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Dermatopathology molecular

Nirmala Pandeya, Marina Kvaskoff, Catherine M Olsen, Adèle C Green, Susan Perry, Catherine Baxter, Marcia B Davis, Rohan Mortimore, Lorraine Westacott, Dominic Wood, Joe Triscott, Richard Williamson, David C Whiteman
A proportion of cutaneous melanomas display neval remnants on histologic examination. Converging lines of epidemiologic and molecular evidence suggest that melanomas arising from nevus precursors differ from melanomas arising de novo. In a large, population-based study comprising 636 cutaneous melanomas subjected to dermatopathology review, we explored the molecular, host, and environmental factors associated with the presence of neval remnants. We found that nevus-associated melanomas were significantly associated with younger age at presentation, non-brown eye color, trunk site, thickness of less than 0...
March 7, 2018: Journal of Investigative Dermatology
Carolina Martinez Ciarpaglini, Jose Gonzalez, Beatriz Sanchez, Jaime Agusti, Lara Navarro, Gema Nieto, Carlos Monteagudo
AIMS: The risk assessment of spitzoid lesions is one of the most difficult challenges in dermatopathology practice. In this regard, the loss of p16 expression and the homozygous deletion of CDKN2A, have been pointed in the literature as reliable indicators of high risk. However, these findings are poorly reproducible, and the molecular bases underlying the loss of p16 expression remain unclear. We aimed to identify the underlying events causing loss of CDKN2A/p16 in spitzoid tumors. MATERIALS AND METHODS: We evaluated the immunohistochemical expression of p16, and the presence of CDKN2A genetic alterations detected through fluorescence in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA), in a series of 130 Spitz nevi, 20 atypical spitzoid tumors, and 11 spitzoid melanoma...
February 27, 2018: Applied Immunohistochemistry & Molecular Morphology: AIMM
Kristin Torre, Preeti Jhorar, Rong Wu, John Pfeifer, Zendee Elaba, Michael Murphy
BACKGROUND: We evaluated how dermatopathologists are employing molecular testing in the setting of neoplastic skin diseases, and assessed their opinions of the broader role and utility of molecular technologies in clinical practice. METHODS: A 15-question online survey was sent to Fellows of the American Society of Dermatopathology in April 2017. RESULTS: One hundred and thirty-six dermatopathologists completed the survey (response rate = 16%)...
February 13, 2018: Journal of Cutaneous Pathology
Tsung-Ju Lee, Yu-Hung Wu
BACKGROUND: Epidermolytic acanthoma (EA) is an uncommon benign cutaneous lesion. Multiple epidermolytic acanthomas (multiple EAs) are rarely reported. METHODS: We retrospectively identified patients diagnosed with multiple EAs between 2005 and 2017 from our dermatopathology database and analyzed their clinical, pathological, and immunohistochemical features. We also evaluated the association of multiple EAs with human papillomavirus (HPV) infection. RESULTS: In total, eight patients (average age 51 years; 3 : 1 male predominance) with multiple EAs were found...
January 2018: International Journal of Dermatology
Julia Liersch, Amelie von Köckritz, Jörg Schaller
The present CME article highlights fundamental aspects with respect to the histopathology of the most common skin tumors (epidermal, adnexal, melanocytic, and mesenchymal), their laboratory workup, as well as the importance of supplementary immunohistochemical and molecular studies. The information provided is meant to assist experienced clinicians in choosing the correct biopsy technique and in interpreting dermatopathology reports, and to provide dermatology residents with a better understanding of dermatopathology...
September 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
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
Kristin Torre, Kristen Russomanno, Tammie Ferringer, Dirk Elston, Michael J Murphy
BACKGROUND: Molecular technologies offer clinicians the tools to provide high-quality, cost-effective patient care. We evaluated education focused on molecular diagnostics, genomics, and personalized medicine in dermatopathology fellowship training. DESIGN: A 20-question online survey was emailed to all (n = 53) Accreditation Council for Graduate Medical Education (ACGME)-accredited dermatopathology training programs in the United States. RESULTS: Thirty-one of 53 program directors responded (response rate = 58%)...
January 2018: American Journal of Dermatopathology
Victoria Alegría-Landa, Socorro María Rodríguez-Pinilla, Angel Santos-Briz, José Luis Rodríguez-Peralto, Victor Alegre, Lorenzo Cerroni, Heinz Kutzner, Luis Requena
Importance: Histiocytoid Sweet syndrome is a rare histopathologic variant of Sweet syndrome. The nature of the histiocytoid infiltrate has generated considerable controversy in the literature. Objective: The main goal of this study was to conduct a comprehensive overview of the immunohistochemical phenotype of the infiltrate in histiocytoid Sweet syndrome. We also analyze whether this variant of Sweet syndrome is more frequently associated with hematologic malignancies than classic Sweet syndrome...
July 1, 2017: JAMA Dermatology
José Carlos Cardoso, Ophelia Veraitch, Raffaele Gianotti, Gerardo Ferrara, Carlo F Tomasini, Manuraj Singh, Iris Zalaudek, Catherine M Stefanato
The stratum corneum or horny layer is the uppermost layer of the epidermis, and is mainly responsible for the skin's barrier function. In spite of its complexity at the ultrastructural and molecular level, the features accessible to visualization on conventional histology are relatively limited. Nevertheless, knowledge of subtle clues that one may observe in the stratum corneum can prove useful in a wide range of situations in dermatopathology. We herein review a selection of common and rare entities in which the horny layer may reveal significantly important hints for the diagnosis...
March 2017: Journal of Cutaneous Pathology
Yann Vincent Charli-Joseph, Michelle Gatica-Torres, Laura Beth Pincus
Cutaneous lymphoid infiltrates (CLIs) are common in routine dermatopathology. However, differentiating a reactive CLI from a malignant lymphocytic infiltrate is often a significant challenge since many inflammatory dermatoses can clinically and/or histopathologically mimic cutaneous lymphomas, coined pseudolymphomas. We conducted a literature review from 1966 to July 1, 2015, at using the search terms: Cutaneous lymphoma, cutaneous pseudolymphoma, cutaneous lymphoid hyperplasia, simulants/mimics/imitators of cutaneous lymphomas, and cutaneous lymphoid infiltrates...
July 2016: Indian Journal of Dermatology
Angel Fernandez-Flores, Marcela Saeb-Lima
Mucins are high-molecular weight glycoproteins typically found in normal skin in small amounts. There are several reports regarding different types of cutaneous mucinosis. In this report, we discuss mucins in dermatopathology as a diagnostic clue of some well-known entities and some less frequent cutaneous diseases. We also emphasize mucin as a sign in the differential diagnosis between conditions that show histopathological overlap. Lastly, we discuss the locations and circumstances in which mucin could be considered almost normal or physiological...
November 2016: Journal of Cutaneous Pathology
Iwei Yeh
According to the multi-step carcinogenesis model of cancer, initiation results in a benign tumor and subsequent genetic alterations lead to tumor progression and the acquisition of the hallmarks of cancer. This article will review recent discoveries in our understanding of initiation and progression in melanocytic neoplasia and the impact on diagnostic dermatopathology.
2016: F1000Research
Jeong Hee Cho-Vega
Atypical spitzoid tumors are a morphologically diverse group of rare melanocytic lesions most frequently seen in children and young adults. As atypical spitzoid tumors bear striking resemblance to Spitz nevus and spitzoid melanomas clinically and histopathologically, it is crucial to determine its malignant potential and predict its clinical behavior. To date, many researchers have attempted to differentiate atypical spitzoid tumors from unequivocal melanomas based on morphological, immonohistochemical, and molecular diagnostic differences...
July 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Rami N Al-Rohil, Jonathan L Curry, Carlos A Torres-Cabala, Priyadharsini Nagarajan, Doina Ivan, Phyu P Aung, Genevieve F Lyons, Roland L Bassett, Victor G Prieto, Michael T Tetzlaff
The diagnosis of melanocytic lesions remains a formidable challenge in dermatopathology. For diagnostically challenging lesions, ancillary tests are available to inform the diagnosis, including immunohistochemistry and molecular testing (particularly fluorescence in situ hybridization [FISH]). However, the test result that most robustly informs the diagnosis remains controversial. Thirty-seven diagnostically challenging melanocytic lesions from our consultation service were reviewed. Histopathologic, immunohistochemical, and second-generation FISH results (NeoGenomics; probes 6p25, 8q24, 11q13, 9p21, and centromere 9) were correlated with the final consensus diagnosis and clinical follow-up using logistic regression and Fisher exact test...
July 2016: Human Pathology
Daniel C Zedek, Timothy H McCalmont
Spitz nevi and melanoma represent benign and malignant counterparts commonly coupled in the same differential diagnosis. The precise distinction between the two entities remains an ongoing challenge in dermatopathology and surgical pathology. In past years, considerable work has been devoted to the assembly of criteria to permit exact diagnosis. Although diagnostic accuracy has improved, many lesions remain challenging to classify based solely upon conventional microscopic criteria. In this article, the clinical and histopathological attributes of Spitz nevi and spitzoid melanoma are reviewed...
September 2009: Surgical Pathology Clinics
J M Rizzo, A Oyelakin, S Min, K Smalley, J Bard, W Luo, J Nyquist, E Guttman-Yassky, T Yoshida, A De Benedetto, L A Beck, S Sinha, R-A Romano
Atopic dermatitis (AD) is the most common inflammatory skin disease with no well-delineated cause or effective cure. Here we show that the p53 family member p63, specifically the ΔNp63, isoform has a key role in driving keratinocyte activation in AD. We find that overexpression of ΔNp63 in transgenic mouse epidermis results in a severe skin phenotype that shares many of the key clinical, histological and molecular features associated with human AD. This includes pruritus, epidermal hyperplasia, aberrant keratinocyte differentiation, enhanced expression of selected cytokines and chemokines and the infiltration of large numbers of inflammatory cells including type 2  T-helper cells - features that are highly representative of AD dermatopathology...
June 2016: Cell Death and Differentiation
J C Eckert, B Ertas, T M Falk, D Metze, A Böer-Auer
BACKGROUND: Dermatophytosis is a very common skin infection with a broad clinical spectrum. Biopsies are often used to confirm the diagnosis, especially when the clinical presentation is unusual. Not uncommonly, organisms are hard to find even with periodic acid-Schiff stains. Polymerase chain reaction (PCR) for dermatophytes can be used in such cases. OBJECTIVES: To test a new PCR assay allowing species identification of dermatophytes on paraffin-embedded biopsies, and to reassess histopathological criteria for diagnosis of dermatophytosis...
April 2016: British Journal of Dermatology
Munir H Idriss, Rachita Misri, Almut Böer-Auer
BACKGROUND: Some examples of Bowen disease lack the characteristic broad parakeratosis making their histopathologic diagnosis particularly difficult in small and incomplete biopsies. MATERIALS AND METHODS: The archives of our dermatopathology laboratory were searched for cases of Bowen disease with >75% orthokeratosis (orthokeratotic Bowen disease) and classic Bowen disease (>25% parakeratosis). Selected specimens were evaluated histopathologically, using immunohistochemical stains (CK10, CK7, Bcl-2, p16 and Ki-67) and by DNA amplification/sequencing for human papilloma virus (HPV) subtypes...
January 2016: Journal of Cutaneous Pathology
P Meister
Hebra in Vienna and later Unna in Hamburg are considered to be the protagonists of academic dermatopathology in the German-speaking literature. Whereas the former used a chiefly macroscopic approach to an academic classification, the concepts of the latter were based on microscopic observations. In contrast to pathologists, who in the nineteenth century were dominated by Virchow and his teachings, dermatologists as well as microscopically active gynecologists already applied histological findings for diagnostics and subsequent therapy...
February 2015: Der Pathologe
Adriana C H van Engen-van Grunsven, Heidi Kusters-Vandevelde, Patricia J T A Groenen, Willeke A M Blokx
In this article, we give an update on recent findings regarding molecular pathology in cutaneous melanocytic tumors. The focus lies on use of genetics in the diagnosis of distinct subtypes of spitzoid tumors that are often characterized by specific phenotypic-genotypic alterations that can frequently be recognized by adequate histological examination. Typical illustrating cases are given in order to increase recognition of these lesions in daily dermatopathology practice. New molecular findings in the pathogenesis of congenital melanocytic tumors and neurocutaneous melanosis are reviewed...
2014: Frontiers in Medicine
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