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https://www.readbyqxmd.com/read/29794873/genomic-fusions-in-pigmented-spindle-cell-nevus-of-reed
#1
Timothy VandenBoom, Victor L Quan, Bin Zhang, Erin M Garfield, Betty Y Kong, Maria C Isales, Elnaz Panah, Catherine Igartua, Timothy Taxter, Nike Beaubier, Kevin White, Pedram Gerami
Recent molecular studies of spitzoid neoplasms have identified mutually exclusive kinase fusions involving ROS1, ALK, RET, BRAF, NTRK1, MET, and NTRK3 as early initiating genomic events. Pigmented spindle cell nevus (PSCN) of Reed is a morphologic variant of Spitz and may be very diagnostically challenging, having histologic features concerning for melanoma. Their occurrence in younger patients, lack of association to sun exposure, and rapid early growth phase similar to Spitz nevi suggest fusions may also play a significant role in these lesions...
May 22, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29779219/immunohistochemical-and-molecular-analysis-of-spitzoid-neoplasms-with-pulverocyte-subclones
#2
S M Amin, A M Haugh, J A Bubley, A E Verzì, E A Merkel, C Y Lee, V L Quan, E M Garfield, L M Sholl, B Zhang, P Gerami
BACKGROUND: Clonal naevi are characterized by a focal proliferation of pigmented melanocytes in an otherwise banal naevus. These subclones are often composed of aggregates of larger, epithelioid melanocytes with nuclear atypia and dusty-grey cytoplasmic pigmentation, which are referred to as 'pulverocytes', and this finding may lead to a misdiagnosis of malignant melanoma (MM). AIM: To characterize the significance of subclones of dusty-grey pigmented epithelioid melanocytes within spitzoid neoplasms...
May 20, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29753057/histomorphologic-spectrum-of-germline-related-and-sporadic-bap-1-inactivated-melanocytic-tumors
#3
Erin M Garfield, Kara E Walton, Victor L Quan, Timothy VandenBoom, Bin Zhang, Betty Y Kong, Maria Cristina Isales, Elnaz Panah, Gene Kim, Pedram Gerami
BACKGROUND: BAP-1 inactivated melanocytic tumors (BIMTs) are often the earliest sign of the BAP-1 tumor predisposition syndrome. Identification of BIMTs and selection of patients for germline testing impacts the lives of patients with germline BAP-1 mutations. OBJECTIVE: We describe the spectrum of histomorphologic findings in BAP-1 inactivated melanocytic lesions to improve their recognition. We determined the frequency of sporadic versus germline cases in our cohort, assessing whether any features were statistically linked to germline status...
May 9, 2018: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29473193/pigmented-onychomatricoma-a-rare-mimic-of-subungual-melanoma
#4
M C Isales, A M Haugh, J Bubley, S Zarkhin, D Bertler, E Hanson, A E Verzi, J Brieva, J Guitart, P Gerami
No abstract text is available yet for this article.
February 23, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29404948/a-randomized-trial-on-the-efficacy-of-mastery-learning-for-primary-care-provider-melanoma-opportunistic-screening-skills-and-practice
#5
June K Robinson, Namita Jain, Ashfaq A Marghoob, William McGaghie, Michael MacLean, Pedram Gerami, Brittney Hultgren, Rob Turrisi, Kimberly Mallett, Gary J Martin
BACKGROUND: Early detection of melanoma represents an opportunity to reduce the burden of disease among people at increased risk for melanoma. OBJECTIVE: To develop and demonstrate the efficacy of online training. DESIGN: Randomized educational trial. PARTICIPANTS: Primary care providers (PCPs). INTERVENTION: Mastery learning course with visual and dermoscopic assessment, diagnosis and management, and deliberate practice with feedback to reach a minimum passing standard...
February 5, 2018: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/29402264/performance-of-a-prognostic-31-gene-expression-profile-in-an-independent-cohort-of-523-cutaneous-melanoma-patients
#6
Jonathan S Zager, Brian R Gastman, Sancy Leachman, Rene C Gonzalez, Martin D Fleming, Laura K Ferris, Jonhan Ho, Alexander R Miller, Robert W Cook, Kyle R Covington, Kristen Meldi-Plasseraud, Brooke Middlebrook, Lewis H Kaminester, Anthony Greisinger, Sarah I Estrada, David M Pariser, Lee D Cranmer, Jane L Messina, John T Vetto, Jeffrey D Wayne, Keith A Delman, David H Lawson, Pedram Gerami
BACKGROUND: The heterogeneous behavior of patients with melanoma makes prognostication challenging. To address this, a gene expression profile (GEP) test to predict metastatic risk was previously developed. This study evaluates the GEP's prognostic accuracy in an independent cohort of cutaneous melanoma patients. METHODS: This multi-center study analyzed primary melanoma tumors from 523 patients, using the GEP to classify patients as Class 1 (low risk) and Class 2 (high risk)...
February 5, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29138058/the-diagnostic-value-and-histologic-correlate-of-distinct-patterns-of-shiny-white-streaks-for-the-diagnosis-of-melanoma-a-retrospective-case-control-study
#7
Anna Eliza Verzi, Victor L Quan, Kara E Walton, Mary C Martini, Ashfaq A Marghoob, Erin M Garfield, Betty Y Kong, Maria Cristina Isales, Timothy VandenBoom, Bin Zhang, Dennis P West, Pedram Gerami
BACKGROUND: Shiny white streaks (SWSs) are best visualized with polarized dermoscopy and correlate with dermal fibroplasia histopathologically. SWSs have been described at higher frequencies in melanomas than in benign nevi. OBJECTIVE: We assessed the diagnostic value of different patterns of SWSs and their histologic correlate in melanocytic lesions. METHODS: Polarized dermoscopic images of 1507 histopathologically diagnosed melanocytic neoplasms were analyzed for presence and pattern of SWSs...
May 2018: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28870692/distinct-patterns-of-acral-melanoma-based-on-site-and-relative-sun-exposure
#8
Alexandra M Haugh, Bin Zhang, Victor L Quan, Erin M Garfield, Jeffrey A Bubley, Emily Kudalkar, Anna Elisa Verzi, Kara Walton, Timothy VandenBoom, Emily A Merkel, Christina Y Lee, Timothy Tan, Maria Cristina Isales, Betty Y Kong, Alexander T Wenzel, Christopher G Bunick, Jaehyuk Choi, Jeffrey Sosman, Pedram Gerami
Acral melanoma is distinct from melanoma of other cutaneous sites, yet there is considerable variation within this category. To better define this variation, we assessed melanomas occurring on dorsal (n = 21), volar (n = 9), and subungual/interdigital (n = 13) acral skin as well as acral nevi (n = 24) for clinical, histologic, and molecular features. Melanomas on dorsal acral surfaces demonstrated clear differences compared with volar and subungual/interdigital melanomas. The latter two groups exhibited significantly less frequent BRAF mutations (P = 0...
February 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28793149/genotypic-and-phenotypic-features-of-bap1-cancer-syndrome-a-report-of-8-new-families-and-review-of-cases-in-the-literature
#9
REVIEW
Alexandra M Haugh, Ching-Ni Njauw, Jeffrey A Bubley, Anna Elisa Verzì, Bin Zhang, Emily Kudalkar, Timothy VandenBoom, Kara Walton, Brian L Swick, Raj Kumar, Huma Q Rana, Sarah Cochrane, Shelley R McCormick, Christopher R Shea, Hensin Tsao, Pedram Gerami
Importance: Patients with germline mutations in BAP1 may develop several flesh-colored melanocytic BAP1-mutated atypical intradermal tumors (MBAITs). These tumors generally develop earlier than other BAP1-associated tumors, highlighting an important role for dermatologists in identifying and screening patients with a history suggestive of a germline mutation. Objective: To describe 8 new families with germline mutations in BAP1 and provide a comprehensive review of reported cases...
October 1, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28754310/a-single-institution-assessment-of%C3%A2-superficial-spreading-melanoma-ssm-in-the-pediatric-population-molecular-and-histopathologic-features-compared-with-adult-ssm
#10
COMPARATIVE STUDY
Anna Elisa Verzì, Jeffrey A Bubley, Alexandra M Haugh, Bin Zhang, Annette Wagner, Lacey Kruse, Dennis P West, Jeffrey Wayne, Joan Guitart, Pedram Gerami
BACKGROUND: The epidemiology of pediatric melanoma is distinct from that seen in adults. This is more distinguishable when pediatric patients are separated into prepubertal and adolescent groups. OBJECTIVE: In this study, we compared epidemiologic, clinical, histologic, and molecular characteristics of pediatric superficial spreading melanoma (SSM) in prepubertal and adolescent patients to that in adults. METHOD: We reviewed our database for pediatric melanomas, comparing SSM data between pediatric and adult cases for pathologic stage at presentation, ratio of radial to vertical growth phase, average Breslow depth and mitotic index, and frequency of fluorescence in situ hybridization (FISH) positivity...
November 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28445578/utility-of-a-noninvasive-2-gene-molecular-assay-for-cutaneous-melanoma-and-effect-on-the-decision-to-biopsy
#11
Laura K Ferris, Burkhard Jansen, Jonhan Ho, Klaus J Busam, Kenneth Gross, Doyle D Hansen, John P Alsobrook, Zuxu Yao, Gary L Peck, Pedram Gerami
Importance: Expression of long intergenic non-protein coding RNA 518 (LINC00518) and preferentially expressed antigen in melanoma (PRAME) genes, obtained via noninvasive adhesive patch biopsy, is a sensitive and specific method for detection of cutaneous melanoma. However, the utility of this test in biopsy decisions made by dermatologists has not been evaluated. Objective: To determine the utility of the pigmented lesion assay (PLA) for LINC00518/PRAME expression in decisions to biopsy a series of pigmented skin lesions...
July 1, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28110997/identification-of-high-risk-cutaneous-melanoma-tumors-is-improved-when-combining-the-online-american-joint-committee-on-cancer-individualized-melanoma-patient-outcome-prediction-tool-with-a-31-gene-expression-profile-based-classification
#12
Laura K Ferris, Aaron S Farberg, Brooke Middlebrook, Clare E Johnson, Natalie Lassen, Kristen M Oelschlager, Derek J Maetzold, Robert W Cook, Darrell S Rigel, Pedram Gerami
BACKGROUND: A significant proportion of patients with American Joint Committee on Cancer (AJCC)-defined early-stage cutaneous melanoma have disease recurrence and die. A 31-gene expression profile (GEP) that accurately assesses metastatic risk associated with primary cutaneous melanomas has been described. OBJECTIVE: We sought to compare accuracy of the GEP in combination with risk determined using the web-based AJCC Individualized Melanoma Patient Outcome Prediction Tool...
May 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28092366/malignant-melanoma-of-sun-protected-sites-a-review-of-clinical-histological-and-molecular-features
#13
REVIEW
Emily A Merkel, Pedram Gerami
In most cases of cutaneous melanoma, ultraviolet (UV) radiation is recognized as a prominent risk factor. Less is known regarding the mechanisms of mutagenesis for melanoma arising in sun-protected sites, such as acral and mucosal melanoma. Acral and mucosal melanoma share many common features, including a late age of onset, a broad radial growth phase with prominent lentiginous growth, the presence of field cancerization cells, and, in most cases, lack of a precursor nevus. In addition to early chromosomal instability, many of the same genes are also involved in these two distinct melanoma subtypes...
June 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/27986395/a-clinical-histologic-and-follow-up-study-of-genital-melanosis-in-men-and-women
#14
Alexandra M Haugh, Emily A Merkel, Bin Zhang, Jeffrey A Bubley, Anna Elisa Verzì, Christina Y Lee, Pedram Gerami
BACKGROUND: Genital melanosis may clinically mimic melanoma. Little is known about the potential risk for genital and nongenital melanoma in these patients. OBJECTIVE: In this retrospective cohort study, we analyzed clinical and histologic data from patients with genital melanosis to better characterize these lesions and the risk they confer for genital and nongenital melanoma. METHODS: In all, 41 patients were identified for a retrospective chart review and histologic analysis...
May 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/27849631/reduced-h3k27me3-expression-is-common-in-nodular-melanomas-of-childhood-associated-with-congenital-melanocytic-nevi-but-not-in-proliferative-nodules
#15
Klaus J Busam, Kara N Shah, Pedram Gerami, Thomas Sitzman, Achim A Jungbluth, Veronica Kinsler
The formation of a nodule within a congenital melanocytic nevus (CMN) raises concerns about possible melanoma. Most new nodular growths that develop during childhood, however, are benign proliferative nodules (PN); melanoma is very rare. The distinction of melanoma from PN can at times be difficult clinically and histopathologically, requiring ancillary molecular tests for diagnosis. Although the application of molecular methods has revealed new insights into the mutational and genomic landscape of childhood melanomas, little is known about epigenetic events that may drive the growth of a melanoma or PN in a CMN...
March 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27776007/a-comparison-of-morphologic-and-molecular-features-of-braf-alk-and-ntrk1-fusion-spitzoid-neoplasms
#16
COMPARATIVE STUDY
Sapna M Amin, Alexandra M Haugh, Christina Y Lee, Bin Zhang, Jeffrey A Bubley, Emily A Merkel, Anna Elisa Verzì, Pedram Gerami
Recent studies have identified translocations involving the kinase domains of ALK, NTRK1, BRAF, RET, and ROS in spitzoid neoplasms. Subsequent studies have also characterized morphologic features corresponding to ALK and NTRK1 translocations. In this study, we sought to further compare morphologic features across a range of 49 genetically defined spitzoid neoplasms with ALK, NTRK1, BRAF, or RET fusions to determine discriminating features. We also compared them with a group of 22 spitzoid neoplasms, which were confirmed to be negative for fusions in ALK, NTRK1, BRAF, and RET...
April 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27707590/development-and-validation-of-a-noninvasive-2-gene-molecular-assay-for-cutaneous-melanoma
#17
Pedram Gerami, Zuxu Yao, David Polsky, Burkhard Jansen, Klaus Busam, Jonhan Ho, Mary Martini, Laura K Ferris
BACKGROUND: Clinical and histopathologic assessment of pigmented skin lesions remains challenging even for experts. Differentiated and accurate noninvasive diagnostic modalities are highly desirable. OBJECTIVE: We sought to provide clinicians with such a tool. METHODS: A 2-gene classification method based on LINC00518 and preferentially expressed antigen in melanoma (PRAME) gene expression was evaluated and validated in 555 pigmented lesions (157 training and 398 validation samples) obtained noninvasively via adhesive patch biopsy...
January 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/27446436/translational-significance-of-nodal-cripto-1-and-notch4-in-adult-nevi
#18
Luigi Strizzi, Naira V Margaryan, Pedram Gerami, Zahra Haghighat, Paul W Harms, Gabriele Madonna, Gerardo Botti, Paolo A Ascierto, Mary J C Hendrix
The TGF-β associated growth factor Nodal is highly expressed in aggressive metastatic melanoma. Determining the risk for melanomagenesis from Nodal expression in nevi prior to the development of melanoma may be useful for both the screening and prevention of melanoma. Tissue sections of human adult nevi with or without a history of melanoma were stained by immunohistochemistry (IHC) for Nodal, the Nodal co-receptor Cripto-1, and Notch4, which have previously been shown to be associated with Nodal expression in melanoma...
August 2016: Oncology Letters
https://www.readbyqxmd.com/read/27391457/atypical-spitzoid-neoplasms-in-childhood-a-molecular-and-outcome-study
#19
Christina Y Lee, Lauren M Sholl, Bin Zhang, Emily A Merkel, Sapna M Amin, Joan Guitart, Pedram Gerami
The natural history of atypical Spitz neoplasms remains poorly understood, resulting in significant patient and clinician anxiety. We sought to better characterize outcomes that correlated with molecular features by performing a prospective cohort study of pediatric atypical spitzoid neoplasms in which fluorescence in situ hybridization studies were obtained for diagnosis. Cases with sufficient tissue underwent additional retrospective assessment for translocations in ALK, NTRK1, BRAF, RET, and ROS1. Among 246 total patients assessed, 13% had a positive fluorescence in situ hybridization result...
March 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27313053/evaluation-of-dermoscopic-features-for-distinguishing-melanoma-from-special-site-nevi-of-the-breast
#20
Emily A Merkel, Mary C Martini, Sapna M Amin, Christina Y Lee, Pedram Gerami
BACKGROUND: Nevi of special sites display aberrant clinical and histologic features that can be difficult to distinguish from melanoma, leading to unnecessarily high rates of excision with poor cosmetic or functional results. Dermoscopy can improve clinical assessment of melanocytic lesions by visualizing morphologic structures beyond the epidermis. OBJECTIVE: We sought to assess the value of specific dermoscopic features for diagnosing melanocytic neoplasms arising on the breast area in females...
August 2016: Journal of the American Academy of Dermatology
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