Objective To detect the expression of BRAF V600E mutant protein in cutaneous malignant melanoma (CMM),and to evaluate the sensitivity and specificity of immunohistochemistry (IHC) in detecting BRAF V600E mutation.Methods IHC with an anti-BRAF V600E monoclonal antibody was performed to detect the expression of BRAF V600E mutant protein in paraffin-embedded tissue sections from 103 patients with CMM and 40 patients with nevus.Statistical analysis was carried out with SPSS software version 17.0,and the expression rate of BRAF V600E mutant protein was compared by chi-square test.Results The expression rate of BRAF V600E mutant protein in the CMM patients was 20.4％ (21/103),significantly higher than that in the nevus patients (5.0％ (2/40),x2 =5.06,P ＜ 0.05).Significant differences were observed in the expression rate of BRAF V600E mutant protein between CMM patients of different age groups (29.8％ (14/47) in patients aged ＜ 60 years vs.12.5％ (7/56) in those aged ≥ 60 years,P ＜ 0.05) and nationality (30.2％ (13/43) for Uygur nationality vs.13.3％ (8/60) for Han nationality,P ＜ 0.05),as well as among CMM lesions from different anatomical sites (13.6％ (6/42) in acral sites vs.11.8％ (4/29) in mucous membrane vs.45.8％ (11/32) in non-acral sites,P ＜ 0.05) and of different Clark levels (8.6％ (4/42) for grade Ⅰ-Ⅲ vs.12.4％ (17/61) for grade Ⅳ-Ⅴ,P＜ 0.05),but not between male and female CMM patients or between CMM patients with lymph node metastasis and those without (both P ＞ 0.05).IHC with the anti-BRAF V600E antibody showed a sensitivity of 100％ (15/15) and a specificity of 98.5％ (65/66) in detecting BRAF V600E mutation.Conclusions The expression of BRAF V600E mutant protein is up-regulated in CMM lesions,and CMM patients of Uygur nationality seems to have a higher expression rate than those of Han nationality.IHC appears to be an accurate and rapid method to detect V600E BRAF mutation.

Objective To analyze mutations in the ATP2A2 gene in a Kazakh family with Darier's disease.Methods Clinical data were collected from 49 members from a family with Darier's disease,and peripheral blood samples were obtained from 44 family members and 100 unrelated healthy people.Genomic DNA was extracted from these blood samples.PCR and DNA sequencing were performed to detect mutations in the ATP2A2 gene.Results Darier's disease was inherited in an autosomal dominant manner in this family.A G→A heterozygous mutation (1288-1G→A) was identified at position 1288-1 at the splice site in exon 12 of the ATP2A2 gene in 11 patients in this family,but not in 33 healthy members or 100 healthy controls.Conclusion Darier's disease in this family may be caused by the heterozygous mutation (1288-1G→A)at the splice site in exon 12 of the ATP2A2 gene.

Objective To evaluate the application value of confocal laser scanning microscopy(CLSM)in the differentiation between seborrheic keratosis and Bowen′s disease. Methods CLSM was used to observe typical skin lesions in 88 patients clinically diagnosed with seborrheic keratosis and 18 patients clinically diagnosed with Bowen′s disease. Then, tissue specimens were resected from these lesions and subjected to histopathological examination. Results CLSM imaging of seborrheic keratosis lesions showed gyrus?like structures and keratin?filled inclusion cysts in the epidermis with trabecula?like extension of rete ridges in all the 88 cases, basal cells arranged in a cordike or radial pattern in 9 cases, and bright reflective structures in the basal layer and dermis in 6 cases. CLSM imaging of Bowen′s disease lesions revealed disorderly arrangement of large, irregularly shaped atypical cells in some areas in the middle and lower epidermis, and infiltration of scattered mononuclear cells in the superficial dermis. Conclusion CLSM images of seborrheic keratosis are different from those of Bowen′s disease, and CLSM may be helpful for their differential diagnosis.

Objective To determine the normal range of minimal erythema dose (MED) for ultraviolet A (UVA) and B (UVB) in volunteers from Urumqi region.Methods One hundred and twenty-seven volunteers including healthy subjects and patients with noninflammatory skin disorders were enrolled in this study.SUV-1000 type UV simulator was used as the light source to determine MED of UVA and UVB in these subjects.Results These subjects included 48 persons with Fitzpatrick skin type Ⅲ,79 with Fitzpatrick skin type Ⅳ,51 males and 76 females.The median MED value for UVA and UVB was 38.1 J/cm2 and 31.8 mJ/cm2 respectively in subjects with skin type Ⅲ,59.16 J/cm2 and 48.00 mJ/cm2 respectively in subjects with skin type Ⅳ.Significantly lower median MED values of UVA (both P ＜ 0.01) and UVB (both P ＜ 0.05) were observed in the male and female subjects with skin type Ⅲ compared with those with skin type Ⅳ.The male subjects showed a significantly higher median UVA-MED value (59.16 J/cm2 vs.41.10 J/cm2,P ＜ 0.05),but a similar UVB-MED value (39.60 mJ/cm2 vs.35.55 mJ/cm2,P ＞ 0.05) compared with the female subjects.No significant difference was observed in the median value of UVA-or UVB-MED in subjects with skin type Ⅲ or Ⅳ between Han and Uygur nationality (all P ＞ 0.05).Also,no correlation was found in the median value of UVA-or UVB-MED with age or duration of outdoor exposure in the male or female subjects (all P ＞ 0.05).The lower reference limit was 33.38 J/cm2 for UVA-MED and 27.90 mJ/cm2 for UVB-MED in the population in Urumqi region.Conclusion Skin phototype may be an important determinant of MED.

Objective To assess the relationship between BRAF gene mutations and clinical phenotype of malignant melanoma.Methods Tissue specimens were collected from the lesions of 80 patients with malignant melanoma,and from the normal skin of 30 patients with trauma in the Department of Plastic Surgery or General Surgery,and subjected to paraffin embedding and DNA extraction.PCR was performed to amplify the exon 11 and 15 of BRAF gene followed by DNA sequencing.Chi-square test and Fisher's exact test were carried out to assess the relationship between BRAF gene mutations and clinical phenotypes of malignant melanoma.Results BRAF gene mutations were found in 19 (23.8％) of the 80 malignant melanoma specimens.Among the 19 mutationpositive specimens,17 (88.2％) carried mutations in exon 15 of BRAF gene with V600E as the most frequent (88.2％,15/17) mutation type,and 2 (10.5％) carried mutations in exon 11.No mutation was found in any of the normal skin tissue specimens.The average age at onset was 57.5 years in these patients.The frequency of BRAF gene mutation was significantly higher in patients younger than 60 years than in those older than 60 years (37.1％ vs.13.3％,x2=6.613,P ＜ 0.05).A significant difference was observed in the frequency of BRAF gene mutation among tissue specimens of mueosal,acral and non-aeral malignant melanoma (18.2％ (4/21) vs.14.7％(5/34) vs.41.7％ (10/24),x2=6.167,P ＜ 0.05).There was no significant association between BRAF gene mutation and gender,race or lymph node metastasis (all P ＞ 0.05).Conclusions BRAF gene is a hot spot for mutations in patients with malignant melanoma in Xinjiang Uygur Autonomous Region,with V600E point mutation in exon 15 as the most frequent mutation type.BRAF gene mutations appear to be closely correlated with the age at onset of and lesional sites in,but uncorrelated with gender and race of or lymph node metastasis in,patients with malignant melanoma.

Objective To investigate clinical manifestations,morphological characteristics of skin lesions,and histopathological features of cutaneous Rosai-Dorfman disease (CRDD).Methods Basic information and clinical data were collected from 20 patients with CRDD.According to the morphological characteristics,the skin lesions were classified into different types,and then subjected to histopathological examination and immunohistochemical staining.Results Of the 20 patients with CRDD,11 had multiple lesions,and 9 had solitary lesions.Skin lesions involved single anatomical site in 16 patients,multiple anatomical sites in 4 patients,and there were a total of 24 involved anatomical sites.Skin lesions on the 24 sites were divided into 3 main types,including papulonodular type (10/24,41.67％),infiltrating plaque type (12/24,50.00％) and tumor-like type (2/24,8.33％).Of the 20 patients,6 had mixed-type skin lesions,including 5 with papulonodular-type lesions complicated by infiltrating plaque-type lesions,and 1 with infiltrating plaque-type lesions complicated by tumor-like lesions.There were similar histopathological manifestations of skin lesions among the 24 involved anatomical sites.Concretely speaking,varying numbers of large histiocytes were scattered or distributed in sheets in the dermis and/or subcutaneous adipose tissue,with infiltration of plenty of inflammatory cells,mainly lymphocytes and plasma cells.Moreover,varying numbers of lymphocytes and neutrophils were observed in the cytoplasm of histiocytes.Immunohistochemically,these histiocytes were stained positive for S100 and CD68,but negative for CD1a.At 17 anatomical sites,lesions affected the full-thickness dermis,and the subcutaneous adipose tissues were involved at 13 of 17 sites.Of the 24 involved anatomical sites,lesions only affected the superficial to middle dermis at 6 sites,and affected the deep dermis and subcutaneous adipose tissue at 1 site.There were no obvious differences in the extent of lesion involvement and pattern of inflammatory infiltration among different morphological types of skin lesions.Conclusions CRDD mainly manifests as papulonodular-type and infiltrating plaque-type lesions,and tumor-like lesions are rare.Histopathologically,varying numbers of emperipoletic histiocytes can be observed in lesions of different types.

Objective To evaluate the effect of local flaps on repair of defects after surgical removal of nasal skin tumors.Methods A total of 65 patients with nasal skin tumors were enrolled from Department of Dermatology,People's Hospital of Xinjiang Uygur Autonomous Region between March 2015 and August 2016,and subjected to surgical removal of the nasal skin tumors.According to the location,size,shape and surrounding skin of the nasal defects,nasolabial fold flaps,modified rhomboid flaps,bilobed flaps or frontal nasal flaps were chosen to repair skin and soft tissue defects.Results Of the 65 patients with nasal skin tumors,38 had basal cell carcinoma,20 pigmented nevus,5 keratoacanthoma,and 2 had squamous cell carcinoma.The lengths of the defects after resection were all below 2.5 cm.Nasolabial fold flaps were used in 32 cases,modified rhomboid flaps in 16,bilobed flaps in 12,and frontal nasal flaps in 5.All the flaps survived after the surgery,and no obvious deformation of the nose was observed.No recurrence was observed during 1 year of follow-up.Conclusion For skin defects with the length ≤ 2.5 cm after resection of nasal skin tumors,nasolabial fold flaps,modified rhomboid flaps,bilobed flaps and frontal nasal flaps can be used to repair wounds,with satisfactory efficacy.

Objective:To analyze the clinical features and reflectance confocal microscopy (RCM) characteristics of vulvar lichen sclerosus (VLS).Methods:RCM examination was carried out in 34 patients who were preliminarily diagnosed as VLS in People's Hospital of Xinjiang Uygur Autonomous Region from January 2018 to June 2019, the results of the various indicators were recorded, and then a histopathological examination was performed at the same site.The RCM image characteristics were analyzed against histopathological manifestations, after that the results were compared and calculated the consistency rate of these image features.Results:The RCM image features of 28 patients with VLS were as follows: the thickness of spinous layer of lesion was thinner than that of surrounding normal skin (epidermis atrophy) in 21 cases (75%); hyper reflectance in basal layer was decreased in 21 cases (75%); In 16 (57.14%)cases, the basal cell ring was absent at the junction of the epidermis, the boundary was blurred, and the infiltration of mononuclear cells and scattered round like large cells in the superficial dermis (liquefaction and degeneration of basal cells); 28 cases (100%) had increased refractive index of superficial dermis (collagen homogenization). The coincidence rates with histopathological examination were 89.29%, 92.86%, 85.71% and 100%, respectively. The sensitivity and specificity of the increase of refractive index in the superficial dermis were the highest, reaching 96.53% and 62.35%. The highest specificity was 92.82% in the presence of epidermal atrophy and the increase of refractive index of superficial dermis.Conclusions:The RCM images of VLS were highly consistent with the histopathological examination.It also has high sensitivity and specificity.Combined with clinical manifestations, it can provide effective help for the diagnosis of vulvar lichen sclerosus and the judgment of therapeutic efficacy.

Objective:To investigate associations between clinicopathological characteristics and mutations in susceptibility genes in cutaneous melanoma (CMM) .Methods:A total of 94 patients with confirmed CMM were collected from People′s Hospital of Xinjiang Uygur Autonomous Region from January to December in 2019, and their clinical and histopathological characteristics were retrospectively analyzed. In 48 paraffin-embedded melanoma tissue specimens, Sanger sequencing was performed to detect mutations in the BRAF, NRAS, c-KIT genes and the promoter region of human telomerase reverse transcriptase (hTERT) gene, and the association between gene mutations and clinicopathological characteristics was analyzed. Measurement data were compared using t test, and enumeration data were compared using chi-square test or Fisher′s exact test. Results:Among the 94 patients with CMM, there were 46 (48.9%) males and 48 (51.1%) females, with the age being 58.5 ± 16.0 years; 41 (43.6%) patients were of Han nationality, and 53 (56.4%) were of ethnic minorities. Skin lesions were located at the acral sites in 50 (53.2%) patients, including 27 (28.7%) of Han nationality; non-acral skin lesions occurred in 44 (46.8%) , including 14 (31.8%) of Han nationality; there was a significant difference in the nationality distribution between the acral CMM group and non-acral CMM group ( χ2 = 5.25, P = 0.022) . Histopathological examination showed CMM of Clark grades Ⅳ or Ⅴ in 41 (43.6%) cases, ulcers in 52 (55.3%) cases, and lymph node metastasis in 32 (34.04%) cases at the first clinic visit. Gene sequencing revealed BRAF gene mutations in 11 (22.9%) of 48 cases, including c.1799 T>A (p.V600E) , c.1790 T>A (p.L597Q) and c.1394 C>T (p.S465F) ; NRAS gene mutation c.182 A>G (p.Q61R) was identified in 5 (10.4%) cases; c-KIT gene mutations were identified in 6 (12.5%) cases, including c.1727 T>C (p.L576P) and c.1669 T>C (p.W557R) ; mutations in the promoter region of hTERT gene were identified in 7 (14.6%) cases, including 4 cases with a mutation at 124 bp upstream of the ATG start codon (C228T) and 3 cases with a mutation at 146 bp upstream of the ATG start codon (C250T) . Among 26 patients aged < 60 years, BRAF gene mutations were found in 9, and the incidence of BRAF gene mutations was significantly higher in the patients aged < 60 years than in those aged ≥ 60 years (2/22, P < 0.05) , but significantly lower in the patients with acral CMM (3/27) than in those with non-acral CMM (8/21, P < 0.05) ; the incidences of the NRAS, c-KIT and hTERT gene mutations were all significantly higher in the patients with lymph node metastases (3/10, 4/10, 4/10, respectively) than in those without (2/38, 2/38, 3/38, respectively, all P < 0.05) . Conclusion:CMM lesion locations significantly differed among different ethnic groups; the BRAF gene mutation was associated with the age of patients and lesion locations of CMM; NRAS, c-KIT gene mutations and hTERT promoter mutations were closely related to lymph node metastasis.

Objective    To investigate the clinical feasibility and safety of uniportal video-assisted thoracoscopic surgery (VATS) without chest tube in enhanced recovery thoracic surgery. Method    The clinical data of patients with pulmonary bulla, pulmonary nodules and mediastinal tumors who underwent uniportal VATS in Department of Thoracic Surgery in the Affiliated Hospital of Inner Mongolia Medical University between January 2015 to May 2018 were retrospectively analyzed. A total of 78 patients did not receive closed thoracic drainage tube (a tube-free group), including 30 males and 48 females aged 32.5±8.3 years, 92 patients closed thoracic drainage tube after operation (a control group), including 38 males and 54 females aged 31.4±13.6 years. The surgery-related indicators, postoperative complications and visual analogue score (VAS) were compared between the two groups. Results    The time of early ambulation and hospital stay after operation in the tube-free group (1.0±0.3 d, 3.3±0.7 d) were significantly shorter than those in the control group (1.8±0.6 d, 5.2±0.8 d) (P=0.000, P=0.000). The VAS pain scores on the first, second and third day after operation in the tube-free group (4.5±1.8, 3.6±2.4, 2.5±1.4) were also significantly lower than those in the control group (6.8±2.2, 5.7±2.9, 3.9±1.2) (P=0.000, P=0.000, P=0.000). Operation time and intraoperative blood loss in the tube-free group (55.3±12.2 min, 21.5±5.1 mL) and the control group (57.1±6.5 min, 22.2±3.5 mL) were not statistically different (P=0.220, P=0.146). There was no pulmonary infection in both groups, and the wound healing rate was 100.0%. There was no significant difference in pneumothorax, pleural effusion, arrhythmia and re-insertion of chest drain between the tube-free group (5 patients, 8 patients, 1 patient, 3 patients) and the control group (1 patient, 4 patients, 2 patients, 1 patient, P=0.145, P=0.134, P=0.885, P=0.499). Conclusion    In strictly screened patients undergoing uniportal thoracoscopic surgery, no thoracic closed drainage tube can relieve postoperative pain, promote early ambulation activities and enhanced recovery of patients.