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Spitz neoplasms

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
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
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...
August 5, 2016: Journal of the American Academy of Dermatology
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 demonstrate that NTRK3 fusions constitutively activate the MAPK, PI3K and PLCγ1 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 currently no targeted options exist...
August 1, 2016: Journal of Pathology
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
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
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
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
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
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
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
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
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
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
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
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
Seungjae Lee, Raymond L Barnhill, Reinhard Dummer, James Dalton, Jianrong Wu, Alberto Pappo, Armita Bahrami
Spitzoid neoplasms constitute a morphologically distinct category of melanocytic tumors, encompassing Spitz nevus (benign), atypical Spitz tumor (intermediate malignant potential), and spitzoid melanoma (fully malignant). Currently, no reliable histopathological criteria or molecular marker is known to distinguish borderline from overtly malignant neoplasms. Because TERT promoter (TERT-p) mutations are common in inherently aggressive cutaneous conventional melanoma, we sought to evaluate their prognostic significance in spitzoid neoplasms...
2015: Scientific Reports
Justin P Bandino, Viktoryia Kazlouskaya, Şeniz Ergin, Paula Molés-Poveda, Nathan J Cleaver, Filamer D Kabigting, Jeffrey B Shackelton, Khanh Thieu, Dirk M Elston
Consumption of the epidermis associated with effacement of the rete ridge pattern has been cited as a useful criterion in the diagnosis of melanoma, but the significance of consumption in the absence of rete ridge effacement is unknown. We evaluated 701 melanocytic neoplasms for presence and 'grade' of consumption by melanocytic nests relative to diagnosis, body location, gender and age. We defined 1+ consumption as collections of melanocytes occupying greater than two thirds of the viable epidermis, with or without loss of the rete ridge pattern...
May 27, 2015: Journal of Cutaneous Pathology
Guilherme Flosi Stocchero
Storiform collagenoma is a rare tumor, which originates from the proliferation of fibroblasts that show increased production of type-I collagen. It is usually found in the face, neck and extremities, but it can also appear in the trunk, scalp and, less frequently, in the oral mucosa and the nail bed. It affects both sexes, with a slight female predominance. It may be solitary or multiple, the latter being an important marker for Cowden syndrome. It presents as a painless, solid nodular tumor that is slow-growing...
January 2015: Einstein
Celia Requena, Virginia Sanz, Eduardo Nagore, Zaida García-Casado, Luis Rubio, Carlos Guillén, Heinz Kutzner
Atypical Spitz tumor with loss of BAP1 or Wiesner nevus is a peculiar variant of intradermal spitzoid melanocytic neoplasm composed of epithelioid melanocytes with a sheet-like growth pattern, abundant infiltrating lymphocytes and rare or absent mitotic activity. This subset of atypical spitzoid tumors is characterized by the BRAF(V600E) mutation and loss of BAP1 expression. Recognition of these lesions is important because they can be a marker for a hereditary BAP1-associated cancer syndrome. We present an unusual case of sporadic Wiesner nevus that had typical histopathologic features and a BAP1 but not a BRAF mutation...
August 2015: Journal of Cutaneous Pathology
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