BMC Dermatology最新文献

{"title":"Can an app supporting psoriasis patients improve adherence to topical treatment? A single-blind randomized controlled trial.","authors":"Mathias Tiedemann Svendsen,&nbsp;Flemming Andersen,&nbsp;Kirsten Hammond Andersen,&nbsp;Klaus Ejner Andersen","doi":"10.1186/s12895-018-0071-3","DOIUrl":"https://doi.org/10.1186/s12895-018-0071-3","url":null,"abstract":"<p><strong>Background: </strong>Topical corticosteroid or corticosteroid/calcipotriol preparations are recommended first-line topical treatments of psoriasis, but a main cause for the lack of efficacy of topical treatments is considered low rates of adherence to topical drugs. Patient support by the use of applications (apps) for smartphones is suggested to improve medical adherence.</p><p><strong>Methods/design: </strong>Design: An investigator-initiated, single-center, single-blind, parallel-group, phase-4 clinical superiority randomized controlled trial (RCT).</p><p><strong>Participants: </strong>134 patients 18 to 75 years of age with mild-to-moderate psoriasis, who are capable of reading English language, own a smartphone, and are candidates for the study drug calcipotriol and betamethasone dipropionate (Cal/BD) cutaneous foam once daily prn (pro re nata).</p><p><strong>Intervention: </strong>A 28-day adherence-supporting app providing compulsory daily treatment reminders that pop-up on the smartphone screen with a short alert sound. The app synchronizes through Bluetooth® to an electronic monitor (EM) attached to the medication canister. The EM contains a chip registering the amount of foam, day and time the patient use the foam dispenser. The information is displayed in a diary that shows the amount of Cal/BD cutaneous foam used and the number of applied treatment sessions. The app has an optional diary with the patient's rating of symptoms. Non-intervention: Use of Cal/BD cutaneous foam and EM without the app. All participants are prescribed Cal/BD cutaneous foam prn for the entire study period. Primary outcome obtained in week 4: rates of adherence measured by patient report, weight of medication canisters, and number of treatment sessions measured by the EM. Secondary outcomes obtained at baseline, weeks 4, 8, and 26: Lattice System Physician's Global Assessment (LS-PGA) and Dermatology Quality of Life Index (DLQI).</p><p><strong>Discussion: </strong>This trial tests of whether an app can improve rates of adherence to a topical antipsoriatic drug. If the app improves rates of adherence and reduces the burden of psoriasis in a clinically significant way, the app could easily be implemented as a standard routine of care in the clinic.</p><p><strong>Trial registration: </strong>NCT02858713 , registered on August 3, 2016. EudraCT number 2016-002143-42.</p>","PeriodicalId":9014,"journal":{"name":"BMC Dermatology","volume":"18 1","pages":"2"},"PeriodicalIF":0.0,"publicationDate":"2018-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12895-018-0071-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35805913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.","authors":"Zoe Argyropoulou,&nbsp;Lu Liu,&nbsp;Linda Ozoemena,&nbsp;Claudia C Branco,&nbsp;Raquel Senra,&nbsp;Ângela Reis-Rego,&nbsp;Luisa Mota-Vieira","doi":"10.1186/s12895-018-0069-x","DOIUrl":"https://doi.org/10.1186/s12895-018-0069-x","url":null,"abstract":"<p><strong>Background: </strong>Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282), which encodes plectin, a structural protein expressed in several tissues, including epithelia and muscle. We describe a patient affected with EBS-MD and diffuse alopecia in which we identified a novel pathogenic mutation by PCR amplification of all coding exons and exon-intron boundaries of PLEC gene, followed by bidirectional Sanger sequencing.</p><p><strong>Case presentation: </strong>The patient, a 28-year-old female and only child of consanguineous healthy parents, was born after uneventful pregnancy. At 2 days of age, she developed skin and oral mucosal blistering, accompanied by voice hoarseness. On physical examination as an adult, we observed diffuse non-scarring alopecia on the scalp, onychodystrophy (pachyonychia) in all 20 nails, dental decay, mild dysphonia, and severe muscle atrophy mainly affecting the extremities. Neurological examination showed profoundly diminished reflexes. Mutation analysis revealed the patient to be homozygous for the novel PLEC nonsense mutation - c.7159G > T (p.Glu2387*) - located in exon 31. Thismutation predicts the lack of expression of the full-length plectin isoform.</p><p><strong>Conclusion: </strong>The present case appears to be the second association of EBS-MD with diffuse alopecia, both cases having different mutations involving PLEC exon 31. It remains to be elucidated whether diffuse alopecia results from PLEC mutations and/or from environmental factors.</p>","PeriodicalId":9014,"journal":{"name":"BMC Dermatology","volume":"18 1","pages":"1"},"PeriodicalIF":0.0,"publicationDate":"2018-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12895-018-0069-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35753635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case report of erythroderma in a patient with borderline leprosy on reversal reaction: a result of the exacerbated reaction?","authors":"Denis Miyashiro,&nbsp;Ana Paula Vieira,&nbsp;Maria Angela Bianconcini Trindade,&nbsp;João Avancini,&nbsp;José Antonio Sanches,&nbsp;Gil Benard","doi":"10.1186/s12895-017-0068-3","DOIUrl":"https://doi.org/10.1186/s12895-017-0068-3","url":null,"abstract":"<p><strong>Background: </strong>Erythroderma is characterized by erythema and scaling affecting more than 90% of the body surface area. Inflammatory, neoplastic and, more rarely, infectious diseases may culminate with erythroderma. Diagnosis of the underlying disorder is therefore crucial to institute the appropriate therapy. Leprosy is a chronic infectious disease that is endemic in Brazil. Here we present an unusual case of leprosy and reversal reaction causing erythroderma, and we discuss the underlying immunological mechanisms which could contribute to the generalized skin inflammation.</p><p><strong>Case presentation: </strong>We report a case of a patient with reversal reaction (RR) in borderline borderline leprosy presenting with erythroderma and neural disabilities. Histopathology of the skin showed regular acanthosis and spongiosis in the epidermis and, in the dermis, compact epithelioid granulomas as well as grouped and isolated bacilli. This duality probably reflects the transition from an anergic/multibacillary state to a state of more effective immunity and bacillary control, typical of RR. Leprosy was successfully treated with WHO's multidrug therapy, plus prednisone for controlling the RR; the erythroderma resolved in parallel with this treatment. Immunologic studies showed in situ predominance of IFNγ + over IL-4+ lymphocytes and of IL-17+ over Foxp3+ lymphocytes, suggesting an exacerbated Th-1/Th-17 immunoreactivity and poor Th-2 and regulatory T-cell responses. Circulating Tregs were also diminished. We hypothesize that the flare-up of anti-mycobacteria immunoreactivity that underlies RR may have triggered the intense inflammatory skin lesions that culminated with erythroderma.</p><p><strong>Conclusions: </strong>This case report highlights the importance of thorough clinical examination of erythrodermic patients in search for its etiology and suggests that an intense and probably uncontrolled leprosy RR can culminate in the development of erythroderma.</p>","PeriodicalId":9014,"journal":{"name":"BMC Dermatology","volume":"17 1","pages":"16"},"PeriodicalIF":0.0,"publicationDate":"2017-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12895-017-0068-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35675174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Composite hemangioendothelioma of the forehead and right eye; a case report.","authors":"Ghasem Rahmatpour Rokni,&nbsp;Fatemeh Montazer,&nbsp;Mahnaz Sharifian,&nbsp;Mohamad Goldust","doi":"10.1186/s12895-017-0067-4","DOIUrl":"https://doi.org/10.1186/s12895-017-0067-4","url":null,"abstract":"<p><strong>Background: </strong>Hemangioendothelioma includes several types of vascular neoplasms , as well as both benign and malignant growth.</p><p><strong>Case presentation: </strong>This study evaluated a case of a 78-year-old female diagnosed with composite hemangioendothelioma (CHE). This patient had an 18-month history of painless inflammatory lesions and erythema on the left forehead and right upper eyelid. The clinical and pathologic characteristics of the CHE were evaluated in the present study.</p><p><strong>Conclusion: </strong>The evidence of the coexistence of variable components of the CHE in our study emphasized the importance of distinctive morphology and biology, and should be considered in the differential diagnosis of other vascular lesions.</p>","PeriodicalId":9014,"journal":{"name":"BMC Dermatology","volume":"17 1","pages":"15"},"PeriodicalIF":0.0,"publicationDate":"2017-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12895-017-0067-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35245184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of the effects of skin microneedling as adjuvant therapy for facial melasma: a pilot study.","authors":"Emerson V A Lima,&nbsp;Mariana Modesto D A Lima,&nbsp;Mauricio Pedreira Paixão,&nbsp;Hélio Amante Miot","doi":"10.1186/s12895-017-0066-5","DOIUrl":"https://doi.org/10.1186/s12895-017-0066-5","url":null,"abstract":"<p><strong>Background: </strong>Melasma is a common chronic and relapsing acquired dyschromia. Skin microneedling was reported resulting sustained long-term improvement of recalcitrant melasma, however, the exact mechanism that promotes this skin lightening is not known. This study aimed to investigate clinical and histologic alterations promoted by skin microneedling in facial melasma.</p><p><strong>Methods: </strong>Open pilot trial including six women with facial refractory melasma submitted to two sessions of microneedling (1.5 mm) each 30 days followed by daily triple combination and broad-spectrum sunscreen. Comparison of pretreatment (T0) and 15 days after last microneedling procedure (T45) was made by standardized pictures, skin colorimetry, MASI, MELASQoL and histological parameters (haematoxylin-eosin, picrosirius-red, periodic acid Schiff and Fontana-Masson staining).</p><p><strong>Results: </strong>The age of the subjects varied from 34 to 46 years-old, the phototypes were III and IV (Fitzpatrick), and age of melasma onset was 20 to 38 years. Improvement of melasma was perceived in all subjects. There was a significant reduction of MASI score (-70%), MELASQoL (-55%) and increase in L* (+13%) colorimetric value (p < 0.03). All cases evidenced epithelium thickening, decrease in melanin pigmentation and densification of upper dermis collagen (p = 0.03). Patients were followed by 6 months under broad-spectrum sunscreen and triple combination without relapse.</p><p><strong>Conclusion: </strong>In addition to classic treatment (broad-spectrum sunscreen and triple combination), skin microneedling promoted clinical and histological improvement of refractory facial melasma.</p>","PeriodicalId":9014,"journal":{"name":"BMC Dermatology","volume":"17 1","pages":"14"},"PeriodicalIF":0.0,"publicationDate":"2017-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12895-017-0066-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35291001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"BAP1: case report and insight into a novel tumor suppressor.","authors":"Kanad Ghosh,&nbsp;Badri Modi,&nbsp;William D James,&nbsp;Brian C Capell","doi":"10.1186/s12895-017-0065-6","DOIUrl":"https://doi.org/10.1186/s12895-017-0065-6","url":null,"abstract":"<p><strong>Background: </strong>BRCA1-Associated-Protein 1 (BAP1) is a dynamic tumor suppressor which, when mutated, has been associated with an increased risk of uveal melanoma, cutaneous melanoma, mesothelioma, and several other cancers. Germline BAP1 mutations have been extensively studied, where they have been found to cause hereditary cancer susceptibility. However, their sporadic counterparts, tumors that display a loss of BAP1 expression due to somatically arising mutations in the BAP1 gene, remain a poorly described entity.</p><p><strong>Case presentation: </strong>Here we present the case of a 49-year-old female who presented with an asymptomatic dome-shaped pink papule on the dorsal foot which was found on biopsy to be deficient in the BAP1 tumor suppressor. While the patient's family history did not suggest the presence of a familial cancer syndrome, germline genetic testing was performed and was negative. The patient underwent surgical excision of this sporadically appearing \"BAPoma\" by Mohs surgery.</p><p><strong>Conclusions: </strong>Given the relatively banal clinical appearance of these dome-shaped neoplasms, sporadic BAPomas may often be overlooked by clinicians and dermatologists. In addition to providing a representative case, here we also provide a synopsis of the current understanding of these neoplasms, both in terms of the histopathological features, as well as the molecular mechanisms underlying BAP1 function and its ability to prevent tumorigenesis.</p>","PeriodicalId":9014,"journal":{"name":"BMC Dermatology","volume":"17 1","pages":"13"},"PeriodicalIF":0.0,"publicationDate":"2017-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12895-017-0065-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35636455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Daylight photodynamic therapy versus cryosurgery for the treatment and prophylaxis of actinic keratoses of the face - protocol of a multicenter, prospective, randomized, controlled, two-armed study.","authors":"E Kohl,&nbsp;M Koller,&nbsp;F Zeman,&nbsp;R-M Szeimies,&nbsp;W G Philipp-Dormston,&nbsp;W Prager,&nbsp;P A Gerber,&nbsp;S Karrer","doi":"10.1186/s12895-017-0064-7","DOIUrl":"https://doi.org/10.1186/s12895-017-0064-7","url":null,"abstract":"<p><strong>Background: </strong>Photodynamic therapy with daylight (DL-PDT) is efficacious in treating actinic keratosis (AK), but the efficacy of field-directed, repetitive DL-PDT for the treatment and prophylaxis of AK in photodamaged facial skin has not yet been investigated.</p><p><strong>Methods/design: </strong>In this multicenter, prospective, randomized, controlled, two-armed, observer-blinded trial, patients with a minimum of 5 mild-to-moderate AK lesions on photodamaged facial skin are randomly allocated to two treatment groups: DL-PDT with methyl aminolevulinate (MAL) and cryosurgery. In the DL-PDT group (experimental group), 5 treatments of the entire face are conducted over the course of 18 months. After preparation of the lesion and within 30 min after MAL application, patients expose themselves to daylight for 2 h. In the control group, lesion-directed cryosurgery is conducted at the first visit and, in the case of uncleared or new AK lesions, also at visits 2 to 5. The efficacy of the treatment is evaluated at visits 2 to 6 by documenting all existing and new AK lesions in the face. Cosmetic results and improvement of photoaging parameters are evaluated by means of a modified Dover scale. Primary outcome parameter is the cumulative number of AK lesions observed between visits 2 and 6. Secondary outcome parameters are complete clearance of AK, new AK lesions since the previous visit, cosmetic results independently evaluated by both patient and physician, patient-reported pain (visual analogue scale), patient and physician satisfaction scores with cosmetic results, and patient-reported quality of life (Dermatology Life Quality Index). Safety parameters are also documented (adverse events and serious adverse events).</p><p><strong>Discussion: </strong>This clinical trial will assess the efficacy of repetitive DL-PDT in preventing AK and investigate possible rejuvenating effects of this treatment. (Trial registration: ClinicalTrials.gov Identifier: NCT02736760).</p><p><strong>Trial registration: </strong>ClinicalTrials.gov Identifier: NCT02736760 . Study Code Daylight_01. EudraCT 2014-005121-13.</p>","PeriodicalId":9014,"journal":{"name":"BMC Dermatology","volume":"17 1","pages":"12"},"PeriodicalIF":0.0,"publicationDate":"2017-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12895-017-0064-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35484869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rationale and Design of the Brigham Cohort for psoriasis and psoriatic arthritis registry (COPPAR).","authors":"Maria Schneeweiss,&nbsp;Joseph F Merola,&nbsp;Elizabeth W Karlson,&nbsp;Daniel H Solomon","doi":"10.1186/s12895-017-0063-8","DOIUrl":"https://doi.org/10.1186/s12895-017-0063-8","url":null,"abstract":"<p><strong>Background: </strong>Psoriasis (PsO) and psoriatic arthritis (PsA) are related conditions with poorly defined transition among them, risk factors for progression, complex treatment algorithms, and biomarkers for treatment response and long-term outcomes. We describe the development of a PsO/PsA registry at an academic medical center.</p><p><strong>Methods: </strong>We developed a single-center PsO/PsA longitudinal disease registry including biorepository that captures relevant disease markers and treatment choices in a circumscribed population with a defined catchment area. We searched the electronic medical record for patients with visits in the last year for PsO or PsA. They formed the potentially eligible registry population. Baseline patient and provider questionnaires were developed using standardized measures, including demographics, comorbidities, medications, specific disease characteristics, functional status, quality of life, mental health, and resource use. An abbreviated set of items was collected every six month and at visits with treatment changes or disease flares. Biospecimens included blood (serum, plasma, DNA, RNA) and skin biopsy samples, with repeat collections of serum and plasma. Data from the EMR to augment the registry questionnaires are available on all patients.</p><p><strong>Discussion: </strong>Searching the Brigham EMR system from 2013 through 2014, we found 1694 patients with PsO and 1028 with PsA. Their mean age was 55 years and 53% were female. Of these 17% had diabetes, 38% hyperlipidemia, and 45% hypertension. The median BMI was 29.6. PsA patients used more systemic prednisone, MTX, and TNF alpha inhibitors (47%, 60%, and 66%) compared to PsO patients (28%, 20% and 21%). We have collected plasma in 410 patients, DNA/RNA in 453 patients. In conclusion, we have developed a PsO/PsA registry to better define longitudinal disease characteristics, perform biomarker studies, and examine treatment trends.</p>","PeriodicalId":9014,"journal":{"name":"BMC Dermatology","volume":"17 1","pages":"11"},"PeriodicalIF":0.0,"publicationDate":"2017-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12895-017-0063-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35275244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of head lice infestation and pediculicidal effect of permethrine shampoo in primary school girls in a low-income area in southeast of Iran.","authors":"Moussa Soleimani-Ahmadi,&nbsp;Seyed Aghil Jaberhashemi,&nbsp;Mehdi Zare,&nbsp;Alireza Sanei-Dehkordi","doi":"10.1186/s12895-017-0062-9","DOIUrl":"https://doi.org/10.1186/s12895-017-0062-9","url":null,"abstract":"<p><strong>Background: </strong>Head lice infestation is a common public health problem that is most prevalent in primary school children throughout the world, especially in developing countries including different parts of Iran. This study aimed to determine the prevalence and risk factors associated with head lice infestation and pediculicidal effect of 1% permethrin shampoo in primary schools girls of Bashagard County, one of the low socioeconomic areas in southeast of Iran.</p><p><strong>Methods: </strong>In this interventional study six villages with similar demographical situations were selected and randomly assigned into intervention and control areas. In each area 150 girl students aged 7-12 years were selected randomly and screened for head lice infestation by visual scalp examination. In intervention area, treatment efficacy of 1% permethrin shampoo was evaluated via re-examination for infestation after one, two, and three weeks. Pre-tested structured questionnaire was used to collect data on socio-demographic and associated factors of head lice infestation.</p><p><strong>Results: </strong>The prevalence of head lice infestation was 67.3%. There was significant association between head lice infestation and school grade, family size, parents' literacy, bathing facilities, frequency of hair washing, and use of shared articles (p < 0.05). The effectiveness of 1% permethrin shampoo for head lice treatment was 29.2, 68.9, and 90.3% after the first, second, and third weeks, respectively.</p><p><strong>Conclusion: </strong>The head lice infestation is a health problem in primary school girls of Bashagard County. Improvement of socioeconomic status and providing appropriate educational programs about head lice risk factors and prevention can be effective for reduction of infestation in this area.</p><p><strong>Trial registration: </strong>This trial has been registered and approved by Hormozgan University of Medical Sciences ethical committee (Trial No.764). Trial registration date: March 17 2014.</p>","PeriodicalId":9014,"journal":{"name":"BMC Dermatology","volume":"17 1","pages":"10"},"PeriodicalIF":0.0,"publicationDate":"2017-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12895-017-0062-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35194713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Variation of mutant allele frequency in NRAS Q61 mutated melanomas.","authors":"Zofia Hélias-Rodzewicz, Elisa Funck-Brentano, Nathalie Terrones, Alain Beauchet, Ute Zimmermann, Cristi Marin, Philippe Saiag, Jean-François Emile","doi":"10.1186/s12895-017-0061-x","DOIUrl":"10.1186/s12895-017-0061-x","url":null,"abstract":"<p><strong>Background: </strong>Somatic mutations of BRAF or NRAS activating the MAP kinase cell signaling pathway are present in 70% of cutaneous melanomas. The mutant allele frequency of BRAF V600E (M%BRAF) was recently shown to be highly heterogeneous in melanomas. The present study focuses on the NRAS Q61 mutant allele frequency (M%NRAS).</p><p><strong>Methods: </strong>Retrospective quantitative analyze of 104 NRAS mutated melanomas was performed using pyrosequencing. Mechanisms of M%NRAS imbalance were studied by fluorescence in situ hybridization (FISH) and microsatellite analysis.</p><p><strong>Results: </strong>M%NRAS was increased in 27.9% of cases. FISH revealed that chromosome 1 instability was the predominant mechanism of M%NRAS increase, with chromosome 1 polysomy observed in 28.6% of cases and intra-tumor cellular heterogeneity with copy number variations of chromosome 1/NRAS in 23.8%. Acquired copy-neutral loss of heterozygosity (LOH) was less frequent (19%). However, most samples with high M%NRAS had only one copy of NRAS locus surrounding regions suggesting a WT allele loss. Clinical characteristics and survival of patients with either <60% or ≥60% of M%NRAS were not different.</p><p><strong>Conclusion: </strong>As recently shown for M%BRAF, M%NRAS is highly heterogeneous. The clinical impacts of high M%NRAS should be investigated in a larger series of patients.</p>","PeriodicalId":9014,"journal":{"name":"BMC Dermatology","volume":"17 1","pages":"9"},"PeriodicalIF":0.0,"publicationDate":"2017-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12895-017-0061-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35133552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}