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Spindle cell neoplasm with EML4‐ALK gene fusion presenting as an intraosseous vertebral mass
Author(s) -
Mantilla Jose G.,
Cheung Hoiwan,
Ha Alice S.,
Hoch Benjamin L.,
Liu Yajuan J.,
Ricciotti Robert W.
Publication year - 2021
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22917
Subject(s) - pathology , immunohistochemistry , cd34 , lesion , fusion gene , stroma , neoplasm , medicine , biology , gene , stem cell , microbiology and biotechnology , biochemistry
In this article, we describe a spindle cell neoplasm harboring an EML4‐ALK gene fusion presenting as an intraosseous vertebral mass with extension into the adjacent soft tissue in a 65‐year‐old man. Histologically, the lesion was characterized by the presence of monotonous, cytologically bland spindle cells with loose myxoedematous stroma and interspersed areas of amianthoid‐like collagen fiber deposition. Immunohistochemistry demonstrated strong diffuse staining for CD34 and S100, with absent immunoreactivity for SOX10. At 1 year of follow‐up after resection, there is no evidence of local recurrence or metastatic disease. This case adds to the clinical and pathologic spectrum of the recently described group of kinase fusion‐positive spindle cell neoplasms and represents the first reported intra‐osseous example. The presence of ALK rearrangement in this lesion represents a potential therapeutic target, if clinically indicated.