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1.
Photodermatol Photoimmunol Photomed ; 40(1): e12945, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38288772

RESUMEN

BACKGROUND: Photoprotection is crucial in preventing the development and progression of various skin diseases. However, patients with skin disease have limited awareness of photoprotection. We evaluated the knowledge and behavioral patterns of photoprotection among Koreans with skin diseases. METHODS: A cross-sectional study was conducted in 11 general hospitals across South Korea. The study population consisted of patients aged 19 years or older who visited dermatologic clinics for their skin diseases. A self-administered questionnaire was used to collect patient demographics, knowledge of photoprotection, and photoprotective habits. RESULTS: In this study, 1173 patients with skin cancer, hyperpigmentary disorders, hypopigmentary disorders, or other skin diseases participated. Females scored significantly higher in knowledge of photoprotection compared to males (mean score 8.4 vs. 7.8; p < .001), and younger patients (<50 years) scored higher than older patients (mean score 8.7 vs. 7.5; p < .001). Males also reported longer sun exposure times and lower usage of photoprotective measures (both p < .001). Patients with skin cancer had the lowest mean knowledge score (7.1 ± 2.6) and were less likely to use photoprotective measures compared to other groups (p < .001). In contrast, patients with hyperpigmentation actively avoided sun exposure compared with other groups (p < 0.001). CONCLUSIONS: Knowledge of photoprotection among Korean patients with skin diseases varied depending on the gender, age, and type of skin disease. Their photoprotective behaviors were inadequate, especially among males and those with skin cancer. These findings emphasize the importance of educating and tailoring photoprotection strategies for patients with skin diseases.


Asunto(s)
Hiperpigmentación , Neoplasias Cutáneas , Masculino , Femenino , Humanos , Rayos Ultravioleta/efectos adversos , Protectores Solares/uso terapéutico , Estudios Transversales , Neoplasias Cutáneas/tratamiento farmacológico , Hábitos , Hiperpigmentación/tratamiento farmacológico
2.
J Eur Acad Dermatol Venereol ; 37(12): 2543-2549, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37528459

RESUMEN

BACKGROUND: Pigmented contact dermatitis (PCD), a rare variant of non-eczematous contact dermatitis, is clinically characterized by sudden-onset brown or grey pigmentation on the face and neck. It is hypothesized to be caused by repeated contact with low levels of allergens. OBJECTIVES: This study evaluated the risk of using hair dyes in patients with PCD in Korea. METHODS: A total of 1033 PCD patients and 1366 controls from 31 university hospitals were retrospectively recruited. We collected and analysed the data from the patient group, diagnosed through typical clinical findings of PCD and the control group, which comprised age/sex-matched patients who visited the participating hospitals with pre-existing skin diseases other than current allergic disease or PCD. RESULTS: Melasma and photosensitivity were significantly more common in the control group, and a history of contact dermatitis was more common in the PCD group. There were significantly more Fitzpatrick skin type V participants in the PCD group than in the control group. There was no significant difference in sunscreen use between the groups. Using dermatologic medical history, Fitzpatrick skin type and sunscreen use as covariates, we showed that hair dye use carried a higher PCD risk (odds ratio [OR] before adjustment: 2.06, confidence interval [CI]: 1.60-2.65; OR after adjustment: 2.74, CI: 1.88-4.00). Moreover, henna users had a higher risk of PCD (OR before adjustment: 5.51, CI: 4.07-7.47; OR after adjustment: 7.02, CI: 4.59-10.74), indicating a significant increase in the risk of PCD with henna dye use. Contact dermatitis history was more prevalent in henna users than in those using other hair dyes in the PCD group (17.23% vs. 11.55%). CONCLUSION: Hair dye use is a risk factor for PCD. The risk significantly increased when henna hair dye was used by those with a history of contact dermatitis.


Asunto(s)
Dermatitis Alérgica por Contacto , Tinturas para el Cabello , Humanos , Tinturas para el Cabello/efectos adversos , Estudios Retrospectivos , Dermatitis Alérgica por Contacto/diagnóstico , Dermatitis Alérgica por Contacto/epidemiología , Dermatitis Alérgica por Contacto/etiología , Protectores Solares , República de Corea/epidemiología
3.
Acta Derm Venereol ; 102: adv00647, 2022 Feb 11.
Artículo en Inglés | MEDLINE | ID: mdl-35088871

RESUMEN

Leukaemia is a malignant neoplasm of the haematopoietic system. Cutaneous manifestations of leukaemia are called leukaemia cutis, and are regarded as a sign of poorer prognosis and shorter survival time. A single-institution retrospective review was performed of medical records of patients diagnosed with leukaemia cutis in the dermatology department of Seoul St Mary's Hospital between January 2012 and April 2021. Fifty-six cases with cutaneous leukaemic involvement and underlying haematological malignancy were included (40 acute myelogenous leukaemia, 8 acute lymphoblastic leukaemia, 3 chronic myeloid leukaemia, 2 chronic lymphocytic leukaemia, and 3 myelodysplastic syndrome). Male-female ratio 1.9:1, mean age at diagnosis 45.8 years. Plaques (28%) and papules (27%) were the most common skin lesions, followed by patches (18%) and nodules (16%). Mean time from diagnosis of leukaemia to development of leukaemia cutis was 12.3 months. Forty-six patients (84%) died during the 7-year follow-up; mean time from diagnosis of leukaemia cutis to death was 5.4 months. The results suggest that leukaemia cutis is associated with poor outcomes in patients with leukaemia. Comprehensive skin examination of these patients may help diagnose leukaemia cutis early, enabling prompt treatment.


Asunto(s)
Leucemia Linfocítica Crónica de Células B , Leucemia Mieloide Aguda , Enfermedades de la Piel , Neoplasias Cutáneas , Femenino , Humanos , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/epidemiología , Leucemia Mieloide Aguda/terapia , Masculino , Estudios Retrospectivos , Neoplasias Cutáneas/terapia
4.
Int J Mol Sci ; 22(12)2021 Jun 16.
Artículo en Inglés | MEDLINE | ID: mdl-34208517

RESUMEN

Superoxide dismutase 3 (SOD3), also known as extracellular superoxide dismutase, is an enzyme that scavenges reactive oxygen species (ROS). It has been reported that SOD3 exerts anti-inflammatory abilities in several immune disorders. However, the effect of SOD3 and the underlying mechanism in inflammatory bowel disease (IBD) have not been uncovered. Therefore, in the present study, we investigated whether SOD3 can protect intestinal cells or organoids from inflammation-mediated epithelial damage. Cells or mice were treated with SOD3 protein or SOD3-transduced mesenchymal stem cells (MSCs). Caco-2 cells or intestinal organoids stimulated with pro-inflammatory cytokines were used to evaluate the protective effect of SOD3 on epithelial junctional integrity. Dextran sulfate sodium (DSS)-induced colitis mice received SOD3 or SOD3-transduced MSCs (SOD3-MSCs), and were assessed for severity of disease and junctional protein expression. The activation of the mitogen-activated protein kinase (MAPK) pathway and elevated expression of cytokine-encoding genes decreased in TNF-α-treated Caco-2 cells or DSS-induced colitis mice when treated with SOD3 or SOD3-MSCs. Moreover, the SOD3 supply preserved the expression of tight junction (ZO-1, occludin) or adherence junction (E-cadherin) proteins when inflammation was induced. SOD3 also exerted a protective effect against cytokine- or ROS-mediated damage to intestinal organoids. These results indicate that SOD3 can effectively alleviate enteritis symptoms by maintaining the integrity of epithelial junctions and regulating inflammatory- and oxidative stress.


Asunto(s)
Colitis/etiología , Colitis/metabolismo , Mucosa Intestinal/metabolismo , Células Madre Mesenquimatosas/metabolismo , Superóxido Dismutasa/genética , Uniones Estrechas/metabolismo , Animales , Biomarcadores , Células CACO-2 , Colitis/patología , Citocinas/metabolismo , Modelos Animales de Enfermedad , Susceptibilidad a Enfermedades , Humanos , Inmunohistoquímica , Mediadores de Inflamación/metabolismo , Células Madre Mesenquimatosas/citología , Ratones , Especies Reactivas de Oxígeno/metabolismo , Superóxido Dismutasa/metabolismo , Uniones Estrechas/patología
5.
Acta Derm Venereol ; 99(11): 984-989, 2019 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-31282978

RESUMEN

Castleman's disease is a rare disease of the lymph nodes and related tissues, presenting as angiofollicular or giant lymph node hyperplasia. Although various skin manifestations have been reported to occur in Castleman's disease, a comprehensive study of cutaneous disorders in Castleman's disease is lacking. Therefore, the aim of this study was to investigate Castleman's disease-associated cutaneous disorders. The medical records of 57 patients with Castleman's disease who visited our hospitals from January 2007 to May 2018 were analysed retrospectively. Patients were classified according to the presence of skin involvement. Plasma variant-type Castleman's disease and multicentric Castleman's disease were more commonly found in patients with Castleman's disease with a cutaneous disorder than in those without a cutaneous disorder. In addition, the skin disorders were classified according to pathomechanisms: immune complex-related (paraneoplastic pemphigus, xanthogranulomas), cytokine-related (vasculitis-like lesion, cherry angioma, hyperpigmentation), and non-specific (pruritus). This study builds on previous case reports of cutaneous disorders in Castleman's disease and proposes a new classification system.


Asunto(s)
Complejo Antígeno-Anticuerpo/inmunología , Enfermedad de Castleman/complicaciones , Citocinas/inmunología , Enfermedades de la Piel/etiología , Piel/inmunología , Adolescente , Adulto , Enfermedad de Castleman/inmunología , Enfermedad de Castleman/patología , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Riesgo , Seúl , Piel/patología , Enfermedades de la Piel/inmunología , Enfermedades de la Piel/patología , Pigmentación de la Piel , Adulto Joven
8.
Acta Derm Venereol ; 98(4): 396-400, 2018 Apr 16.
Artículo en Inglés | MEDLINE | ID: mdl-29265167

RESUMEN

This study investigated the prevalence of psoriasis and trends in prescription of medications for patients with psoriasis using the Korean National Health Insurance Claims Database from 2006 to 2015. The prevalence of psoriasis and psoriatic arthritis per 10,000 people increased from 47.4 to 61.5 and from 0.04 to 0.23 respectively. The prescription of topical agents was a mean of 73.3%. For systemic agents, prescription of acitretin decreased from 74.8 to 44.5%, methotrexate showed a fluctuation, with a mean of 14.9% and cyclosporine increased from 9.0 to 41.2%. The prescription of biological agents increased sharply from 18 to 1,127 patients. Use of ustekinumab increased from 4.1 to 82.4%; use of infliximab decreased from 20.7 to 6.7% and etanercept decreased from 100 to 6.1%. This study showed an increasing trend in the prevalence of psoriasis. We also reported a rapid increase in the use of biologics in recent years.


Asunto(s)
Artritis Psoriásica/tratamiento farmacológico , Artritis Psoriásica/epidemiología , Productos Biológicos/administración & dosificación , Fármacos Dermatológicos/administración & dosificación , Pautas de la Práctica en Medicina/tendencias , Psoriasis/tratamiento farmacológico , Psoriasis/epidemiología , Reclamos Administrativos en el Cuidado de la Salud , Adolescente , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Artritis Psoriásica/diagnóstico , Niño , Preescolar , Bases de Datos Factuales , Prescripciones de Medicamentos , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Prevalencia , Psoriasis/diagnóstico , República de Corea/epidemiología , Índice de Severidad de la Enfermedad , Distribución por Sexo , Factores de Tiempo , Adulto Joven
10.
Pediatr Dermatol ; 35(5): e328-e329, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-29943855

RESUMEN

Spitz nevus commonly appears as a solitary lesion. A 12-year-old male patient presented with a 6-month history of several pigmented lesions on his trunk and lower extremities. He had undergone chemoradiotherapy and unrelated umbilical cord blood transplantation against recurring acute lymphoblastic leukemia for 6 years. After that, several pigmented lesions abruptly developed on his trunk and lower extremities, and the number of those increased significantly. Pathologically, the diagnosis of multiple Spitz nevi was made. In a clinical correlation, we diagnosed multiple Spitz nevi resulting from such an immunocompromised condition. This is the first description of clinical, dermoscopic, and histopathologic features of multiple Spitz nevi in the hematopoietic cell transplantation (HSCT) recipient child.


Asunto(s)
Trasplante de Células Madre Hematopoyéticas/efectos adversos , Nevo de Células Epitelioides y Fusiformes/patología , Neoplasias Cutáneas/patología , Niño , Humanos , Huésped Inmunocomprometido , Masculino , Nevo de Células Epitelioides y Fusiformes/etiología , Piel/patología , Neoplasias Cutáneas/etiología , Trasplante Homólogo
15.
JAMA Dermatol ; 160(2): 194-198, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38091023

RESUMEN

Importance: Vitiligo is a multifactorial, depigmenting skin disorder characterized by selective loss of melanocytes. Large-scale studies are lacking to determine the risk of vitiligo in transplant recipients with graft-vs-host disease (GVHD). Objective: To investigate the incidence rates and risk of vitiligo in patients who had received solid organ transplant (SOT) or hematopoietic stem cell transplant (HSCT) overall and by HSCT graft type and concomitant GVHD. Design, Setting, and Participants: This population-based cohort study included data from the National Health Insurance Service database of Korea for patients aged 20 years or older who had received a transplant (SOT or HSCT) between January 2010 and December 2017, with follow-up until December 2019. A cohort of age- and sex-matched (1:5) control individuals who did not receive a transplant was included for comparison. Data were analyzed from July 2021 to December 2021. Exposure: Transplant (SOT or HSCT) and GVHD. Main Outcomes and Measures: The main outcome was risk of vitiligo, assessed using multivariable Cox proportional hazards regression analyses adjusting for potential confounding factors. Results: The study included 23 829 patients who had undergone SOT or HSCT (62.78% male; mean [SD] age, 49.58 [11.59] years) and 119 145 age- and sex-matched controls. Patients who had undergone transplant had a significantly higher risk of vitiligo compared with controls (adjusted hazard ratio [AHR], 1.73; 95% CI, 1.35-2.22). Risk of vitiligo was also slightly higher in kidney transplant recipients and liver transplant recipients compared with the controls but was highest in HSCT recipients (AHR, 12.69; 95% CI, 5.11-31.50). Patients who had received allogeneic grafts (AHR, 14.43; 95% CI, 5.61-37.15), those who had received autologous grafts (AHR, 5.71; 95% CI, 1.20-3.18), those with comorbid GVHD (AHR, 24.09; 95% CI, 9.16-63.35), and those without GVHD (AHR, 8.21; 95% CI, 3.08-21.87) had a higher risk of vitiligo compared with controls. Conclusion and Relevance: In this study, risk of vitiligo was significantly higher in transplant recipients, especially in HSCT recipients and those with allogeneic grafts or comorbid GVHD. These findings provide new insights into the association between the risk of vitiligo and transplant and GVHD. Clinicians should be aware of these risks, implementing a multidisciplinary approach for monitoring.


Asunto(s)
Enfermedad Injerto contra Huésped , Trasplante de Células Madre Hematopoyéticas , Vitíligo , Humanos , Masculino , Persona de Mediana Edad , Femenino , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Vitíligo/epidemiología , Vitíligo/etiología , Estudios de Cohortes , Receptores de Trasplantes , Enfermedad Injerto contra Huésped/epidemiología , Enfermedad Injerto contra Huésped/etiología , Estudios Retrospectivos
16.
Ther Adv Chronic Dis ; 15: 20406223241230180, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38415046

RESUMEN

Background: Secukinumab, a fully human monoclonal antibody, was approved in Korea for the treatment of moderate to severe psoriasis in September 2015. Objectives: To assess the safety and effectiveness of secukinumab in patients with moderate to severe psoriasis in Korea. Design: Multicenter, real-world, noninterventional study conducted over 6 years. Methods: Adults with moderate to severe psoriasis were enrolled. Safety was assessed by evaluating adverse events (AEs), treatment-related AEs, and serious AEs (SAEs). Effectiveness was assessed using the change in absolute Psoriasis Area and Severity Index (PASI) score, percentage of patients achieving PASI 75/90/100 and PASI ⩽2; at weeks 12 and 24. Results: Overall, 829 and 542 patients were included in the safety and effectiveness sets, respectively. AEs, treatment-related AEs, and SAEs occurred in 29.0%, 9.5%, and 4.1% of patients, with incidence rates of 39.43, 12.98, and 5.59 per 100 patient years, respectively. The absolute PASI score decreased from 16.1 ± 7.1 (baseline) to 1.6 ± 2.4 (week 24), with a similar reduction in biologic-naïve (16.4 ± 7.3 to 1.5 ± 2.2) and biologic-experienced (14.8 ± 5.9 to 2.4 ± 3.2) groups. At week 24, PASI 75/90/100 was achieved by 95.1%, 62.4%, and 24.9% of patients. At week 24, PASI 75/90 were higher in biologic-naïve (96.6%/65.8%) than biologic-experienced patients (88.3%/48.6%), whereas PASI 100 was similar in both cohorts (24.1% and 28.6%). A similar trend in PASI ⩽ 2 was observed in both cohorts. Conclusion: Secukinumab showed sustained effectiveness and favorable safety profile in adult patients with moderate to severe psoriasis in Korea.

17.
J Dermatol ; 51(7): 1010-1016, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38716641

RESUMEN

Small plaque psoriasis is the typical form of chronic plaque psoriasis affecting adults in South Korea. The effectiveness of calcipotriol/betamethasone dipropionate (Cal/BD) aerosol foam for large and small psoriasis plaques has not previously been examined. We performed a post hoc analysis of a recent, 4-week observational study of Cal/BD aerosol foam use in routine clinical practice in South Korea. Investigator Global Assessment response ([IGA] 0/1 at week 4), Patient Global Assessment response ([PaGA] 0/1 at week 4), change in Psoriasis Area and Severity Index (PASI), changes in psoriasis symptom scores, change in the Dermatology Life Quality Index (DLQI), and the proportion of patients achieving DLQI ≤5 were analyzed for patients with small (≤5 cm; n = 131) or large (>5 cm; n = 35) baseline plaque size. IGA response rates were similar for patients with small and large plaques (59.5% and 51.4% respectively). Similarly, there was no significant difference between the small and large groups in mean change in PASI (-2.20 vs -3.34), the proportions of patients with DLQI ≤5 (62.3% vs 54.3%) or PaGA 0/1 (29.2% vs 40.0%). Mean improvements in DLQI (-4.04 vs -6.20) and in psoriasis symptoms including itching (-1.50 vs -2.83), sleep loss (-0.67 vs -1.89), dryness (-1.57 vs -2.97), scaling (-1.21 vs -3.57), and redness (-1.17 vs -3.11) were greater in patients with large plaques than those with small plaques. Itching and DLQI differences were not statistically significant after adjustment for baseline characteristics. Stratification by body surface area affected eliminated statistically significant differences between the groups for most outcomes. In conclusion, this analysis suggests that Cal/BD aerosol foam is an effective, well-accepted treatment for adult patients with the small plaques typical of chronic plaque psoriasis in South Korea, as well as for those with large plaques.


Asunto(s)
Aerosoles , Betametasona , Calcitriol , Fármacos Dermatológicos , Psoriasis , Calidad de Vida , Índice de Severidad de la Enfermedad , Humanos , Psoriasis/tratamiento farmacológico , Psoriasis/diagnóstico , Psoriasis/patología , Calcitriol/análogos & derivados , Calcitriol/administración & dosificación , Masculino , Betametasona/administración & dosificación , Betametasona/análogos & derivados , Femenino , República de Corea , Persona de Mediana Edad , Adulto , Resultado del Tratamiento , Fármacos Dermatológicos/administración & dosificación , Combinación de Medicamentos , Anciano
18.
J Korean Med Sci ; 28(7): 1083-8, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23853494

RESUMEN

The incidence of overall cancer has increased over time. The incidence of top-ranking cancers has changed in the 1990s and the 2000s. However, few studies have evaluated the trends in metastatic skin cancers during this period. We evaluated the recent trends in incidence, peak age and location of metastatic skin cancers from 1991 to 2010. This 20-yr survey was divided into two decades to determine the trends by comparing the statistics. Out of 694,466 outpatients (1991-2010), 174 (0.025%) were diagnosed with metastatic skin cancer. The incidence of metastatic skin cancer increased significantly from 20.64 per 100,000 outpatients in the 1990s to 28.70 per 100,000 outpatients in the 2000s (P = 0.030). The peak age of skin metastasis shifted from the 40s to the 50s in women, and from the 50s to the 60s in men. The percentage of metastatic skin cancers originating from intra-abdominal organs increased from 10% in the 1990s to 23.1% in the 2000s (P = 0.027). The percentage of metastatic skin cancers located on the abdomen increased from 7.1% in the 1990s to 15.4% in the 2000s (P = 0.011). The higher proportion of metastatic skin cancers located on the abdomen may be related to the increase in skin metastases from intra-abdominal organs.


Asunto(s)
Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/secundario , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Sistema de Registros , República de Corea/epidemiología , Adulto Joven
19.
J Invest Dermatol ; 143(7): 1187-1196.e9, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36716918

RESUMEN

Normal skin contains numerous clones carrying cancer driver mutations. However, the mutational landscape of normal skin and its clonal relationship with skin cancer requires further elucidation. The aim of our study was to investigate the mutational landscape of normal human skin. We performed whole-exome sequencing using physiologically normal skin tissues and the matched peripheral blood (n = 39) and adjacent-matched skin cancers from a subset of patients (n = 10). Exposed skin harbored a median of 530 mutations (10.4/mb, range = 51-2,947), whereas nonexposed skin majorly exhibited significantly fewer mutations (median = 13, 0.25/mb, range = 1-166). Patient age was significantly correlated with the mutational burden. Mutations in six driver genes (NOTCH1, FAT1, TP53, PPM1D, KMT2D, and ASXL1) were identified. De novo mutational signature analysis identified a single signature with components of UV- and aging-related signatures. Normal skin harbored only three instances of copy-neutral loss of heterozygosity in 9q (n = 2) and 6q (n = 1). The mutational burden of normal skin was not correlated with that of matched skin cancers, and no protein-coding mutations were shared. In conclusion, we revealed the mutational landscape of normal skin, highlighting the role of driver genes in the malignant progression of normal skin.


Asunto(s)
Carcinogénesis , Neoplasias Cutáneas , Humanos , Mutación , Carcinogénesis/genética , Secuenciación del Exoma , Queratinocitos , Neoplasias Cutáneas/genética , Análisis Mutacional de ADN
20.
J Dermatol ; 50(3): 397-400, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36117467

RESUMEN

The genomic landscape of Bowen's disease (BD), with multiple manifestations, has not yet been determined. This study aimed to investigate the genomic alterations in multiple BD. We performed whole-exome sequencing of BD lesions (n = 9) and matched germlines collected from three patients with multiple (≥3) BD to detect somatic and germline mutations. We found a median of 64 somatic mutations in each sample (range 20-267). UV-signature mutations accounted for 64.9% (median, range 26.0%-82.1%) of point mutations. Putative driver mutations were found in five BDs (RB1 p.R445*, ARID2 p.R274*, TP53 p.Y163D/p.Y205D/p.R342*, KMT2C p.R4549C) but not in the other four lesions. Somatic mutations were not shared between multiple BD lesions collected from the same patient, indicating a different clonal origin. We also found no known pathogenic germline mutations in cancer-related genes. The mutational signature analysis revealed that UV signatures (SBS7a/7b) and age-related signatures (SBS1/5) were the main active signatures. Copy number alterations (CNAs) were found in two BDs: one with extensive CNA regions (21.7% of the genome), including driver genes (PIK3CA/SOX2/TP63 and MYC gain, and CDKN2A loss), and the other with 1q gain. Our study revealed that multiple BD lesions harbor distinct genomic landscapes, suggesting that they have different risks of malignant progression.


Asunto(s)
Enfermedad de Bowen , Neoplasias Cutáneas , Humanos , Mutación , Secuenciación del Exoma , Enfermedad de Bowen/genética , Genómica , Neoplasias Cutáneas/genética
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