Soft tissue neoplasms displaying CD34 and S100 positivity with immunohistochemistry are rare with a wide morphological range and frequent neurotrophic tyrosine receptor kinase (NTRK) alterations. Recent reports describe fusions in other kinases besides NTRK in these tumors. In the present article, we report a case of a young male suffering from a soft tissue neoplasm in the lumbar region. At microscopic examination, it was a CD34 and S100-positive soft tissue tumor showing a multilobulated growth pattern composed of cells with pale cytoplasm and abundant normal smooth muscle stroma. The genetic profile showed two alterations affecting EGFR gene represented by a novel MYH9::EGFR fusion transcript and a p.K714N mutation.
A spindle cell neoplasm with MYH9::EGFR fusion and co‐expression of S100 and CD34, further expanding the family of kinase fusion positive spindle cell neoplasms / Caprini, Elisabetta; Verkhovskaia, Sofia; Casini, Beatrice; Testi, Adele; Dagrada, Gian Paolo; Palese, Enzo; Rahimi, Siavash. - In: GENES, CHROMOSOMES & CANCER. - ISSN 1045-2257. - 62:8(2023), pp. 483-488. [10.1002/gcc.23134]
A spindle cell neoplasm with MYH9::EGFR fusion and co‐expression of S100 and CD34, further expanding the family of kinase fusion positive spindle cell neoplasms
Verkhovskaia, Sofia;Casini, Beatrice;Palese, Enzo;
2023
Abstract
Soft tissue neoplasms displaying CD34 and S100 positivity with immunohistochemistry are rare with a wide morphological range and frequent neurotrophic tyrosine receptor kinase (NTRK) alterations. Recent reports describe fusions in other kinases besides NTRK in these tumors. In the present article, we report a case of a young male suffering from a soft tissue neoplasm in the lumbar region. At microscopic examination, it was a CD34 and S100-positive soft tissue tumor showing a multilobulated growth pattern composed of cells with pale cytoplasm and abundant normal smooth muscle stroma. The genetic profile showed two alterations affecting EGFR gene represented by a novel MYH9::EGFR fusion transcript and a p.K714N mutation.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
