Multiparameter analysis of naevi and primary melanomas identifies a subset of naevi with elevated markers of transformation

Here we have carried out a multiparameter analysis using a panel of 28 immunohistochemical markers to identify markers of transformation from benign and dysplastic naevus to primary melanoma in three separate cohorts totalling 279 lesions. We have identified a set of eight markers that distinguish naevi from melanoma. None of markers or parameters assessed differentiated benign from dysplastic naevi. Indeed, the naevi clustered tightly in terms of their immunostaining patterns whereas primary melanomas showed more diverse staining patterns. A small subset of histopathologically benign lesions had elevated levels of multiple markers associated with melanoma, suggesting that these represent naevi with an increased potential for transformation to melanoma

Variations in the dermoscopic features of acquired acral melanocytic nevi

WOS: 000250962200003PubMed ID: 18025361Objective: To investigate the dermoscopic features of acquired acral melanocytic nevi (AAMN) in a white population in Turkey. Design: Prospective population-based study. Setting: University dermatology department dermoscopy unit. Patients: A total of 2625 patients admitted to our dermoscopy unit. Interventions: Patients were examined for AAMN clinically and dermoscopically with a digital imaging system, and AAMN larger than 7 mm and dermoscopically suggestive lesions were excised and examined histopathologically. For other nevi, digital dermoscopic follow-up at 6-month intervals was recommended. Results: A total of 188 AAMN were observed in 138 patients. The most common dermoscopic pattern was the parallel furrow pattern (58.5%). The other patterns seen were fibrillar (12.2%), latticelike (6.4%), homogeneous (6.4%), globulostreaklike (5.3%), reticular (4.3%), globular (2.1%), nontypical (3.2%), and the pattern suggestive of malignancy (1.6%). All 39 excised lesions (20.7%) were benign. In addition, within I year, some changes in dermoscopic features were observed in 24 of the 33 lesions observed on digital dermoscopic follow-up (73%). Conclusions: There may be many variations in AAMN. In our population, although the parallel furrow pattern is the most common pattern, as reported in Japanese populations, fibrillar and latticelike patterns occurred in lower proportions. Conversely the homogeneous pattern is more frequent and may be considered one of the major patterns in the white population. In addition, changes in the dermoscopic features of AAMN may occur, even during short-term follow-up

Clinicopathological Characteristics and Mutation Profiling in Primary Cutaneous Melanoma

WOS: 000353346500009PubMed ID: 25357015Background: The incidence of mutations in malignant melanoma varies remarkably according to the subtype of melanoma, and this in itself is affected by racial and geographical factors. Studies screening melanoma case series for different types of mutations are relatively rare. Method: The authors analyzed the frequency of various somatic point mutations of 10 genes in 106 primary cutaneous melanoma cases. The mutations (BRAF, NRAS, KIT, CDKN2A, KRAS, HRAS, PIK3CA, STK11, GNAQ, CTNNB1) were evaluated with real-time PCR-based PCR-Array through allele-specific amplification, and the results were correlated with various clinicopathological characteristics. Results: Mutations were found in 64.2% of the melanomas overall. BRAF (42.5%), NRAS (15.1%), and CDKN2A (13.2%) were the 3 most common mutations. BRAF and NRAS mutations were more frequent in nodular and superficial spreading melanomas (P < 0.001). Associations with BRAF mutation were as follows: male gender [odds ratio (OR) = 2.4], younger age (OR = 2.7), superficial spreading (OR = 15.6) and nodular melanoma (OR = 9.5), trunk localization (OR = 6.3), and intermittent sun exposure (OR = 4.6). A considerable percentage of V600K (44.4%) mutations were found among the BRAF mutations, whereas KIT mutations (3.8%) were less frequent. Multiple mutations were detected in 13.2% of the melanomas. The most common co-occurrences were in the BRAF, NRAS, and CDKN2A genes. Conclusions: The authors analyzed 10 somatic mutations in the main subtypes of primary cutaneous melanomas from the western region of Turkey. Mutations were found in 64.2% of the melanomas overall. The most common mutations were in the BRAF and NRAS genes. In addition to other less common mutations, a notable number of multiple mutations were encountered. The multiplicity and concurrence of mutations in this study may provide further study areas for personalized targeted therapy.Ege University Scientific Research Fund (BAP)Ege University [2012-TIP-024]Supported by grants from Ege University Scientific Research Fund (BAP, #2012-TIP-024)

BRAF-V600 Mutation Heterogeneity in Primary and Metastatic Melanoma: A Study With Pyrosequencing and Immunohistochemistry

WOS: 000369490000004PubMed ID: 26630683Background:The BRAF-V600 mutation is the most common mutation in cutaneous melanomas and is currently considered a target mutation when planning treatment for metastatic melanoma patients. Various techniques are used to determine the mutation status. The aim of this study was to determine the BRAF-V600 mutation status in primary and metastatic foci of melanoma cases and the consistency between the results of immunohistochemical and molecular methods.Methods:A total of 48 primary or metastatic cases were included in the study. Pyrosequencing was used as the molecular method and the VE1 antibody for immunohistochemical evaluation when determining the BRAF-V600 mutation.Results:The BRAF-V600 mutation was found in 75 of the 96 tumors (78.1%) from the 48 cases. V600E and V600K were present in 60 and 10 tumors, respectively, whereas V600R and V600M were present in 2 tumors and V600G in 1 tumor. There was no mutation in 5 metastases (12.8%) of the 39 cases with a V600 mutation in the primary tumor and no mutation in the primary tumor of 2 of the 36 cases (5.6%) with the V600 mutation in the metastasis. Fifty-six tumors were immunohistochemically positive where a V600E mutation was detected with pyrosequencing. Wild-type tumors (n = 20) and tumors with non-V600E mutations (n = 15) on pyrosequencing were immunonegative with VE1. The sensitivity and specificity of immunohistochemistry were 93.3% and 97.2%, respectively.Conclusions:In conclusion, BRAF-V600 mutation inconsistencies of up to 14.5% can be seen between the primary and metastatic foci in melanoma cases. These findings should be taken into account when planning targeted therapy and deciding on treatment responsiveness/unresponsiveness. An immunohistochemical method can be used as the first step to detect a BRAF-V600 mutation but additional molecular methods should be used when immunohistochemistry results are negative.Ege University Scientific Research Fund (BAP)Ege University [2012-TIP-024]Supported by grants from the Ege University Scientific Research Fund (BAP, #2012-TIP-024)

Diaphragmatic paralysis after pediatric heart surgery: Usefulness of non-invasive ventilation

Diaphragmatic paralysis after cardiac surgery is an important complication especially in infants. We report a child who developed diaphragmatic paralysis, atelectasis, bronchomalasia and respiratory failure following cardiac surgery. Ventilatory support alleviated respiratory distress in this child. This report illustrates the usefulness of invasive and non-invasive ventilatory support for a pediatric patient with diaphragmatic paralysis. (C) 2010 Elsevier Ireland Ltd. All rights reserved

Nodular Fasciitis of the External Auditory Canal

WOS: 000298572200020We describe a case of nodular fasciitis of the external auditory canal and review the literature. This rare entity should be considered in the differential diagnosis of rapidly growing, hemorrhagic neoplastic lesions of the ear. Experienced otopathologists are needed for proper preoperative evaluation. The excision of the tumor together with the site of origin lowers the probability of recurrence

Giant Hidrocystoma of the Orbit Presenting with Inversion and Ptosis of the Upper Eyelid

WOS: 000397191000011PubMed ID: 28405487A case of giant hidrocystoma of the orbit in a 57-year-old female causing pain, epiphora and ptosis is reported. The cystic mass was totally excised as a whole. Histopathologic examination revealed eccrine hidrocystoma of the orbit. Hidrocystoma must be considered in the differential diagnosis of patients presenting with periocular masses causing pain and ptosis

In vivo reflectance confocal microscopic imaging of Leishmania amastigotes (Leishman bodies): A case report

Yaman, Banu/0000-0002-2915-0788WOS:000630899100001PubMed: 33719119Cutaneous leishmaniasis (CL) is an intracellular parasitic infectious skin disease with a chronic self-limited course. in vivo reflectance confocal microscopy (RCM) findings in CL have been described in only two cases of CL. We report another case with RCM findings; however to our knowledge, this is the first demonstration of Leishmania amastigotes in RCM imaging. A centrally eroded reddish nodular lesion with a diameter of 12 mm was observed on the leg of a 36-years-old male with a 1-month history. on dermoscopy, a central yellowish crust, and irregularly distributed whitish opaque structures ranging in size and shape (round to polygonal) were observed. There were also irregular vessels mostly at the center and dotted/glomerular vessels at the periphery. on RCM, mild epidermal disarray with some scattered bright cells at the basal layer was observed. At the dermis, dense infiltration of polymorphic/roundish cells with heterogeneous reflectivity was seen. These large, mildly reflecting cells with fine granular structures in their cytoplasm were compatible with macrophages. Histopathology was concordant with CL. The Leishmania amastigotes seen as cytoplasmic granularity on RCM were the clue feature for the initial diagnosis

Perianal fibroadenoma, case report

WOS: 000252515600019PubMed ID: 18212553Extramammary fibroadenomas, occurring in the anogenital region, are rare lesions thought to be arising from "mammary-like anogenital sweet glands" described by van der Putte. We present a 42-year-old woman with a slow-growing, 4-cm, well-circumscribed but nonencapsulated mass in perianal region. The cut surface of the lesion was bulging, gray-white, and slightly lobulated. Microscopically, it was identical to mammary fibroadenoma and composed of concurrent glandular and stromal elements. Low columnar or cuboidal cells with focal, apical cytoplasmic snouts lined the glands, whereas the underlying layer had myoepithelial cell features, expressing smooth muscle actin and S-100. Epithelial component was immunoreactive for human milk fat globulin I. Progesterone receptor positivity was 80%, whereas the estrogen receptor expression was 60%. Gross cystic disease fluid protein and human milk fat globulin 11 were negative. The case is presented to increase the awareness on mammary-like glands of anogenital region, which may give rise to not only fibroadenomas but also fibrocystic disease, phyllodes tumor, carcinoma in situ, invasive carcinoma and lactating adenoma, hidrocystoma, hidradenoma papilliferum, intraductal papilloma, and sclerosing adenosis, although very rare