furthermore, 88.4% had heard that the treatment of tinea pedis could be harmful, causing skin rash (60.4%) and worsening liver function (48.5%). Among 896 participants who noticed suspicious symptoms, 81.2% did not visit the clinic because it was not severe (50.1%) and seemed easily manageable (25.7%). Of the respondents, 84.4% preferred to meet dermatologists rather than non-dermatologist doctors regarding skin diseases, mainly because of trust in experts and belief in a faster cure. @*Conclusion@#Providing accurate and detailed information via online media, educational campaigns, and medical papers can rectify misconceptions and improve patient appliance, contributing to public skin health.
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Methotrexate (MTX) is commonly employed in the management of chronic inflammatory skin diseases. We report the case of a 73-year-old man who presented with a persistent cough lasting for 1 month. He had an 11-year history of psoriasis and had received MTX (10.0 mg/wk) over the past 21 months. High-resolution chest computed tomography revealed diffuse ground-glass opacities and bronchiectasis affecting both lung fields. Based on clinical and radiological assessments, the patient was diagnosed with MTX-induced interstitial pneumonia. Notably, significant clinical and radiological improvement was observed 1 month after the discontinuation of MTX and corticosteroid administration. Although some reports have demonstrated lung toxicity in patients receiving high-dose MTX therapy, cases of adverse pulmonary effects following low-dose treatment in patients with psoriasis are rare.This case report underscores the rarity of interstitial pneumonia in a patient with psoriasis undergoing MTX treatment in Korea.
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The Department of Dermatology at Kyungpook National University School of Medicine, initially the Dermatology Department of the Private Daegu Medical Training School in 1924, commemorated its 100th anniversary in 2023.Throughout its rich history, the department has been dedicated to advancing contemporary dermatology and enhancing the well-being of local communities through exceptional research, education, and social contributions.Initially tasked with the diagnosis, treatment, and education of patients with dermatological and urological disorders, the department evolved over time. In 1958, it separated from the Urology Department to focus solely on the diagnosis, research, and education of dermatological disorders. In 1962, Dr. Soon Bong Suh became the inaugural Chief of the Dermatology Department, marking the foundation of the Kyungpook National University School of Medicine’s Dermatology Department. Our legacy of pioneering contributions extends to dermatophytic diseases, which account for a large proportion of skin disorders in Korea, where we have excelled in basic research and treatment. These achievements have played a crucial role in the advancement of dermatophytic diseases.Subsequently, we have demonstrated expertise in blistering diseases and dermatopathology, making substantial contributions to the diagnosis and treatment of refractory skin conditions. Recently, we have been at the forefront of research and interventions for chronic inflammatory skin conditions that cause significant distress in many individuals, including atopic dermatitis and psoriasis. Our influence has also extended to severe and refractory skin disorders, including skin cancer and vascular anomalies. Striving to stay contemporary, our achievements now encompass aesthetics, including acne, pigmentation, and laser treatments. Our accomplishments have garnered widespread recognition nationwide, engendering high expectations for future advancements.
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Cutaneous adverse drug reactions are common and produce easily identifiable clinical symptoms. These may range from mild maculopapular rashes to severe reactions associated with systemic disease.Current Concepts: The most common presentation of a drug eruption is in the form of a maculopapular rash or exanthematous skin eruption, followed by fixed drug eruptions and urticaria. Severe cutaneous adverse drug reactions include Stevens-Johnson syndrome/toxic epidermal necrolysis, acute generalized exanthematous pustulosis, and drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms, which are rare but potentially life-threatening. Recently, it has emerged that cutaneous adverse drug reactions associated with newly developed drugs, such as epidermal growth factor receptor inhibitors, may induce a variety of cutaneous manifestations.Discussion and Conclusion: Although certain drugs, such as antimicrobials and anticonvulsants, can frequently cause drug eruptions, their effects may change, depending on the situation and timing. Therefore, in order to resolve symptoms and prevent complications, early diagnosis, drug identification, and appropriate treatment should be performed, in consideration of the various factors involved.
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Real-time reverse transcription (rRT)-PCR, which is the reference standard for the diagnosis of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, generally involves a time-consuming and costly RNA extraction step prior to amplification. We evaluated the performance of the AdvanSure One-Stop COVID-19 Plus Kit (LG Chem, Seoul, Korea), a novel rRT-PCR assay that can detect SARS-CoV-2 within 90 minutes using a streamlined RNA extraction method. In total, 509 nasopharyngeal swab (NPS) specimens (SARS-CoV-2 positive: N=205; SARS-CoV-2 negative: N=304) previously tested using the PowerChek SARS-CoV-2 Real-time PCR Kit (Kogene Biotech, Seoul, Korea) were tested using the AdvanSure assay. The limit of detection (LOD) of the AdvanSure assay was determined using serially diluted inactivated SARS-CoV-2. The positive and negative percent agreements between the AdvanSure and PowerChek assays were 99.5% (204/205) and 99.3% (302/304), respectively. The LODs of the AdvanSure assay for SARS-CoV-2 nucleocapsid and spike/RNA-dependent RNA polymerase genes were 672 and 846 copies/mL, respectively. The results show that the performance of the AdvanSure assay is comparable to that of the PowerChek assay used for routine SARS-CoV-2 testing, suggesting that the AdvanSure assay is a useful diagnostic tool for rapid and accurate detection of SARS-CoV-2 infection.
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Background@#Mutations in mitochondrial DNA (mtDNA) are associated with several genetic disorders, including sensorineural hearing loss. However, the prevalence of mtDNA mutations in a large cohort of Korean patients with hearing loss has not yet been investigated. Thus, this study aimed to investigate the frequency of mtDNA mutations in a cohort of with pre- or post-lingual hearing loss of varying severity. @*Methods@#A total of 711 Korean families involving 1,099 individuals were evaluated. Six mitochondrial variants associated with deafness (MTRNR1 m.1555A>G, MTTL1 m.3243A>G, MTCO1 m.7444G>A and m.7445A>G, and MTTS1 m.7471dupC and m.7511T>C) were screened using restriction fragment length polymorphism. The prevalence of the six variants was also analyzed in a large control dataset using whole-genome sequencing data from 4,534 Korean individuals with unknown hearing phenotype. @*Results@#Overall, 12 of the 711 (1.7%) patients with hearing loss had mtDNA variants, with 10 patients from independent families positive for the MTRNR1 m.1555A>G mutation and 2 patients positive for the MTCO1 m.7444G>A mutation. The clinical characteristics of patients with the mtDNA variants were characterized by post-lingual progressive hearing loss due to the m.1555A>G variant (9 of 472; 1.9%). In addition, 18/4,534 (0.4%) of the Korean population have mitochondrial variants associated with hearing loss, predominantly the m.1555A>G variant. @*Conclusion@#A significant proportion of Korean patients with hearing loss is affected by the mtDNA variants, with the m.1555A>G variant being the most prevalent. These results clarify the genetic basis of hearing loss in the Korean population and emphasize the need for genetic testing for mtDNA variants.
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Background@#Although particulate matter likely provokes inflammatory reactions in those with chronic skin disorders like atopic dermatitis, no study has examined the relationship between particulate matter and psoriasis exacerbation. @*Objective@#This study evaluated possible associations between particulate matter and hospital visits for psoriasis patients in 7 major cities in South Korea. @*Methods@#We investigated the relationship between psoriasis and particulate matter. To do this, we used psoriasis patient data from the Korean National Health Insurance Service database. In addition, PM 10 and PM 2.5 concentration data spanning a 3-year time frame were obtained from the Korea Environment Corporation. @*Results@#A pattern analysis generated by the sample cross-correlation function and time series regression showed a correlation between particulate matter concentration and the number of hospital visits by psoriasis patients. However, the prewhitening method, which minimizes the effects of other variables besides particulate matter, revealed no correlation between the two. @*Conclusion@#This study suggests that particulate matter has no impact on hospital visit frequency among psoriasis patients in South Korean urban areas.
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Background@#In psoriasis treatment, not all body regions improve simultaneously after clinical interventions. @*Objective@#This study was aimed at evaluating clinical responses across body regions, which may differentially influence patient treatment plans. @*Methods@#This prospective, observational, and multi-center study was conducted in Koreans who adhered to ustekinumab treatment based on criteria per local label and reimbursement guidelines. A total of 581 were included in this analysis. @*Results@#The mean (±standard deviation) psoriasis area severity index (PASI) score at baseline, age, disease duration, and body surface area (%) were 18.9±9.69, 44.2±13.29 years, 11.3±9.65 years, and 27.8±17.83, respectively. Across the head and neck, upper extremities, trunk, and lower extremities, the correlation between the PASI sub-scores for the upper and lower extremities was the highest (r=0.680). The mean PASI sub-score for the lower extremities was the highest at baseline. PASI90 and PASI100 scores were the highest for the head and neck region, indicating the highest response rates, while those for the lower extremities were consistently low at all visits. @*Conclusion@#We found differences in regional ustekinumab responses, with the lower extremities being the most difficult to treat. These findings should be considered in psoriasis treatment.
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Background@#Pediatric alopecia areata (AA) can affect the quality of life (QoL) of patients and their family members. Research on the QoL and burden on family members in pediatric AA is limited. @*Objective@#This nationwide multicenter questionnaire study described the QoL and burden of the family members of patients with pediatric AA. @*Methods@#This nationwide multicenter questionnaire study enrolled AA patients between the ages of 5 and 18 years from March 1, 2017 to February 28, 2018. Enrolled patients and their parents completed the modified Children’s Dermatology Life Quality Index (CDLQI) and the modified Dermatitis Family Impact (mDFI). The disease severity was measured using the Severity of Alopecia Tool (SALT) survey scores. @*Results@#A total of 268 patients with AA from 22 hospitals participated in this study. Our study found that the efficacy and satisfaction of previous treatments of AA decreased as the severity of the disease increased. The use of home-based therapies and traditional medicines increased with the increasing severity of the disease, but the efficacy felt by patients was limited. CDLQI and mDFI scores were higher in patients with extensive AA than those with mild to moderate AA. The economic and time burden of the family members also increased as the severity of the disease increased. @*Conclusion@#The severity of the AA is indirectly proportional to the QoL of patients and their family members and directly proportional to the burden. Physicians need to understand these characteristics of pediatric AA and provide appropriate intervention to patients and their family members.
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Background@#In 2015, the Korean Atopic Dermatitis Association (KADA) working group published consensus guidelines for treating atopic dermatitis (AD). @*Objective@#We aimed to provide updated consensus recommendations for systemic treatment of AD in South Korea based on recent evidence and experience. @*Methods@#We compiled a database of references from relevant systematic reviews and guidelines on the systemic management of AD. Evidence for each statement was graded and classified based on thestrength of the recommendation. Forty-two council members from the KADA participated in three rounds of voting to establish a consensus on expert recommendations. @*Results@#We do not recommend long-term treatment with systemic steroids forpatients with moderate-to-severe AD due to the risk of adverse effects. We recommend treatment with cyclosporine or dupilumab and selective treatment with methotrexate or azathioprine for patients with moderate-to-severe AD. We suggest treatment with antihistamines as an option for alleviating clinical symptoms of AD. We recommend selective treatment with narrowband ultraviolet B for patients with chronic moderate-to-severe AD. We do not recommend treatment with oral antibiotics for patients with moderate-to-severe AD but who have no signs of infection. We did not reach a consensus on recommendations for treatment with allergen-specific immunotherapy, probiotics, evening primrose oil, orvitamin D for patients with moderate-to-severe AD. We also recommend educational interventions and counselling for patients with AD and caregivers to improve the treatment success rate. @*Conclusion@#We look forward to implementing a new and updated consensus of systemic therapy in controlling patients with moderate-to-severe AD.
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Immunoreactive dynamics of tumor-infiltrating lymphocytes (TILs) within the tumor microenvironment in breast cancer are not well understood. This study aimed to investigate the spatiotemporal cellular dynamics of TILs in breast cancer models. Breast cancer cells were implanted into the dorsal skinfold chamber of BALB/c nude mice, and T lymphocytes were adoptively transferred. Longitudinal intravital imaging was performed, and the spatiotemporal dynamics of TILs were assessed. In the 4T1 model, TILs progressively exhibited increased motility, and their motility inside the tumor was significantly higher than that outside the tumor. In the MDA-MB-231 model, the motility of TILs progressively decreased after an initial increase. TIL motility in the MDA-MB-231 and MCF-7 models differed significantly, suggesting an association between programmed death-ligand 1 expression levels and TIL motility, which warrants further investigation. Furthermore, intravital imaging of TILs can be a useful method for addressing dynamic interactions between TILs and breast cancer cells.