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We report a case of a 35-year old male patient with a tumor located in the deep dermis on his forearm. The lesion was completely excised but recurred 4 years later. The patient showed no signs of neurofibromatosis type 1. The morphology and immunophenotype of the tumor corresponded to the recently characterized group of soft tissue spindle cell lesions defined by a relatively uniform cytomorphology, patternless architecture, conspicuous stromal and perivascular hyalinization, S100 and CD34 co-expression and recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes. Using a 592-gene panel and massively parallel next-generation sequencing platform, we initially detected only NF1 gene mutation in our case. However, further molecular testing with Archer fusion assay revealed a novel NCOA4-RET gene fusion, adding it to the list of multiple kinase fusions originally reported in these tumors. Although break-apart FISH showed false negative result due to the presence of intrachromosomal rearrangement, RT-PCR confirmed the fusion transcript. Knowing the exact fusion is of great clinical importance especially for patients within the aggressive subset of these neoplasms that could be treated with selective kinase inhibitors. The presented case underscores the benefits of massively parallel sequencing since the types and number of gene fusions these tumors can potentially harbor render single-gene assays such as FISH impractical, and in this particular case, also insensitive. This article is protected by copyright. All rights reserved.
This article was published in the following journal.
Name: Genes, chromosomes & cancer
Spindle cell tumours with S100 and CD34 co-expression (without SOX-10 positivity) have been recently collated into an entity showing recurrent fusions involving RAF1, BRAF and NTRK1/2 genes . These t...
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A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. The tumors range from benign to frankly malignant lesions. The tumor occurs most frequently in an end of a long tubular bone in young adults. (From Dorland, 27th ed; Stedman, 25th ed)
An S100 calcium binding protein that contains two EF HAND MOTIFS and plays a role as a calcium sensor and modulator for many cellular processes such as CELL CYCLE progression; CELL MOTILITY and reorganization of the ACTIN CYTOSKELETON. Its expression is induced by growth factors and it is overexpressed in patients with ACUTE MYELOID LEUKEMIA.
The sites in a dividing cell where the minus ends of the spindle MICROTUBULES assemble and where the separated sister CHROMATIDS converge.
A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)
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