A novel case of cutaneous myxoid spindle cell neoplasm with FMR1-ALK gene fusion and CD34/S100 co-expression Journal Article
| Authors: | Kasago, I.; Aypar, U.; Sukhadia, P.; Vanderbilt, C.; Ladanyi, M.; Hurd, T.; Pulitzer, M. |
| Article Title: | A novel case of cutaneous myxoid spindle cell neoplasm with FMR1-ALK gene fusion and CD34/S100 co-expression |
| Abstract: | A novel class of superficial CD34+ and S100+ cutaneous spindle cell neoplasm harboring ALK rearrangements has recently been described. Morphologically, these neoplasms have been characterized by bland spindled cells organized in whorls and cords against myxoid stroma, eventuating in the designation “superficial ALK-rearranged myxoid spindle cell neoplasm.” Here, we report a 78-year-old male with a 3-mm pink papule on the chest, clinically concerning for cutaneous carcinoma. Biopsy of the specimen showed a biphasic tumor with hypercellular and hypocellular zones consisting of epithelioid cells and monomorphic, bland spindled cells. The spindled cells were arranged in perineurial-like concentric whorls and cords embedded in a myxo-collagenous stroma. Neoplastic cells were diffusely positive for CD34, S100, and D5F3-ALK, without SOX10 expression. Negative markers included GLUT1, EMA, factor XIIIa, desmin, actin, and SMA. ALK-rearrangement was identified on fluorescence in situ hybridization break-apart assay. A corresponding novel FMR1-ALK fusion was found by next-generation sequencing (NGS) based RNA sequencing. Identification of this new FMR1-ALK fusion signature adds to the spectrum of diagnostic genomic alterations in this newly described class of tumors. © 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. |
| Keywords: | aged; genetics; case report; in situ hybridization, fluorescence; skin neoplasms; protein tyrosine kinase; tumor marker; biopsy; skin tumor; fluorescence in situ hybridization; gene rearrangement; gene fusion; receptor protein-tyrosine kinases; cd34; fragile x mental retardation protein; s100; humans; human; male; kinase fusions; biomarkers, tumor; fmr1 protein, human; fmr1-alk fusion; spindle cell neoplasms |
| Journal Title: | Journal of Cutaneous Pathology |
| Volume: | 50 |
| Issue: | 6 |
| ISSN: | 0303-6987 |
| Publisher: | John Wiley & Sons |
| Date Published: | 2023-06-01 |
| Start Page: | 505 |
| End Page: | 510 |
| Language: | English |
| DOI: | 10.1111/cup.14354 |
| PUBMED: | 36325885 |
| PROVIDER: | scopus |
| PMCID: | PMC10154434 |
| DOI/URL: | |
| Notes: | Article -- MSK Cancer Center Support Grant (P30 CA008748) acknowledged in PubMed and PDF -- MSK corresponding author is Melissa Pulitzer -- Export Date: 31 May 2023 -- Source: Scopus |
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