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Spitz neoplasms

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https://www.readbyqxmd.com/read/27874879/bullous-pemphigoid-associated-with-a-lymphoepithelial-cyst-of-the-pancreas
#1
Preston W Chadwick, Francis R Spitz, Daniel M Kwa, Waine C Johnson, Warren R Heymann
Bullous pemphigoid (BP) is an acquired, autoimmune, subepidermal blistering disorder. A possible paraneoplastic association has been suggested; however, debate remains regarding the precise relationship of these neoplasms with BP. We present a case of recalcitrant BP in a 67-year-old man with a pancreatic neoplasm that was found to be a lymphoepithelial cyst. Immunoperoxidase staining of the cyst demonstrated C3d along the basement membrane of the stratified squamous epithelium, suggesting that the BP may have involved the lymphoepithelial cyst itself...
October 2016: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/27874206/spitz-nevi-and-other-spitzoid-neoplasms-in-children-overview-of-incidence-data-and-diagnostic-criteria
#2
REVIEW
Emi Dika, Giulia Maria Ravaioli, Pier Alessandro Fanti, Iria Neri, Annalisa Patrizi
Spitz nevi are benign melanocytic neoplasms characterized by epithelioid or spindle melanocytes or both. In some rare cases their presentation overlaps with the clinical and histopathologic features of malignant melanoma, so a differential diagnosis can be difficult to make. Intermediate forms between Spitz nevi and malignant melanoma, with unpredictable behavior, have been called atypical Spitz tumors. A literature search was performed to review the clinical, dermoscopic, genetic, and histopathologic aspects of spitzoid tumors...
November 22, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27860221/spitz-nevi-diverse-clinical-dermatoscopic-and-histopathological-features-in-childhood
#3
Emi Dika, Iria Neri, Pier Alessandro Fanti, Alessia Barisani, Giulia Maria Ravaioli, Annalisa Patrizi
BACKGROUND AND OBJECTIVES: The characterization of clinical features and biological potential of Spitz nevi has attracted a lot of interest in past decades. The aim of our paper was to describe the clinical, dermatoscopic features as well as the clinical outcome of surgically excised Spitz nevi in three different pediatric age groups. PATIENTS AND METHODS: A retrospective study analyzing clinical features, videodermatoscopic images, histopathological diagnosis and patient outcome...
November 10, 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/27776007/a-comparison-of-morphologic-and-molecular-features-of-braf-alk-and-ntrk1-fusion-spitzoid-neoplasms
#4
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...
October 21, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27569296/loss-of-p16-expression-and-copy-number-changes-of-cdkn2a-in-a-spectrum-of-spitzoid-melanocytic-lesions
#5
Paul W Harms, Thomas L Hocker, Lili Zhao, May P Chan, Aleodor A Andea, Min Wang, Kelly L Harms, Michael L Wang, Shannon Carskadon, Nallasivam Palanisamy, Douglas R Fullen
Spitzoid melanocytic lesions, including Spitz nevi (benign), spitzoid melanoma (malignant), and borderline atypical Spitz tumors (ASTs), frequently present challenges for accurate diagnosis and prognosis. Evaluation for loss of the tumor suppressor p16, encoded by CDKN2A gene on chromosome 9p21.3, has been proposed to be useful for evaluation of spitzoid melanocytic lesions. However, reports on the utility of p16 immunohistochemistry for spitzoid lesions have been conflicting, and few studies have directly compared p16 immunohistochemistry with fluorescence in situ hybridization (FISH) for CDKN2A genomic status...
August 25, 2016: Human Pathology
https://www.readbyqxmd.com/read/27542585/nuclear-and-cytoplasmic-features-in-the-diagnosis-of-banal-nevi-spitz-nevi-and-melanoma
#6
Manuel Valdebran, Amira Elbendary, Sri Krishna Chaitanya Arudra, Kara Melissa Torres, Inas Elattar, Dirk M Elston
BACKGROUND: Many authors have described cytologic features in a variety of melanocytic lesions but, to our knowledge, a statistical analysis of sensitivity, specificity, and overall accuracy of these features alone or in combination has not been performed. OBJECTIVE: We sought to determine the diagnostic value of nuclear and cytoplasmic characteristics in the diagnosis of melanocytic lesions via multivariate statistical analysis. METHODS: This is a retrospective observational study conducted on 300 melanocytic lesions...
November 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/27502312/imaging-mass-spectrometry-assists-in-the-classification-of-diagnostically-challenging-atypical-spitzoid-neoplasms
#7
Rossitza Lazova, Erin H Seeley, Heinz Kutzner, Richard A Scolyer, Glynis Scott, Lorenzo Cerroni, Isabella Fried, Milena E Kozovska, Arlene S Rosenberg, Victor G Prieto, Bahig M Shehata, Megan M Durham, Gina Henry, Jose L Rodriguez-Peralto, Erica Riveiro-Falkenbach, Jochen T Schaefer, Richard Danialan, Sylvie Fraitag, Sonja Vollenweider-Roten, Alireza Sepehr, Martin Sangueza, Nouf Hijazi, Yamile Corredoira, Rachel Kowal, Olga M Harris, Francisco Bravo, Alan S Boyd, Ralitza Gueorguieva, Richard M Caprioli
BACKGROUND: Previously, using imaging mass spectrometry (IMS), we discovered proteomic differences between Spitz nevi and Spitzoid melanomas. OBJECTIVE: We sought to determine whether IMS can assist in the classification of diagnostically challenging atypical Spitzoid neoplasms (ASN), to compare and correlate the IMS and histopathological diagnoses with clinical behavior. METHODS: We conducted a retrospective collaborative study involving centers from 11 countries and 11 US institutions analyzing 102 ASNs by IMS...
December 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/27477320/ntrk3-kinase-fusions-in-spitz-tumours
#8
Iwei Yeh, Meng Kian Tee, Thomas Botton, A Hunter Shain, Alyssa J Sparatta, Alexander Gagnon, Swapna S Vemula, Maria C Garrido, Kenji Nakamaru, Takeshi Isoyama, Timothy H McCalmont, Philip E LeBoit, Boris C Bastian
Oncogenic fusions in TRK family receptor tyrosine kinases have been identified in several cancers and can serve as therapeutic targets. We identified ETV6-NTRK3, MYO5A-NTRK3 and MYH9-NTRK3 fusions in Spitz tumours, and demonstrated that NTRK3 fusions constitutively activate the mitogen-activated protein kinase, phosphoinositide 3-kinase and phospholipase Cγ1 pathways in melanocytes. This signalling was inhibited by DS-6051a, a small-molecule inhibitor of NTRK1/2/3 and ROS1. NTRK3 fusions expand the range of oncogenic kinase fusions in melanocytic neoplasms and offer targets for a small subset of melanomas for which no targeted options currently exist...
November 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27391457/atypical-spitzoid-neoplasms-in-childhood-a-molecular-and-outcome-study
#9
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...
July 7, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27222771/time-to-reconsider-spitzoid-neoplasms
#10
REVIEW
Carmelo Urso
BACKGROUND: Spitzoid neoplasms may pose significant diagnostic problems because in a fraction of them it is quite difficult or impossible to establish if they are benign or malignant lesions. An extraordinarily large number of studies have been made in attempts to solve this problem; regrettably, the histological criteria proposed and the various special sophisticated techniques employed have proven to be ineffective in making this distinction with confidence. OBJECTIVES: To explore the possible causes for this diagnostic failure and an attempt to identify the source of this problem...
April 2016: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/27173829/differential-diagnosis-of-spitzoid-melanocytic-neoplasms
#11
REVIEW
C Stefanaki, K Stefanaki, L Chardalias, E Soura, A Stratigos
Atypical Spitzoid neoplasms represent a controversial and incompletely defined diagnostic category for lesions with intermediate architecture and cytomorphology between Spitz nevus and melanoma. The vast majority of these neoplasms have a good overall prognosis. Only a small proportion of patients will end up developing distant metastases and death. The distinction between Spitz tumours with atypical features and Spitzoid melanoma remains difficult on clinical and histological grounds and the prediction of the biological behaviour of those tumours even with sentinel lymph node biopsy is impossible...
August 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27152444/immunohistochemical-evaluation-of-p16-expression-in-cutaneous-histiocytic-fibrohistiocytic-and-undifferentiated-lesions
#12
Emily H Smith, Lori Lowe, Paul W Harms, Douglas R Fullen, May P Chan
BACKGROUND: Expression of p16 is frequently evaluated in melanocytic lesions. Expression of p16 in cutaneous histiocytic, fibrohistiocytic and undifferentiated lesions has not been well characterized. METHODS: We evaluated p16 expression in a cohort of histiocytic (reticulohistiocytoma, Langerhans cell histiocytosis, xanthogranuloma, Rosai Dorfman disease and xanthoma), fibrohistiocytic (dermatofibroma, epithelioid fibrous histiocytoma and dermatofibrosarcoma protuberans) and undifferentiated (atypical fibroxanthoma and pleomorphic undifferentiated sarcoma) lesions...
August 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27020388/paediatric-melanoma
#13
Benjamin A Wood
Cutaneous melanoma occurs only rarely in children under 10 years of age. Mimics of melanoma, including Spitz naevi and proliferative nodules in congenital melanocytic naevi are much more frequent in this age group. Melanoma arising in congenital melanocytic naevus is uncommon, but can show aggressive behaviour. Although spitzoid lesions constitute the majority of 'diagnostically challenging' cases, they are an uncommon cause of mortality in this age group. Among lesions with undoubted metastatic potential, there are biologically distinct tumours which differ significantly in behaviour from the common types of melanoma seen in adults...
February 2016: Pathology
https://www.readbyqxmd.com/read/26999337/fluorescence-in-situ-hybridization-for-melanoma-diagnosis-a-review-and-a-reappraisal
#14
Gerardo Ferrara, Anna Chiara De Vanna
Although conventional histopathological examination is the undisputable mainstay for the diagnosis of melanocytic skin neoplasms, fluorescence in situ hybridization (FISH) has the potential to provide important information to morphologically challenging cases. The standard melanoma FISH test targeting RREB1 (6p25), MYB (6q23), CCND1 (11q13), and centromere 6 is an effective compromise between cost, technical complexity, and sensitivity. The authors use the standard FISH-positivity as a tie-breaker for challenging melanocytic neoplasms mainly in a non-Spitzoid morphologic context because the currently available test leaves several unresolved issues: namely, a relatively low diagnostic accuracy in morphologically ambiguous melanocytic neoplasms; a relatively low sensitivity and specificity in Spitzoid neoplasms; and the occurrence of false positives due to tetraploidy in Spitz nevi and in nevi with an atypical epithelioid component...
April 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/26873340/spitz-tumors-comparison-of-histological-features-in-relationship-to-immunohistochemical-staining-for-alk-and-ntrk1
#15
Maija Kiuru, Achim Jungbluth, Heinz Kutzner, Thomas Wiesner, Klaus J Busam
Spitz tumors are a group of melanocytic neoplasms with distinct morphological features that tend to affect young individuals. Distinguishing benign from malignant Spitz tumors can be challenging, but cytogenetic and molecular tests have contributed to improvements in diagnostic accuracy. Spitz tumors harbor diverse genetic alterations, including mutations in HRAS, loss of BAP1, or kinase fusions in ROS1, NTRK1, ALK, BRAF, and RET genes. Limited data exist on the correlation between histopathological features and kinase fusions...
May 2016: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/26872010/primary-and-metastatic-cutaneous-melanomas-express-alk-through-alternative-transcriptional-initiation
#16
Klaus J Busam, Ricardo E Vilain, Trina Lum, Jonathan A Busam, Travis J Hollmann, Robyn P M Saw, Daniel C Coit, Richard A Scolyer, Thomas Wiesner
A number of common driver mutations have been identified in melanoma, but other genetic or epigenetic aberrations are also likely to play a role in the pathogenesis of melanoma and present potential therapeutic targets. Translocations of the anaplastic lymphoma kinase (ALK), for example, have been reported in spitzoid melanocytic neoplasms leading to kinase-fusion proteins that result in immunohistochemically detectable ALK expression. In this study, we sought to determine whether ALK was also expressed in nonspitzoid primary and metastatic cutaneous melanomas...
June 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/26779311/simulants-of-malignant-melanoma
#17
REVIEW
Gérald E Piérard, Claudine Piérard-Franchimont, Philippe Delvenne
During the recent period, dermoscopy has yielded improvement in the early disclosure of various atypical melanocytic neoplasms (AMN) of the skin. Beyond this clinical procedure, AMN histopathology remains mandatory for establishing their precise diagnosis. Of note, panels of experts in AMN merely report moderate agreement in various puzzling cases. Divergences in opinion and misdiagnosis are likely increased when histopathological criteria are not fine-tuned and when facing a diversity of AMN types. Furthermore, some AMN have been differently named in the literature including atypical Spitz tumor, metastasizing Spitz tumor, borderline and intermediate melanocytic tumor, malignant Spitz nevus, pigmented epithelioid melanocytoma or animal-type melanoma...
February 10, 2015: Oncology Reviews
https://www.readbyqxmd.com/read/26414472/atypical-spitz-tumors-a-diagnostic-challenge
#18
REVIEW
Kelly L Harms, Lori Lowe, Douglas R Fullen, Paul W Harms
Spitzoid melanocytic lesions encompass a spectrum from benign Spitz nevi to malignant spitzoid melanomas. Spitzoid melanocytic neoplasms have significant morphologic and molecular differences from conventional melanocytic lesions, and prediction of biologic behavior and metastatic risk may be difficult. Most challenging is the atypical Spitz tumor, a borderline spitzoid melanocytic lesion of uncertain malignant potential that has overlapping histologic features with conventional Spitz nevus and spitzoid melanoma...
October 2015: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/26319099/cross-cancer-genomic-investigation-of-inflammation-pathway-for-five-common-cancers-lung-ovary-prostate-breast-and-colorectal-cancer
#19
Rayjean J Hung, Cornelia M Ulrich, Ellen L Goode, Yonathan Brhane, Kenneth Muir, Andrew T Chan, Loic Le Marchand, Joellen Schildkraut, John S Witte, Rosalind Eeles, Paolo Boffetta, Margaret R Spitz, Julia G Poirier, David N Rider, Brooke L Fridley, Zhihua Chen, Christopher Haiman, Fredrick Schumacher, Douglas F Easton, Maria Teresa Landi, Paul Brennan, Richard Houlston, David C Christiani, John K Field, Heike Bickeböller, Angela Risch, Zsofia Kote-Jarai, Fredrik Wiklund, Henrik Grönberg, Stephen Chanock, Sonja I Berndt, Peter Kraft, Sara Lindström, Ali Amin Al Olama, Honglin Song, Catherine Phelan, Nicholas Wentzensen, Ulrike Peters, Martha L Slattery, Thomas A Sellers, Graham Casey, Stephen B Gruber, David J Hunter, Christopher I Amos, Brian Henderson
BACKGROUND: Inflammation has been hypothesized to increase the risk of cancer development as an initiator or promoter, yet no large-scale study of inherited variation across cancer sites has been conducted. METHODS: We conducted a cross-cancer genomic analysis for the inflammation pathway based on 48 genome-wide association studies within the National Cancer Institute GAME-ON Network across five common cancer sites, with a total of 64 591 cancer patients and 74 467 control patients...
November 2015: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/26300491/genetics-of-melanocytic-nevi
#20
REVIEW
Mi Ryung Roh, Philip Eliades, Sameer Gupta, Hensin Tsao
Melanocytic nevi are a benign clonal proliferation of cells expressing the melanocytic phenotype, with heterogeneous clinical and molecular characteristics. In this review, we discuss the genetics of nevi by salient nevi subtypes: congenital melanocytic nevi, acquired melanocytic nevi, blue nevi, and Spitz nevi. While the molecular etiology of nevi has been less thoroughly studied than melanoma, it is clear that nevi and melanoma share common driver mutations. Acquired melanocytic nevi harbor oncogenic mutations in BRAF, which is the predominant oncogene associated with melanoma...
November 2015: Pigment Cell & Melanoma Research
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