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Fascin, cortactin and survivin expression of melanocytic neoplasms and association with clinicopathological parameters and anatomic locations in Chinese people.

Distinct genetic aberrations between melanomas in different anatomical locations have been confirmed in recent years. However, the associations between immunohistochemical expression, tumor sites, and clinical parameters are not clear. We examined the correlation of protein expression of fascin, cortactin and survivin with clinicopathological parameters and lesion locations in patients with cutaneous melanoma. We collected 170 melanocytic lesions, including 106 cutaneous malignant melanoma (MM) from acral (AM) and non-acral (NAM) sites, 24 dysplastic nevi (DN), and 40 common melanocytic nevi (

Aggressive management of orbital meningeal melanocytoma.

OBJECTIVE: Meningeal melanocytoma generally occurs in the posterior fossa. Orbital manifestation is rarely encountered. METHODS: A thirty-five year-old man presented with progressive proptosis of his right eye. Computed tomography (CT) and Magnetic Resonance Imaging (MRI) of the brain showed an expansive intraconal mass lesion occupying the superior orbital compartment, the entire orbital apex, and the optic foramen. Histological analysis and Immunohistochemical staining for S-100 and HMB-45 monoclonal antibodies confirmed melanocytoma. FINDINGS: Microsurgical removal was accomplished throug

[Dubreuilh melanoma: and epidemiologic and prognostic study].

BACKGROUND: Lentigo maligna melanoma is a specific histoclinical type of melanoma. We studied the epidemiologic features of lentigo maligna melanoma (Dubreuilh's melanoma) and compared prognosis with other types of melanoma. PATIENTS AND METHODS: A retrospective review of 516 cases of cutaneous melanomas, seen from 1985 to 1997, identified 29 cases of lentigo maligna melanoma. Epidemiologic, clinical and prognostic data were collected using a common scoring system for all patients. The chi-squared test, univariate log rank analysis, Cox multiple regression model for multivariate analysis, and

Molecular analysis of melanoma precursor lesions.

Atypical (dysplastic) nevi are melanocytic lesions, which are precursors of melanoma as well as markers of increased melanoma risk. Although these lesions exhibit distinct clinical and histological features, their molecular features are largely unknown. To determine whether atypical, compared to benign nevi, from patients with a clinical history of malignant melanoma reveal molecular changes, we analyzed these lesions for the expression of two growth factors (basic fibroblast growth factor and transforming growth factor alpha), their receptors (fibroblast growth factor receptor-1 and epidermal

Swimming and the risk of cutaneous melanoma.

Recreational exposure to the sun may not explain fully current trends in melanoma incidence. The hypothesis was examined whether carcinogens in water play a role in the development of cutaneous melanoma. In a case-control study, 128 melanoma patients and 168 patients with other types of malignancy completed a detailed questionnaire on aquatic leisure time activities. All relative risk estimates were adjusted for age, gender, educational level, pigmentation characteristics, and exposure to sun habits. Regular swimming during the summer months in swimming pools and in open waters such as rivers

Hereditary ovarian tumour syndromes: current update on genetics and imaging.

Hereditary ovarian tumour syndromes are a diverse group of hereditary syndromes characterised by the development of specific histotypes of ovarian neoplasms. While BRCA syndromes are exclusively associated with high-grade serous carcinomas, patients with Lynch syndrome show a preponderance of endometrioid subtype of ovarian and endometrial carcinomas. Distinct non-epithelial phenotypes, such as sex cord stromal tumours with annular tubules, Sertoli-Leydig cell tumours, and small cell carcinoma of the hypercalcaemic type occur in patients with Peutz-Jeghers, DICER1, and rhabdoid tumour predispo

Neurodevelopmental Aspects of RASopathies.

RAS gene mutations are frequently found in one third of human cancers. Affecting approximately 1 in 1,000 newborns, germline and somatic gain-of-function mutations in the components of RAS/mitogen-activated protein kinase (RAS/MAPK) pathway has been shown to cause developmental disorders, known as RASopathies. Since RAS-MAPK pathway plays essential roles in proliferation, differentiation and migration involving developmental processes, individuals with RASopathies show abnormalities in various organ systems including central nervous system. The frequently seen neurological defects are developm

Cutaneous sebaceous tumours and Lynch syndrome: long-term follow-up of 60 patients.

BACKGROUND: Sebaceous neoplasms (SN) may appear sporadically in the general population but may also be part of the Muir-Torre variant of Lynch syndrome (MT-LS). There are few studies in southern Europe on the incidence of MT-LS in the population of patients with SN. AIM: To retrospectively review patients with SN and to analyse their clinical features and the incidence of MT-LS. METHODS: Patients with SN diagnosed between 1995 and 2015 were enrolled in the study. The diagnosis of MT-LS was made according to established clinical criteria and, whenever possible, was confirmed by germline mutat

A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.

Facial pigmented spots are a common skin aging feature, but genetic predisposition has yet to be thoroughly investigated. We conducted a genome-wide association study for pigmented spots in 2,844 Dutch Europeans from the Rotterdam Study (mean age: 66.9±8.0 years; 47% male). Using semi-automated image analysis of high-resolution digital facial photographs, facial pigmented spots were quantified as the percentage of affected skin area (mean women: 2.0% ±0.9, men: 0.9% ±0.6). We identified genome-wide significant association with pigmented spots at three genetic loci: IRF4 (rs12203592, P=1.8 × 10

Molecular pathology of skin neoplasms of the head and neck.

CONTEXT: Skin neoplasms include the most common malignancies affecting humans. Many show an ultraviolet (UV)-induced pathogenesis and often affect the head and neck region. OBJECTIVE: To review literature on cutaneous neoplasms that show a predilection for the head and neck region and that are associated with molecular alterations. DATA SOURCES: Literature review. CONCLUSIONS: Common nonmelanoma skin cancers, such as basal and squamous cell carcinomas, show a UV-induced pathogenesis. Basal cell carcinomas are characterized by molecular alterations of the Hedgehog pathway, affecting patched

Atypical familial presentation of FAMMM syndrome with a high incidence of pancreatic cancer: case finding of asymptomatic individuals by EUS surveillance.

BACKGROUND: Pancreatic cancer (PC) is one of the leading causes of cancer death in Western countries. An increased risk for PC is known in a number of hereditary tumor syndromes. In selected individuals at high risk of developing PC, surveillance of the pancreas might be able to detect premalignant lesions and early invasive cancers, and probably improve survival. METHODS: In a Dutch family with atypical phenotypic presentation of the familial atypical multiple mole melanoma syndrome with high incidence of PC related to a mutation in the CDKN2A gene, pancreatic surveillance was offered to asy

[What's new in pediatric dermatology?].

The literature review for 2009 covers the principal themes of the speciality and brings new findings in the fields of pathophysiology, clinical features, therapeutical approaches. With regards to atopic dermatitis, we noticed new studies on potential inducing factors (breastfeeding, probiotics, food, vitamins, prematurity, Staphylococcus aureus and constipation). There are also new data on therapy using tacrolimus. With regards to vascular anomalies and especially haemangiomas, the literature comprises new data on evolution and efficacy of propranolol. With regards to congenital nevi, there ar

Bim expression is reduced in human cutaneous melanomas.

Bim is a BH3-only protein belonging to the Bcl-2 family of apoptotic regulators. Upon activation, Bim can antagonize all the prosurvival Bcl-2 proteins, leading to apoptosis. To investigate whether Bim plays a role in melanoma progression, we used tissue microarray and immunohistochemistry to measure Bim expression in 52 cases of dysplastic nevi, 159 cases of primary melanomas and 52 cases of melanoma metastases, and evaluated the prognostic value of Bim expression. Our results showed that Bim expression is reduced as melanoma progresses. Significant differences for Bim staining pattern were o

Examine your orofacial cleft patients for Gorlin-Goltz syndrome.

The Gorlin-Goltz syndrome is characterized by four primary symptoms: multiple nevoid basal cell epitheliomas that usually undergo malignant transformation; jaw keratocysts that show constant growth; skeletal anomalies; and intracranial calcifications. A myriad of additional findings may also be noted. Among the most frequent are: palmar and plantar pits, a characteristic flattened facies and broad nasal root, frontal and parietal bossing, mandibular prognathia, hypertelorism, strabismus, dystrophia of the canthi, and clefts of the lip, alveolus, and/or palate. In this study, we review the lite

Identification of Potentially Pathogenic Variants Associated with Recurrence in Medication-Related Osteonecrosis of the Jaw (MRONJ) Patients Using Whole-Exome Sequencing.

Background: Bisphosphonates are antiresorptive and antiangiogenic drugs that prevent and treat bone loss and mineralization in women with postmenopausal osteoporosis and cancer patients. Medication-related osteonecrosis of the jaw (MRONJ) is commonly caused by tooth extraction and dental trauma. Although genetic and pathological studies about MRONJ have been conducted, the pathogenesis of MRONJ still remains unclear. Methods: We aimed to identify genetic variants associated with MRONJ, using whole-exome sequencing (WES). Ten MRONJ patients prescribed bisphosphonates were recruited for WES, and

Совпадение в полном тексте источника
… Mutation of keratin 4 gene causing white sponge nevus in a Japanese family. Int. J. Oral Maxillofac. Surg. 2013;42:615–618. doi: 10.1016/j.ijom.2012.10.030. 45. Cai W., Chen Z., Jiang B., Yu F., Xu P., Wang M., Wan R., Liu J., Xue Z., Yang J., et al. … Keratin 13 mutations associated with oral white sponge nevus in two Chinese families. Meta Gene. 2014;2:374–383. doi: 10.1016/j.mgene.2014.04.008. 46. Tao G.Z., Looi K.S., Toivola D.M., Strnad P., Zhou Q., Liao J., Wei Y., Habtezion A., Omary M.B. …

Porokeratoses-A Comprehensive Review on the Genetics and Metabolomics, Imaging Methods and Management of Common Clinical Variants.

Porokeratosis is a heterogeneous group of keratinising disorders characterised by the presence of particular microscopic structural changes, namely the presence of the cornoid lamella. This structure develops as a consequence of a defective isoprenoid pathway, critical for cholesterol synthesis. Commonly recognised variants include disseminated superficial actinic porokeratosis, disseminated superficial porokeratosis, porokeratosis of Mibelli, palmoplantar porokeratosis (including porokeratosis palmaris et plantaris disseminata and punctate porokeratosis), linear porokeratosis, verrucous porok

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… Less frequent clinical variants, including follicular porokeratosis (FP), porokeratoma, porokeratotic eccrine ostial and dermal duct nevus, porokeratotic eccrine duct and hair follicle nevus, have also been described [ 1 , 5 , 6 , 7 , 8 , 9 , 10 , 11 ]. … A cornoid lamella may also be present in actinic keratosis and porokeratotic eccrine ostial and dermal ductal nevus, yet the former shows epidermal cytologic atypia, and the latter involves acrosyringia within the parakeratotic column [ 435 , 442 ]. …

Prognostic significance of Fbw7 in human melanoma and its role in cell migration.

The E3 ubiquitin ligase Fbw7 (F-box and WD repeat domain-containing 7) is broadly considered as a tumor suppressor because of its role in the turnover of several well-known oncoproteins. However, the role of Fbw7 in melanomagenesis is not clear. To investigate the expression profile and biological functions of Fbw7 in melanoma, we examined Fbw7 expression level using melanoma tissue microarray and immunohistochemistry. Our data showed that Fbw7 expression is significantly reduced in primary melanoma compared with dysplastic nevi (P=0.020) and further reduced in metastatic melanoma compared wit

Expression and possible role of hPTTG1/securin in cutaneous malignant melanoma.

Human pituitary tumour-transforming gene 1 or hPTTG1 is a proto-oncogene that codes for securin, a protein involved in sister chromatid separation. Based on previous microarray data, we studied the expression of hPTTG1/securin in melanocytic lesions. In contrast to nevi and radial growth phase melanomas, securin was expressed by scattered cells in the vertical growth phase, suggesting a role in tumour progression. In a series of 29 nodular and 29 superficial spreading melanomas, matched for all histological prognostic parameters, securin expression was significantly correlated with the nodular