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https://www.readbyqxmd.com/read/28809862/gnaq-and-gna11-mutations-and-downstream-yap-activation-in-choroidal-nevi
#1
M J C Vader, M C Madigan, M Versluis, H M Suleiman, G Gezgin, N A Gruis, J J Out-Luiting, W Bergman, R M Verdijk, M J Jager, P A van der Velden
BACKGROUND: Mutations in GNAQ/11 genes are considered an early event in the development of uveal melanoma that may derive from a pre-existing nevus. The Hippo pathway, by way of YAP activation, rather than MAP kinase, has a role in the oncogenic capacity of GNAQ/11 mutations. METHODS: We investigated 16 nevi from 13 human eyes for driver GNAQ/11 mutations using droplet digital PCR and determined whether nevi are clonal by quantifying mutant nevus cell fractions...
August 15, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28806214/choroidal-nevi-with-focal-choroidal-excavation-and-polypoidal-choroidal-neovascularization
#2
Daniel Simhaee, Rosa Dolz-Marco, K Bailey Freund
PURPOSE: To report two cases of choroidal nevi associated with focal choroidal excavation (FCE) and polypoidal choroidal neovascularization (PCN). METHODS: Report of two patients with choroidal nevi showing FCE and PCN who underwent multimodal imaging including color fundus photography, fluorescein angiography, indocyanine green angiography, fundus autofluorescence, spectral domain optical coherence tomography, swept-source optical coherence tomography, and optical coherence tomography angiography...
August 10, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28802494/toward-a-molecular-genetic-classification-of-spitzoid-neoplasms
#3
REVIEW
Michael T Tetzlaff, Alexandre Reuben, Steven D Billings, Victor G Prieto, Jonathan L Curry
The histopathologic spectrum of Spitzoid neoplasms includes Spitz nevi, atypical Spitz tumors, and Spitzoid melanomas. Advances in molecular genetics have evolved to the point that Spitzoid lesions can now be reasonably classified according to their distinctive molecular-genetic alterations: Spitzoid lesions with (1) 11p amplification and/or HRAS mutations; (2) isolated loss of 6q23 by fluorescence in situ hybridization (FISH); (3) homozygous deletion of 9p21 by FISH; (4) BAP1 loss and BRAFV600 E mutation; (5) translocations involving any of a number of different oncogenic kinase drivers, including ROS1, ALK, NTRK1, NTRK3, MET, BRAF, and RET; and (6) TERT promoter mutations...
September 2017: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/28802492/blue-nevi-and-related-tumors
#4
REVIEW
Artur Zembowicz
The major entities related to blue nevus are common blue nevus, cellular blue nevus, atypical blue nevus, and malignant blue nevus. These lesions share presence of dermal pigmented dendritic melanocytes derived from embryonal precursors to melanocytes, Schwann cells, and glial cells migrating to the skin from the ventral neural crest. Genetically, blue nevi harbor mutations in G-protein-coupled receptor subunits GNAQ and GNA11. Progression to malignant blue nevus is associated with additional mutations and partial gains and losses of chromosomal material...
September 2017: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/28796109/resurfacing-of-the-mid-and-lower-faces-by-preexpanded-supraclavicular-flap
#5
Muxin Zhao, Yangqun Li, Lisi Xu, Zhe Yang, Chunmei Hu, Yong Tang, Wen Chen, Ning Ma, Weixin Wang, Jun Feng
Extensive scarring and giant nevi on the mid and lower faces places further demands on scar resurfacing in terms of match, size, and thickness. The area of supraclavicular cervical flap is rather limited, but the expansion could expand its utility in facial resurfacing.Rectangular expanders were inserted via the incisions at the upper fringes of clavicles, and implanted under supraclavicular flap areas. After full expansion, the flap based on supraclavicular artery was elevated to cover the defects left by surgical removal of scar or tumor...
August 8, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28794570/disappearance-of-all-nevi-as-initial-sign-of-metastatic-melanoma
#6
Antonio Martinez-Lopez, Gonzalo Blasco-Morente, Israel Perez-Lopez, Salvador Arias-Santiago
No abstract text is available yet for this article.
July 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28763334/pseudomelanomas-following-stevens-johnson-syndrome
#7
Nima Mesbah Ardakani, Shevya M Tiwari, Benjamin A Wood
In this report, we present a novel case of pseudomelanoma, similar to that seen in a recurrent/traumatized nevus, in pre-existing nevi in a 36-year-old man a few months after recovering from an episode of severe Stevens-Johnson syndrome. The mechanism responsible for the atypical transformation of these nevi is likely the release of cytokines and growth factors in the microenvironment during the repair/regeneration process. It is important to be aware of this phenomenon, and specific inquiry about potential recent blistering skin disorder in addition to the other causes of trauma should be made when dealing with cases of pseudomelanoma to avoid misdiagnosis...
July 26, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28750902/adaptable-pattern-recognition-system-for-discriminating-melanocytic-nevi-from-malignant-melanomas-using-plain-photography-images-from-different-image-databases
#8
Spiros A Kostopoulos, Pantelis A Asvestas, Ioannis K Kalatzis, George C Sakellaropoulos, Theofilos H Sakkis, Dionisis A Cavouras, Dimitris T Glotsos
OBJECTIVE: The aim of this study was to propose features that evaluate pictorial differences between melanocytic nevus (mole) and melanoma lesions by computer-based analysis of plain photography images and to design a cross-platform, tunable, decision support system to discriminate with high accuracy moles from melanomas in different publicly available image databases. MATERIAL AND METHODS: Digital plain photography images of verified mole and melanoma lesions were downloaded from (i) Edinburgh University Hospital, UK, (Dermofit, 330moles/70 melanomas, under signed agreement), from 5 different centers (Multicenter, 63moles/25 melanomas, publicly available), and from the Groningen University, Netherlands (Groningen, 100moles/70 melanomas, publicly available)...
September 2017: International Journal of Medical Informatics
https://www.readbyqxmd.com/read/28748967/melanocytic-nevi-and-non-neoplastic-hyperpigmentations
#9
C Clemente
This is the first of three chapters that will be progressively published on Pathologica as updating activity of the Italian Study Group of Dermatopathology (GISD), Italian Society of Pathology and Cytology (SIAPeC IAP). The first chapter concerns non-neoplastic hyperpigmented skin lesions and nevi, the second will address the topics of dysplastic nevus, borderline and low malignant potential melanocytic proliferations and the third melanoma in its variants and differential diagnoses with a supplement on the immunohistochemistry and molecular support to diagnostic and prognostic definition of nevi and melanomas...
June 2017: Pathologica
https://www.readbyqxmd.com/read/28746718/association-of-incident-amelanotic-melanoma-with-phenotypic-characteristics-mc1r-status-and-prior-amelanotic-melanoma
#10
Steven Vernali, Weston T Waxweiler, Patrick M Dillon, Peter A Kanetsky, Irene Orlow, Li Luo, Klaus J Busam, Anne Kricker, Bruce K Armstrong, Hoda Anton-Culver, Stephen B Gruber, Richard P Gallagher, Roberto Zanetti, Stefano Rosso, Lidia Sacchetto, Terence Dwyer, Anne E Cust, David W Ollila, Colin B Begg, Marianne Berwick, Nancy E Thomas
Importance: We previously reported that survival is poorer from histopathologically amelanotic than pigmented melanoma because of more advanced stage at diagnosis. Identifying patients at risk of amelanotic melanoma might enable earlier diagnosis and improved survival; however, the phenotypic characteristics and underlying genetics associated with amelanotic melanoma are unknown. Objective: To determine whether phenotypic characteristics, carriage of MC1R variants, and history of amelanotic melanoma are associated with histopathologically amelanotic melanoma...
July 26, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28736236/patients-with-hidradenitis-suppurativa-have-a-high-psychiatric-disease-burden-a-finnish-nationwide-registry-study
#11
Laura Huilaja, Hannu Tiri, Jari Jokelainen, Markku Timonen, Kaisa Tasanen
Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease of hair follicles which is associated with various comorbidities. In order further to clarify the associations between HS and psychiatric disorders, we conducted a nationwide retrospective study that included 4381 patients with HS and 39554 psoriasis and 43248 melanocytic nevi patients as controls. Patient data were obtained from the statutory Finnish Care Register for Health Care. The incidence of HS was 2.7/100,000 persons/year. At least one psychiatric diagnosis was found in 24...
July 20, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28729654/cryopreservation-protocol-for-human-biliary-tree-stem-progenitors-hepatic-and-pancreatic-precursors
#12
Lorenzo Nevi, Vincenzo Cardinale, Guido Carpino, Daniele Costantini, Sabina Di Matteo, Alfredo Cantafora, Fabio Melandro, Roberto Brunelli, Carlo Bastianelli, Camilla Aliberti, Marco Monti, Daniela Bosco, Pasquale Bartolomeo Berloco, Pierluigi Benedetti Panici, Lola Reid, Eugenio Gaudio, Domenico Alvaro
Human biliary tree stem/progenitor cells (hBTSCs) are being used for cell therapies of patients with liver cirrhosis. A cryopreservation method was established to optimize sourcing of hBTSCs for these clinical programs and that comprises serum-free Kubota's Medium (KM) supplemented with 10% dimethyl sulfoxide (DMSO), 15% human serum albumin (HSA) and 0.1% hyaluronans. Cryopreserved versus freshly isolated hBTSCs were similar in vitro with respect to self-replication, stemness traits, and multipotency. They were able to differentiate to functional hepatocytes,cholangiocytes or pancreatic islets, yielding similar levels of secretion of albumin or of glucose-inducible levels of insulin...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28727603/nodular-lesion-in-cheek-with-a-hair-tuft
#13
David Ayala, Inés Escandell, Jose M Martin
Trichostasis spinulosa is a rarely diagnosed disorder of the pilosebaceous unit, characterized by retention of telogen hairs within the dilated follicles. A hair tuft can be seen protruding from the follicles. We present a case of trichostasis spinulosa associated with intradermal melanocytic nevi, where dermoscopy helps to identify this entity.
August 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28707325/effects-of-scalp-nerve-block-on-pain-and-emergence-agitation-after-paediatric-nevus-surgery-a-clinical-trial
#14
J-S Kim, G W Kim, D H Park, H E Ahn, M Y Chang, J Y Kim
BACKGROUND: Pain is considered as being one cause of post-operative emergence agitation (EA) from sevoflurane anaesthesia. The purpose of this study was to investigate the pure effect of post-operative pain on EA after sevoflurane anaesthesia in preschool children undergoing excision of scalp nevi. METHODS: Forty-four children, 1-7 years old, undergoing scalp nevus excision were enrolled. Patients were randomly assigned to two groups: the remifentanil group received single intravenous injection of short-acting synthetic opioid, remifentanil 1 μg/kg just before the scalp incision, and the block group received scalp nerve block with 0...
September 2017: Acta Anaesthesiologica Scandinavica
https://www.readbyqxmd.com/read/28700778/frequent-gnaq-gna11-and-eif1ax-mutations-in-iris-melanoma
#15
Simone L Scholz, Inga Möller, Henning Reis, Daniela Süßkind, Johannes A P van de Nes, Sonia Leonardelli, Bastian Schilling, Elisabeth Livingstone, Tobias Schimming, Annette Paschen, Antje Sucker, Rajmohan Murali, Klaus-Peter Steuhl, Dirk Schadendorf, Henrike Westekemper, Klaus G Griewank
Purpose: The most common malignant intraocular tumors with a high mortality in adults are uveal melanomas. Uveal melanomas arise most frequently in the choroid or ciliary body (97%) and rarely in the iris (3%). Whereas conjunctival and posterior uveal (ciliary body and choroidal) melanomas have been studied in more detail genetically, little data exist regarding iris melanomas. Methods: In our study, we genetically analyzed 19 iris melanomas, 8 ciliary body melanomas, 3 ring melanomas, and 4 iris nevi...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28700401/wiesner-nevus-of-the-eyelid
#16
Marie Somogyi, Lance J Lyons, Vikram Durairaj
A healthy 31-year-old female presented with an elevated vascular lesion on the right lower eyelid margin. Histology results from excisional biopsy demonstrated a range of intradermally nested atypical melanocytes with negative staining for BRCA1-associated protein 1, confirming the diagnosis of Wiesner nevus. Wiesner nevi may be a cutaneous hallmark of the BRCA1-associated protein 1-associated cancer susceptibility syndrome, and to our knowledge, this is the first report of such a lesion presenting anywhere on the ocular adnexa...
July 10, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28694830/erratum-to-do-epinephrine-auto-injectors-have-an-unsuitable-needle-length-in-children-and-adolescents-at-risk-for-anaphylaxis-from-food-allergy
#17
Sten Dreborg, Xia Wen, Laura Kim, Gina Tsai, Immaculate Nevis, Ryan Potts, Jack Chiu, Arunmozhi Dominic, Harold Kim
[This corrects the article DOI: 10.1186/s13223-016-0110-8.].
2017: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/28692584/association-between-risk-factors-and-detection-of-cutaneous-melanoma-in-the-setting-of-a-population-based-skin-cancer-screening
#18
Joachim Hübner, Annika Waldmann, Nora Eisemann, Maria Noftz, Alan C Geller, Martin A Weinstock, Beate Volkmer, Rüdiger Greinert, Eckhard W Breitbart, Alexander Katalinic
Early detection is considered to improve the prognosis of cutaneous melanoma. The value of population-based screening for melanoma, however, is still controversial. The aim of this study was to evaluate the predictive power of established risk factors in the setting of a population-based screening and to provide empirical evidence for potential risk stratifications. We reanalyzed data (including age, sex, risk factors, and screening results) of 354 635 participants in the Skin Cancer Research to provide Evidence for Effectiveness of Screening in Northern Germany project conducted in the German state of Schleswig-Holstein (2003-2004)...
July 7, 2017: European Journal of Cancer Prevention
https://www.readbyqxmd.com/read/28682723/treating-giant-congenital-nevus-with-integra-dermal-regeneration-template-in-a-9-year-old-girl
#19
Zoran Barcot, Dakovic Bacalja Inga, Bozidar Zupancic, Vedran Bacalja
Integra dermal regeneration template has been well established in treating deep extensive burns, but there are very few cases reported of treating large full-thickness skin defects such as giant nevi. Apart from psychological and cosmetic burdens, the giant congenital nevus carries increased risk of malignant alteration. We present the case of a 9-year-old girl with a giant congenital nevus on her left lower leg. A total excision was done and she was successfully treated with Integra (LifeSciences Corp, Plainsboro, NJ)...
June 2017: International Journal of Lower Extremity Wounds
https://www.readbyqxmd.com/read/28679862/mysm1-2a-dub-is-an-epigenetic-regulator-in-human-melanoma-and-contributes-to-tumor-cell-growth
#20
Christina Wilms, Carsten M Kroeger, Adelheid V Hainzl, Ishani Banik, Clara Bruno, Ioanna Krikki, Vida Farsam, Meinhard Wlaschek, Martina V Gatzka
Histone modifying enzymes, such as histone deacetylases (HDACs) and polycomb repressive complex (PRC) components, have been implicated in regulating tumor growth, epithelial-mesenchymal transition, tumor stem cell maintenance, or repression of tumor suppressor genes - and may be promising targets for combination therapies of melanoma and other cancers. According to recent findings, the histone H2A deubiquitinase 2A-DUB/Mysm1 interacts with the p53-axis in hematopoiesis and tissue differentiation in mice, in part by modulating DNA-damage responses in stem cell and progenitor compartments...
June 27, 2017: Oncotarget
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