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Atypical spitz tumor

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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/29773427/microphthalmia-associated-transcription-factor-mitf-promiscuous-staining-patterns-in-fibrohistiocytic-lesions-is-a-potential-pitfall
#2
Sambit K Mohanty, Shivani Sharma, Dinesh Pradhan, Shivani R Kandukuri, Navid Farahani, Catherine Barry, Julie M Wu, David Frishberg, Bonnie Balzer
Microphthalmia-associated transcription factor (MiTF) is used as a marker of melanocytic differentiation. However, MiTF immunoexpression has also been observed in histiocytes, macrophages, smooth muscle cells and fibroblasts, which raise the concern of fibrohistiocytic (FH) lesions being misdiagnosed as melanoma based on MiTF immunoreactivity. MiTF has been known to be positive in FH tumors, but this is the first study evaluating ninety-three fibrohistiocytic neoplasms to understand and delineate the staining pattern of MiTF in these tumors...
May 11, 2018: Pathology, Research and Practice
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/29719827/sentinel-node-biopsy-in-melanoma-a-short-update
#4
REVIEW
Gerardo Ferrara, Antonietta Partenzi, Alessandra Filosa
Several controversies are still ongoing about sentinel node biopsy in melanoma. It is basically a staging procedure for melanoma > 0.75 mm in thickness or for thinner melanoma in the presence of ulceration, high mitotic rate, and/or lymphovascular invasion. Complete lymph node dissection after a positive sentinel node can also allow a better locoregional disease control but seems not to prevent the development of distant metastases. The use of sentinel node biopsy in atypical Spitz tumors should be discouraged because of their peculiar biological properties...
January 2018: Dermatopathology (Basel, Switzerland)
https://www.readbyqxmd.com/read/29623743/immunoexpression-of-bap1-ros1-and-alk-in-spitzoid-melanocytic-tumors
#5
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
#6
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/29514107/a-case-report-of-atypical-spitz-tumor-harboring-a-novel-mlph-alk-gene-fusion-with-discordant-alk-immunohistochemistry-results
#7
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
#8
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/29417221/reevaluation-of-established-and-new-criteria-in-differential-diagnosis-of-spitz-nevus-and-melanoma
#9
A Ritter, M Tronnier, B Vaske, C Mitteldorf
The histopathologic differentiation between Spitz nevus and melanoma is of particular interest in routine diagnostic procedures of melanocytic tumors. Atypical Spitz nevi are sometimes difficult to distinguish from melanoma. There is still no single criterion that ensures a distinction of melanoma and atypical Spitz nevus. The aim of this study was to reevaluate established and new criteria to differentiate Spitz nevus from melanoma more reliably. We analyzed 25 melanomas with a Breslow index ≥ 1 mm and 18 classical compound Spitz nevi concerning their histopathologic, immunohistochemical and molecular genetic characteristics...
May 2018: Archives of Dermatological Research
https://www.readbyqxmd.com/read/29314288/the-limitations-of-dermoscopy-false-positive-and-false-negative-tumours
#10
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
#11
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/29028122/atypical-alk-positive-spitz-tumors-with-9p21-homozygous-deletion-report-of-two-cases-and-review-of-the-literature
#12
Andrew J Rand, Wendy L Flejter, Christopher A Dowling, Linda M Brooke, Genevieve M Boland, Daniela Kroshinsky, Isaac R Rosenblum, Marier Hernandez-Perez, Julie D R Reimann
ALK rearrangements occur in up to 10% of spitzoid melanocytic neoplasms. No reported cases have shown homozygous deletion of 9p21 (CDKN2A) or gains of 6p25 (RREB1) or 11q13 (CCND1), which have been associated with aggressive clinical behavior. Here we report 2 unique cases. Case 1 occurred in a 9-year-old male with a 14-mm nodule on the anterior left thigh. Biopsy revealed an ALK-positive Spitz tumor containing an irregular nodule of densely packed melanocytes with increased mitoses and loss of p16 immunoreactivity...
February 2018: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28862772/parallel-ridge-dermoscopic-pattern-in-plantar-atypical-spitz-nevus
#13
LETTER
R Jurakić Tončić, M Bradamante, G Ferrara, D Štulhofer-Buzina, M Petković, G Argenziano
No abstract text is available yet for this article.
March 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28802494/toward-a-molecular-genetic-classification-of-spitzoid-neoplasms
#14
REVIEW
Michael T Tetzlaff, Alexandre Reuben, Steven D Billings, Victor G Prieto, Jonathan L Curry
The histopathologic spectrum of Spitzoid neoplasms includes Spitz nevi, atypical Spitz tumors, and Spitzoid melanomas. Advances in molecular genetics have evolved to the point that Spitzoid lesions can now be reasonably classified according to their distinctive molecular-genetic alterations: Spitzoid lesions with (1) 11p amplification and/or HRAS mutations; (2) isolated loss of 6q23 by fluorescence in situ hybridization (FISH); (3) homozygous deletion of 9p21 by FISH; (4) BAP1 loss and BRAFV600 E mutation; (5) translocations involving any of a number of different oncogenic kinase drivers, including ROS1, ALK, NTRK1, NTRK3, MET, BRAF, and RET; and (6) TERT promoter mutations...
September 2017: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/28796000/genomic-analysis-of-pigmented-epithelioid-melanocytomas-reveals-recurrent-alterations-in-prkar1a-and-prkca-genes
#15
Jarish N Cohen, Nancy M Joseph, Jeffrey P North, Courtney Onodera, Artur Zembowicz, Philip E LeBoit
Pigmented epithelioid melanocytoma (PEM) is a rare cutaneous melanocytic tumor first described as epithelioid blue nevus in patients with the Carney Complex (CC). PEM was among the first established examples of an intermediate class of melanocytic tumors, including atypical Spitz tumors, with frequent metastasis to lymph nodes but only rare extranodal spread. Sporadic and CC-associated PEM are essentially histologically indistinguishable. A subset of PEM shows loss of cytoplasmic expression of the protein kinase A regulatory subunit alpha (PRKAR1A), a tumor suppressor gene mutated in 70% of families with CC...
October 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28648937/the-correlation-of-the-standard-5-probe-fish-assay-with-melanocytic-tumors-of-uncertain-malignant-potential
#16
Aaron Muhlbauer, Shabnam Momtahen, Martin C Mihm, James Wang, Cynthia M Magro
BACKGROUND: FISH has recently emerged as a technique to better assess the malignant potential of histologically ambiguous melanocytic lesions. However, the usefulness of FISH has not been conclusively established. The purpose of this study was to further explore the diagnostic value of FISH in distinguishing the borderline melanocytic tumor (BMT) from melanoma. METHOD: 73 cases with BMT were analyzed retrospectively from a dermatopathology database between 2010-2015...
June 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28449284/paediatric-melanoma
#17
REVIEW
C Stefanaki, L Chardalias, E Soura, A Katsarou, A Stratigos
Paediatric melanoma, although rare, is the most common skin cancer in children. Our current knowledge on paediatric melanoma incidence trends is expanding, as several studies have addressed this issue with conflicting results. Known risk factors for paediatric melanoma include family history of melanoma, a previous history of malignancy, large congenital nevi, numerous melanocytic nevi, sunburns, increased UV exposure and a sun-sensitive phenotype. In younger children, melanoma more often presents with atypical features, such as a changing, amelanotic or uniformly coloured, often bleeding lesion, not fulfilling in most cases the conventional ABCDE criteria...
October 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28362709/a-diagnostic-algorithm-combining-immunohistochemistry-and-molecular-cytogenetics-to-diagnose-challenging-melanocytic-tumors
#18
Sylvia Redon, Briac Guibourg, Matthieu Talagas, Pascale Marcorelles, Arnaud Uguen
Some melanocytic tumors are diagnostic challenges and require ancillary tools in helping the pathologists to determine their potential of malignancy. We intend to propose a diagnostic algorithm in helping to classify challenging melanocytic tumors combining histology, immunohistochemistry, and cytogenetics. We report on 24 spitzoid and/or misdiagnosed melanocytic tumors studied with a triple p16, Ki-67, and HMB45 immunohistochemistry score, fluorescent in situ hybridization (FISH) with melanoma-dedicated and non-melanoma-dedicated probes and comparative genomic hybridization on DNA microarray (CGH array)...
March 30, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28295655/characteristics-of-spitz-nevi-atypical-spitz-nevi-and-melanomas-in-patients-younger-than-20-years
#19
LETTER
E Soura, M Plaka, C Stefanaki, V Chasapi, E Christofidou, C Antoniou, A Stratigos
No abstract text is available yet for this article.
August 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27922770/on-the-nature-of-atypical-spitz-tumors
#20
LETTER
Carmelo Urso
No abstract text is available yet for this article.
December 2016: Archives of Pathology & Laboratory Medicine
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