Molecular diagnostics are increasingly performed routinely in the diagnosis and management of patients with melanoma due to the development of novel therapies that target specific genetic mutations. ...The development of next-generation sequencing (NGS) technologies has enabled to sequence multiple cancer-driving genes in a single assay, with improved sensitivity in mutation detection. The main objective of this study was the design and implementation of a melanoma-specific sequencing panel, and the identification of the spectrum of somatic mutations in a series of primary melanoma samples. A custom panel was designed to cover the coding regions of 35 melanoma-related genes. Panel average coverage was 2,575.5 reads per amplicon, with 92,8% of targeted bases covered ≥500×. Deep coverage enabled sensitive discovery of mutations in as low as 0.5% mutant allele frequency. Eighty-five percent (85/100) of the melanomas had at least one somatic mutation. The most prevalent mutated genes were BRAF (50%;50/199), NRAS (15%;15/100), PREX2 (14%;14/100), GRIN2A (13%;13/100), and ERBB4 (12%;12/100). Turn-around-time and costs for NGS-based analysis was reduced in comparison to conventional molecular approaches. The results of this study demonstrate the cost-effectiveness and feasibility of a custom-designed targeted NGS panel, and suggest the implementation of targeted NGS into daily routine practice.
Three‐dimensional (3D) wound measurement lacks a gold standard to test accuracy. It is useful to develop procedures to scan wounds and reconstruct their 3D model with low‐cost techniques. We present ...a new procedure (Structure from Motion SfM‐3DULC) that uses photographs for measuring nine wound variables. We also propose a new variant of ImageJ in which an orthophoto is used to measure the projected area (Ortho‐ImageJ). In addition, we compare the wound measurements made by dermatologists and non‐experts. A group of five experts in dermatology and five non‐specialists measured 33 leg wounds five times per procedure. Intra‐rater and inter‐rater reliability scores of SfM‐3DULC were evaluated with the intraclass correlation coefficient (ICC 2,1). The accuracy of the two new procedures (SfM‐3DULC and Ortho‐ImageJ) in the measurement of projected area was assessed by comparing their values with those obtained using ImageJ, with the Wilcoxon matched‐pairs signed rank test (α = 0.05). This test was also used to analyse the differences between the measurements made by dermatologists and non‐experts. All the variables measured by dermatologists using SfM‐3DULC showed excellent scores of intra‐rater reliability (ICC > 0.99) and inter‐rater reliability (ICC > 0.98). No significant differences between the three procedures were found when comparing their projected area values. Significant differences between the measurements of dermatologists and non‐experts were found in most of the variables: circularity coefficient, perimeter, projected area, surface area, and reference surface area. The wound measurement procedure SfM‐3DULC has an excellent reliability, is accurate for the measurement of projected area, and can be used by dermatologists for wound monitoring in everyday clinical practice.
Summary
Introduction
Diffuse dermal angiomatosis is an entity in the spectrum of reactive angiomatoses characterized by erythematous plaques that mainly affect the lower extremities of patients with ...a personal history of peripheral vascular disease. Involvement of the breast is a rare event that has only been described as single cases in women with large breasts.
Objective
Our main aim is to report three rare cases of diffuse dermal angiomatosis of the breast and to better define their clinical, histopathological, and immunohistochemical characteristics. Comorbidities and management will also be discussed.
Methods
A retrospective search of patients with the diagnosis of diffuse dermal angiomatosis of the breast was made. Databases of three hospitals, Hospital 12 de Octubre (Madrid, Spain), Hospital La Fe (Valencia, Spain), and Clinica Dermatologica, University of Genoa (Italy), were included in the analysis.
Results
Three middle‐aged women who were heavy smokers were found. Physical examination revealed several livedoid plaques on both breasts. Painful ulceration over the violaceous lesions was observed in two cases. Histological features included a diffuse proliferation of spindle‐shaped endothelial cells with focal small vessel formation occupying the full thickness of the dermis with scanty extravasated erythrocytes, showing positivity for CD31, CD34, and SMA‐α and negativity for D2‐40. Management was focused on a strict control of comorbidities, especially on the cessation of smoking habit that led to a conspicuous improvement in all patients.
Conclusions
We describe all those clinicopathologic features that define diffuse dermal angiomatosis of the breast, which should be considered a distinctive variant into the group of cutaneous angiomatoses. In our experience, a strict control of smoking habit must be the first step in the management of this entity.
Different melanocytic nevi have been reported as being associated with dermal cysts. Signet ring cell melanocytic nevus is a rare variant of melanocytic nevus characterized by cells with signet ring ...morphology within a common melanocytic nevus. This article describes an exceptional case of melanocytic nevus composed exclusively of signet ring cells over a trichilemmal cyst. Histologically, above the cyst, there was a small, symmetrical and sharply demarcated lesion showing a compound proliferation of small, round, monomorphous cells with signet ring morphology. Immunohistochemically, signet ring cells were negative for cytokeratin AE1/3, leukocyte common antigen, HMB-45, and CD34. Occasionally, isolated signet ring cells were positive for S-100 and melan A. Melanocytic nevus composed of signet ring cells should raise the differential diagnosis with other cutaneous tumors exhibiting signet ring cells. Previous cases of this entity reported in the literature are also reviewed.
A representative case of Cowden syndrome with florid mucocutaneous manifestations is presented. A genetic study revealed the c.104T>G, p.Met35Arg (NM_00314.8) heterozygous variant in exon 2 of PTEN. ...A satisfactory response of skin lesions to sirolimus was obtained.
This case report describes a woman in her 30s who presented with cutaneous lesions since age of 2 to 3 years with erythema and pain on her nose, both cheeks, and ears when exposed to cold ...temperatures that progressed to nasal and auricular cartilage necrosis and was diagnosed with stimulator of interferon genes–associated vasculopathy with onset in infancy (SAVI syndrome).
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