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https://www.readbyqxmd.com/read/29779219/immunohistochemical-and-molecular-analysis-of-spitzoid-neoplasms-with-pulverocyte-subclones
#1
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/29776637/an-update-regarding-the-molecular-genetics-of-melanocytic-neoplasms-and-the-current-applications-of-molecular-genetic-technologies-in-their-diagnosis-and-treatment
#2
REVIEW
Katrin Kiavash, Martin H Bluth, Andrew David Thompson
Molecular genetic technologies are used to aid in diagnosis and treatment of borderline melanocytic tumors as an adjuvant to the gold standard histopathologic evaluation. A specific set of fluorescence in situ hybridization probes is widely used to aid in diagnosing challenging melanocytic lesions. New melanoma probe cocktails have revealed increased sensitivity and specificity in ambiguous melanocytic cases. Array comparative genomic hybridization is a more complex technology used for the work-up of diagnostically problematic Spitzoid melanocytic proliferations...
June 2018: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29771688/plexiform-atypical-spitz-tumor-with-rosette-like-giant-cells-a-histologic-and-immunohistochemical-study-on-a-case-suggesting-ganglioneuroblastic-differentiation-review-of-the-literature-and-considerations-on-histogenesis
#3
Elena Castelli, Elisabetta Orlando, Giuseppe Pistone, Maria R Bongiorno
Spitz nevi, atypical Spitz tumors and Spitzoid melanoma, the three clinicopathologic forms that constitute the spectrum of the Spitz-type melanocytic lesions, share a histologic picture characterized by large spindle and/or epithelioid ganglion-like cells, with various admixtures of multinucleate bizarre cells. This remarkable cytology has always been interpreted as an unusual, as well as unexplained form of atypia. We report a case of atypical Spitz tumor with Homer Wright-like rosettes, a feature characteristic of ganglioneuroblastic proliferation...
May 16, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29753057/histomorphologic-spectrum-of-germline-related-and-sporadic-bap-1-inactivated-melanocytic-tumors
#4
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/29752733/the-difficulty-in-interpreting-gene-expression-profiling-in-bap1-negative-melanocytic-tumors
#5
Andrew S Fischer, Whitney A High
BACKGROUND: BAP1 negative melanocytic tumors were unrecognized in the medical literature until 2011. While the clinical significance of these tumors is poorly understood, there is concern such lesions represent processes in transition, and malignant degeneration is a concern. We investigated use of a 23-gene expression profiling (23-GEP) test for distinction from melanoma with the aim of better characterizing the biologic potential of such tumors. METHODS: Twenty BAP1 negative melanocytic tumors, subjected to 23-GEP (Myriad Genetic Laboratories, Inc...
May 12, 2018: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/29719828/spitzoid-neoplasms-suggestions-from-genomic-aberrations
#6
Carmelo Urso
No abstract text is available yet for this article.
January 2018: Dermatopathology (Basel, Switzerland)
https://www.readbyqxmd.com/read/29683819/primary-and-metastatic-melanoma-with-ntrk-fusions
#7
Cecilia Lezcano, Alexander N Shoushtari, Charlotte Ariyan, Travis J Hollmann, Klaus J Busam
A number of oncogenic driver mutations have been identified in melanocytic nevi and melanoma, but translocations also play a role in tumorigenesis and provide potential therapeutic targets for malignant lesions. Various translocations, such as those involving the anaplastic lymphoma kinase (ALK), neurotrophic tropomyosin receptor kinase 1 (NTRK1), and NTRK3 have been reported in spitzoid melanocytic neoplasms leading to kinase-fusion proteins that result in immunohistochemically detectable ALK or NTRK expression...
April 20, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29623743/immunoexpression-of-bap1-ros1-and-alk-in-spitzoid-melanocytic-tumors
#8
Leonardo Cardili, Cristiano Ribeiro Viana, Andressa Germano, Mariana Fernandes, Denise Barcellos, Gilles Landman
BACKGROUND: Spitzoid tumors are a heterogeneous group of melanocytic neoplasms that frequently imposes diagnostic difficulties. Lately, several advances in molecular biology afforded significant discoveries on the pathogenesis of these tumors. BAP1 (BRCA-1 associated protein-1) inactivation and anomalous expression of kinase translocation-related proteins are among the main criteria launched by new classification proposals. Our aim was to systematically assess the immunoexpression of BAP1, ROS1 (receptor tyrosine kinase c-Ros oncogene 1), and ALK (anaplastic lymphoma receptor tyrosine kinase) proteins in an unpublished series of spitzoid tumors...
April 1, 2018: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29607755/common-and-not-so-common-melanocytic-lesions-in-children-and-adolescents
#9
Chen Yang, Alejandro A Gru, Louis P Dehner
The acquired melanocytic nevus is the most common lesion encountered by pediatric pathologists and dermatopathologists in their daily practice. In most cases, there are few difficulties in histopathologic diagnosis. However, it is the acquired melanocytic lesion known as the Spitz nevus, with its intrinsic atypical features which becomes the challenge since it exists along a histopathologic and biologic continuum from the atypical Spitz tumor to spitzoid melanoma. The frustration with some of these spitzoid lesions is that even the "experts" cannot agree as to the differentiation of one from the other even at the level of molecular genetics...
March 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29600692/the-window-of-opportunities-for-targeted-therapy-in-brafwt-nraswt-kitwt-melanoma-biology-and-clinical-implications-of-fusion-proteins-and-other-mutations
#10
Marina Berger, Georg Richtig, Karl Kashofer, Ariane Aigelsreiter, Erika Richtig
Treatment options in advanced melanoma have been subject to a major change over the last years. The discovery of the oncogenic point mutation BRAFV600E and subsequently developed BRAF inhibitors had a major impact on patient's survival. Further important mutations have been found in the NRAS gene, although not yet druggable, and others involve c-kit in acral and mucosal melanoma. Imatinib was shown to achieve high response rates in c-kit mutated melanoma. Despite good response rates in these targeted therapies and introduction of immunotherapy, there are still patients left, who develop resistance upon therapy or patients without the option of targeted therapy...
March 29, 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29569376/contrasting-features-of-childhood-and-adolescent-melanomas
#11
Diana W Bartenstein, Cassandra M Kelleher, Alison M Friedmann, Lyn M Duncan, Hensin Tsao, Arthur J Sober, Elena B Hawryluk
BACKGROUND/OBJECTIVES: Melanoma in children and adolescents is uncommon, and there are limited data on pediatric outcomes. Several studies have shown comparable survival rates in children and adults, but other research demonstrates that prepubescent children have more favorable outcomes. This study aims to compare childhood and adolescent melanoma. METHODS: Retrospective cohort study of children who received a melanoma diagnosis at the Massachusetts General Hospital between January 1, 1995, and December 21, 2016...
March 23, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29537991/acral-spitz-nevi-a-clinicopathologic-study-of-50-cases-with-immunohistochemical-analysis-of-p16-and-p21-expression
#12
Katharina Wiedemeyer, Antonio Guadagno, Jonathan Davey, Thomas Brenn
Spitz nevi on acral sites are rare and poorly documented. The combination of Spitzoid cytomorphology and atypical architectural features of the junctional component may lead to an erroneous diagnosis of melanoma. To study the clinicopthologic and immunohistochemical features, 50 Spitz nevi localized on the distal extremities were retrieved from departmental files. Clinical data and follow-up were obtained and the histologic features were analyzed. P16 and P21 immunohistochemical staining of the dermal component was compared with that of 10 acral lentiginous melanomas and 10 acral nevi...
June 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29514107/a-case-report-of-atypical-spitz-tumor-harboring-a-novel-mlph-alk-gene-fusion-with-discordant-alk-immunohistochemistry-results
#13
Masakazu Fujimoto, Yuki Togashi, Ibu Matsuzaki, Satoko Baba, Kengo Takeuchi, Yutaka Inaba, Masatoshi Jinnin, Shin-Ichi Murata
Frequent kinase fusions have been reported in spitzoid neoplasms, approximately 10% of which involve ALK rearrangements. Herein, we report a case of atypical Spitz tumour (AST) with a novel MLPH-ALK fusion, which has not been previously reported to contribute to cancer development. The tumour was detected in the right arm of a 40-year-old woman. The novel ALK fusion was identified by a 5'-rapid amplification of cDNA ends-based system optimised for formalin-fixed paraffin-embedded tissue. Initially, ALK expression was detected by immunohistochemistry (IHC) using 5A4 antibodies for both sensitive and conventional polymer detection method...
March 4, 2018: Human Pathology
https://www.readbyqxmd.com/read/29489509/the-amount-of-melanin-influences-p16-loss-in-spitzoid-melanocytic-lesions-correlation-with-cdkn2a-status-by-fish-and-mlpa
#14
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
https://www.readbyqxmd.com/read/29485257/pediatric-melanoma-update
#15
Lindsay McCORMACK, Elena B Hawryluk
Pediatric melanoma is a rare disease that affects approximately 6 out of every one million children and accounts for 1-4 percent of all melanomas. This article reviews the epidemiology, etiology, diagnosis, treatment and prognosis of pediatric melanoma - with particular attention to recent updates in the literature. While awareness of melanoma increases among the general population, recent data suggest stable and even declining incidence rates among certain pediatric populations. Studies have examined clinical features and presentations of melanoma among the pediatric population and the conventional ABCDE criteria used to diagnosis adult melanoma may not be entirely appropriate for pediatric melanoma; as such, additional pediatric-ABCD and CUP criteria have been proposed...
February 26, 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29464327/unclassified-sclerosing-malignant-melanomas-with-akap9-braf-gene-fusion-a-report-of-two-cases-and-review-of-braf-fusions-in-melanocytic-tumors
#16
REVIEW
Emilie Perron, Daniel Pissaloux, Angela Neub, Daniel Hohl, Marie Dominique Tartar, Laurent Mortier, Laurent Alberti, Arnaud de la Fouchardiere
The current classification of melanocytic tumors includes clinical, pathological, and molecular data. A subset of lesions remains difficult to classify according to these complex multilayer schemes. We report two cases of deeply infiltrating melanomas with a sclerosing background. The first case occurred on the back of a middle-aged man appearing clinically as a dermatofibroma. The architectural and cytological aspects resembled those of a desmoplastic melanoma but the strong expression of both melanA and HMB45, two stainings usually reported as negative in this entity, raised the question of an alternate diagnosis...
March 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29405264/agminated-spitz-naevi-or-metastatic-spitzoid-melanoma
#17
Marloes Sophia van Kester, Celine Eggen, Auke Beishuizen, Nicole Ariane Kukutsch
No abstract text is available yet for this article.
February 5, 2018: Australasian Journal of Dermatology
https://www.readbyqxmd.com/read/29314288/the-limitations-of-dermoscopy-false-positive-and-false-negative-tumours
#18
REVIEW
V Papageorgiou, Z Apalla, E Sotiriou, C Papageorgiou, E Lazaridou, S Vakirlis, D Ioannides, A Lallas
Dermoscopy has been documented to increase the diagnostic accuracy of clinicians evaluating skin tumours, improving their ability to detect skin cancer and better recognize benign moles. However, dermoscopically 'false-positive' and 'false-negative' tumours do exist. False-positive diagnosis usually leads to unnecessary excisions. False-negative diagnosis is much more dangerous, as it might result in overlooking a cancer, with severe undesirable consequences for the patient and the physician. Therefore, management strategies should mainly focus on addressing the risk of dermoscopically false-negative tumours...
January 5, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29227334/quantitative-assessment-of-neuropilin-2-as-a-simple-and-sensitive-diagnostic-assay-for-spitzoid-melanocytic-lesions
#19
Anna Eisenstein, Izabela P Panova, Hye J Chung, Lynne J Goldberg, Qing Zhang, Rossitza Lazova, Jag Bhawan, Klaus J Busam, James T Symanowski, Rhoda M Alani, Byungwoo Ryu
There is a significant need for the development of diagnostic tools that can precisely distinguish Spitz nevi and spitzoid melanomas. Here, we report the development of a PCR-based quantitative diagnostic assay for spitzoid melanocytic lesions utilizing the expression ratio of neuropilin-2 and melan-A genes in primary tumor specimens. We find that the expression ratio of neuropilin-2/melan-A is significantly increased in spitzoid melanomas compared with Spitz nevi. The diagnostic potential of this quantitative assay was validated in two independent sets of patient samples as demonstrated in a receiver operating characteristic curve analysis showing an area under the curve value of 91...
February 2018: Melanoma Research
https://www.readbyqxmd.com/read/29169801/evaluating-melanocytic-lesions-with-single-nucleotide-polymorphism-snp-chromosomal-microarray
#20
Amin A Hedayat, Konstantinos Linos, Hou-Sung Jung, Laura J Tafe, Shaofeng Yan, Robert E LeBlanc, Joel A Lefferts
Histopathology is the gold standard for diagnosing melanocytic lesions; however, distinguishing benign versus malignant is not always clear histologically. Single nucleotide polymorphism (SNP) microarray analysis may help in making a definitive diagnosis. Here, we share our experience with the Oncoscan FFPE Assay and demonstrate its diagnostic utility in the context of ambiguous melanocytic lesions. Eleven archival melanocytic lesions, including three benign nevi, four melanomas, three BAP1-deficient Spitzoid nevi and one nevoid melanoma were selected for validation...
December 2017: Experimental and Molecular Pathology
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