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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Saraggi, D; Salmaso, R; Zamuner, C; Munari, G; Lanza, C; Alaibac, MS; Bassetto, F; Rugge, M; Montesco, MC; Cerroni, L; Fassan, M.
Prevalence of ALK gene alterations among the spectrum of plexiform spitzoid lesions.
J Am Acad Dermatol. 2018; 79(4):728-735
Doi: 10.1016/j.jaad.2018.06.018
Web of Science
PubMed
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- Co-authors Med Uni Graz
- Cerroni Lorenzo
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- Abstract:
- ALK receptor tyrosine kinase gene (ALK) rearrangements have been described in spitzoid lesions with a plexiform growth pattern. To investigate the prevalence of ALK alterations in a large series of spitzoid lesions. ALK immunohistochemical and fluorescence in situ hybridization analyses of 78 spitzoid plexiform lesions including 41 Spitz nevi, 29 atypical Spitz tumors (ASTs), and 8 spitzoid melanomas. ALK immunohistochemical staining was observed in 14.6% of Spitz nevi (6 of 41) and 13.8% of ASTs (4 of 29); the spitzoid melanomas were ALK negative. Fluorescence in situ hybridization confirmed ALK translocation in 9 cases and amplification in 1 case. In 2 of the translocated cases it was possible to determine the fusion partner gene (ie, tropomyosin 3 gene [TPM3] or dynactin 1 gene [DCTN1]). Of the 4 cases of AST examined, 2 carried the B-Raf proto-oncogene, serine/threonine kinase gene (BRAF) V600E mutation. The 10 patients had a mean age of 18.7 years (range, 1-39) and a female predominance (female-to-male ratio, 7:3). Seven lesions arose on the extremities; the 2 lesions occurring in infants were located on the face. The lesions' mean diameter was 6.2 mm (range, 3-13), and their mean Breslow thickness was 1.83 mm (range, 0.6-3.6). The results of sentinel node biopsy were negative in 2 ASTs. BRAF status was tested in only 4 of 10 samples because of the limited amount of material. ALK alterations characterize a significant subset of spitzoid lesions. Copyright © 2018 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Anaplastic Lymphoma Kinase - genetics
- Child -
- Child, Preschool -
- Cohort Studies -
- Female -
- Genetic Predisposition to Disease - epidemiology
- Genetic Variation -
- Humans -
- Immunohistochemistry -
- In Situ Hybridization, Fluorescence -
- Male -
- Mutation -
- Neoplasm Invasiveness - pathology
- Neoplasm Staging -
- Nevus, Epithelioid and Spindle Cell - genetics
- Nevus, Epithelioid and Spindle Cell - pathology
- Nevus, Epithelioid and Spindle Cell - surgery
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- Real-Time Polymerase Chain Reaction - methods
- Retrospective Studies -
- Sentinel Lymph Node Biopsy -
- Skin Neoplasms - genetics
- Skin Neoplasms - pathology
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- Find related publications in this database (Keywords)
- ALK
- atypical Spitz tumor
- plexiform melanocytic lesions