[Show abstract][Hide abstract] ABSTRACT: Background:
Measuring the quality of life (QOL) is important in the evaluation of nonclinical aspects of diseases, for the discovery of functional and psychological limitations, and in choosing treatment in the initial phase of the disease. Pemphigus is a potentially fatal autoimmune bullous disease caused by autoantibodies against desmogleins (cadherin family proteins in desmosomes). Thus far, there has been no published study on QOL in Korean patients with pemphigus.
To study the impact of pemphigus on the QOL in a large number of Korean patients.
Sixty-six patients enrolled at the Gangnam Severance Hospital from March 2012 to March 2013 were assessed for QOL by using the Dermatology Life Quality Index (DLQI), and for anxiety and depression by using the General Health Questionnaire (GHQ). Spearman's rank-order correlation, t-test, and ANOVA were used to identify the relations between the DLQI score and other clinical variables.
Pemphigus vulgaris and pemphigus foliaceus significantly reduced the QOL of patients. The average DLQI score for all patients was 10.18. The mean DLQI score was 13.45 in patients in the active state and 5.15 in the patients in the remission state. The DLQI score highly correlated with disease severity, titer of anti-desmoglein 1 in enzyme-linked immunosorbent assay, and the corticosteroid dose. However, the QOL was not affected by sex, age, subtype of pemphigus, duration of disease, or comorbidities. Forty-two percent of the patients showed a positive result in the GHQ, reflecting probable minor psychiatric nonpsychotic conditions, and the GHQ score positively correlated to the DLQI score.
Pemphigus significantly impairs the QOL of patients. The QOL of Korean pemphigus patients significantly correlates with clinical severity. Therefore, considerable attention should be paid to the patients' QOL and psychological states as well as clinical status.
Annals of Dermatology 10/2015; 27(5):492-8. DOI:10.5021/ad.2015.27.5.492 · 1.39 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Melanocytic nevi are a benign clonal proliferation of cells expressing the melanocytic phenotype, with heterogeneous clinical and molecular characteristics. In this review, we discuss the genetics of nevi by salient nevi subtypes: congenital melanocytic nevi, acquired melanocytic nevi, blue nevi, and Spitz nevi. While the molecular etiology of nevi has been less thoroughly studied than melanoma, it is clear that nevi and melanoma share common driver mutations. Acquired melanocytic nevi harbor oncogenic mutations in BRAF, which is the predominant oncogene associated with melanoma. Congenital melanocytic nevi and blue nevi frequently harbor NRAS mutations and GNAQ mutations, respectively, while Spitz and atypical Spitz tumors often exhibit HRAS and kinase rearrangements. These initial "driver" mutations are thought to trigger the establishment of benign nevi. After this initial phase of cell proliferation, a senescence program is executed, causing termination of nevi growth. Only upon the emergence of additional tumorigenic alterations, which may provide an escape from oncogene-induced senescence, can malignant progression occur. Here, we review the current literature on the pathobiology and genetics of nevi in the hope that additional studies of nevi promise to inform our understanding of the transition from benign neoplasm to malignancy. This article is protected by copyright. All rights reserved.
This article is protected by copyright. All rights reserved.
[Show abstract][Hide abstract] ABSTRACT: Sinonasal mucosal melanoma (SMM) is an aggressive and rare type of melanoma. Although the classic RAS-RAF-MEK pathway is thought to be the main pathway involved in melanoma pathogenesis, genetic alterations in the PI3K-AKT pathway, including PTEN-regulated signaling, are also thought to contribute. So far, data regarding altered PTEN expression and epigenetic mechanism of PTEN silencing in development of SMM is extremely limited. Herein we report on a case of SMM with liver and bone metastases with an epigenetic alteration of PTEN. Results of mutation analysis for BRAF, NRAS, HRAS, KRAS, PIK3CA, C-kit, and PTEN were negative, however, methylation of PTEN CpG islands was observed. Our case not only supports PTEN as a major tumor suppressor involved in melanoma tumorigenesis, but also a potential epigenetic mechanism of PTEN silencing in development of SMM.
Cancer Research and Treatment 03/2015; DOI:10.4143/crt.2014.356 · 3.32 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Dermatofibrosarcoma protuberans (DFSP) carries a translocation resulting in the collagen type I alpha 1 (COL1A1)-platelet-derived growth factor beta (PDGFB) fusion gene, which is responsible for PDGFB activation. The purpose of this study is to evaluate the clinicopathological, genetic, and therapeutic features of DFSP in Korean patients.
Clinicopathological features of 37 patients with DFSP were reviewed. Multiplex reverse transcriptase-polymerase chain reaction (PCR) was carried out in 16 patients using formalin-fixed, paraffin-embedded tissues and specific primers for COL1A1 and PDGFB.
The mean age of 37 patients was 37.4 years old. The most common tumor location was the trunk. All patients were treated primarily with surgery: 34 (91.7%) cases with Mohs micrographic surgery (MMS) and 3 (8.3%) cases with wide local excision. The median follow-up time was 33.7 months. Two patients, one in each treatment group, demonstrated local recurrence during the follow-up period. The COL1A1-PDGFB fusion gene was expressed in 14 (87.5%) cases, demonstrated by reverse transcriptase PCR analysis. No association was found among the different COL1A1-PDGFB fusion transcripts, the various histological subtypes and clinical features.
Our results support the effectiveness of MMS in treating DFSP. The COL1A1-PDGFB fusion transcript was observed in 87.5% of patients. Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans.
Yonsei Medical Journal 03/2015; 56(2):440-6. DOI:10.3349/ymj.2015.56.2.440 · 1.29 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: There is no standard second-line regimen for malignant melanoma patients with disease progression after first-line chemotherapy, and platinum-alkylating agents combined with paclitaxel have shown modest efficacy.
We conducted a phase II, open-label, single-arm study to test the efficacy of docetaxel combined with carboplatin for malignant melanoma patients who failed previous treatment with dacarbazine. Intravenous docetaxel (35 mg/m2 on days 1 and 8 of each cycle) and carboplatin (area under the curve [AUC] 3 on days 1 and 8 of each cycle) was administered every 21 days. Primary end point was objective response rate (ORR). (ClinicalTrials.gov number NCT02223884).
Thirty patients were enrolled in the study, and the median follow-up duration was 19.8 months. Among 25 per-protocol patients, there were three responders (one with complete response [CR] and two with partial response [PR]) and 17 stable disease (SD) patients (ORR = 12.0%). Among the per-protocol population, the median progression free survival (PFS) was 4.3 months and the median overall survival (OS) was 9.6 months. Uveal melanoma patients (n=9) showed the best prognosis compared to other subtypes (median PFS 7.6 months and OS 9.9 months). The most common grade 3 or 4 adverse event was neutropenia (n=15, 50.0%).
Docetaxel combined with carboplatin showed association with an acceptable safety profile and overall efficacy for patients with malignant melanoma who had progressed on chemotherapy containing dacarbazine.
Cancer Research and Treatment 02/2015; 47(4). DOI:10.4143/crt.2014.261 · 3.32 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The incidence of cutaneous melanoma (CM) continues to increase in the Caucasian population in the United States. In 2014, women only accounted for 42% of the 76,100 new melanoma cases and only 33% of the 9,710 deaths associated with CM in the US.(1) These trends are consistently observed in populations around the world. Indeed, gender disparity in melanoma outcome is so consistently observed that gender has been suggested as an important prognostic factor in melanoma, despite not being formerly incorporated in staging algorithms.(2) The source of this gender disparity in melanoma remains unclear but likely represents both biological and behavioral etiologies. Herein, we review the current knowledge of how melanoma differs between men and women.
[Show abstract][Hide abstract] ABSTRACT: Pigmented mammary Paget disease is a very rare clinicopathologic variant of mammary Paget disease. Diagnosis is often difficult because its clinical and histological features are very similar to those of malignant melanoma. Herein, we report a case of pigmented mammary Paget disease misdiagnosed as malignant melanoma.
Annals of Dermatology 12/2014; 26(6):747-750. DOI:10.5021/ad.2014.26.6.747 · 1.39 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Surgical scars are crucial cosmetic problem, especially when in exposed areas such as the anterior neck following thyroidectomy.
To evaluate the impact of post-thyroidectomy scars on quality of life (QoL) of thyroid cancer patients and identify the relationship between scar characteristics and QoL.
Patients with post-thyroidectomy scars on the neck were recruited. QoL was measured using the Dermatology Life Quality Index (DLQI). Scar characteristics were graded according to Vancouver scar scale (VSS) score.
Ninety-seven patients completed a battery of questions at the time of enrollment. Post-thyroidectomy scars were classified according to morphology as linear flat scars, linear bulging scars, hypertrophic scars or adhesive scars. There were 32 patients (33.0%), 9 patients (9.3%), 41 patients (42.3%) and 15 patients (15.5%), respectively, in each group. The mean total DLQI score was 9.02. Domain 2 (daily activities, 2.87 points), which includes questions about clothing, was the most greatly impacted among patients. The total DLQI scores of patients who have experienced scar-related symptoms were significantly higher than those of patients without symptoms (p<0.05). The VSS scores were 3.09 for linear flat scars, 6.89 for linear bulging scars, 6.29 for hypertrophic scars and 5.60 for adhesive scars. However, the DLQI scores did not significantly differ among scar types or VSS scores.
Post-thyroidectomy scars on the neck affect the QoL of thyroid cancer patients regardless of scar type. Therefore, clinicians should pay attention to the psychological effects of scars on patients and take care to minimize post-thyroidectomy scar.
Annals of Dermatology 12/2014; 26(6):693-699. DOI:10.5021/ad.2014.26.6.693 · 1.39 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: BackgroundGenetic alterations have been identified in melanomas according to different levels of sun exposure. Whereas the conventional morphology-based classification provides a clue for tumor growth and prognosis, the new classification by genetic alterations offers a basis for targeted therapy.ObjectiveThe purpose of this study is to demonstrate the biological behavior of melanoma subtypes and compare the two classifications in the Korean population.MethodsA retrospective chart review was performed on patients found to have malignant melanoma in Severance Hospital from 2005 to 2012. Age, sex, location of the tumor, histologic subtype, tumor depth, ulceration, lymph node invasion, visceral organ metastasis, and overall survival were evaluated.ResultsOf the 206 cases, the most common type was acral melanoma (n=94, 45.6%), followed by nonchronic sun damage-induced melanoma (n=43, 20.9%), and mucosal melanoma (n=40, 19.4%). Twenty-one patients (10.2%) had the chronic sun-damaged type, whereas eight patients (3.9%) had tumors of unknown primary origin. Lentigo maligna melanoma was newly classified as the chronic sun-damaged type, and acral lentiginous melanoma as the acral type. More than half of the superficial spreading melanomas were newly grouped as nonchronic sun-damaged melanomas, whereas nodular melanoma was rather evenly distributed.ConclusionThe distribution of melanomas was largely similar in both the morphology-based and sun exposure-based classifications, and in both classifications, mucosal melanoma had the worst 5-year survival owing to its tumor thickness and advanced stage at the time of diagnosis.
Annals of Dermatology 08/2014; 26(4):485-90. DOI:10.5021/ad.2014.26.4.485 · 1.39 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Background: Matrix metalloproteinase (MMP), tissue inhibitor of metalloproteinase (TIMP), and membrane-type 1 matrix metalloproteinase (MT1-MMP) are thought to be involved in the destruction of basement membrane and stromal invasion by cancer cells. Objective: The aim of this study was to identify and compare MMP and TIMP expression in internal malignancies and paired cutaneous metastatic lesions. Materials and Methods: We compared the expression of MMP-2, MMP-9, MT1-MMP, and TIMP-2 in the internal malignancy and paired cutaneous metastatic lesion using immunohistochemical stains. Results: The cutaneous metastatic lesions expressed significantly more MMP-2, MMP-9, and MT1-MMP and significantly less TIMP-2 than did the paired internal malignancies. In breast cancer, cutaneous metastatic lesions expressed significantly more MMP-9 and significantly less TIMP-2 than did the primary breast cancer lesion. In lung cancer, the cutaneous metastatic lesion expressed significantly more MMP-2 and MT1-MMP than did the primary lesion. In stomach cancer, the cutaneous metastatic lesion expressed significantly less TIMP-2 than did the primary lesion. Conclusions: Our study demonstrates that cutaneous metastatic lesions have different MMPs and TIMP-2 expression patterns compared with their paired internal malignancies. Also, MMPs and TIMP-2 expression differs according to the type of primary cancer.
American Journal of Dermatopathology 07/2014; 37(5). DOI:10.1097/DAD.0000000000000184 · 1.39 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Runt-related transcription factor 3 (RUNX3) has recently been reported to be a possible predictor of sensitivity of cancer cells for photodynamic therapy (PDT), a promising therapeutic modality for keloids. In this study, we aimed to elucidate the implications of RUNX3 for keloid pathogenesis and sensitivity to pheophorbide a-based PDT (Pa-PDT). RUNX3 and proliferating cell nuclear antigen (PCNA) expression were examined in 6 normal skin samples and 32 keloid tissue samples by immunohistochemistry. We found that RUNX3 expression was detected more often in keloid tissues than in dermis of normal skin. In keloid tissues, RUNX3 expression was significantly increased in patients presenting with symptoms of pain or pruritus, and was also significantly related to PCNA expression. The therapeutic effect of Pa-PDT was comparatively investigated in keloid fibroblasts (KFs) with and without RUNX3 expression. Significant differences were found after Pa-PDT between KFs with and without RUNX3 expression in cell viability, proliferative ability, type I collagen expression, generation of reactive oxygen species (ROS), and apoptotic cell death. In addition, RUNX3 expression was significantly decreased after Pa-PDT in KFs, and KFs with downregulation of RUNX3 showed significantly increased cell viability after Pa-PDT. Pa-PDT may be a potential therapeutic modality for keloids, and RUNX3, as a possible contributor to keloid pathogenesis, may improve sensitivity to Pa-PDT in KFs.
Lasers in Medical Science 06/2014; 30(1). DOI:10.1007/s10103-014-1614-4 · 2.49 Impact Factor