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

Author:

Caprini Elisabetta1,Verkhovskaia Sofia2,Casini Beatrice3,Testi Adele4,Dagrada Gian Paolo4,Palese Enzo5,Rahimi Siavash1

Affiliation:

1. Anatomic Pathology Department IDI‐IRCCS Rome Italy

2. Oncology Department IDI‐IRCCS Rome Italy

3. Anatomic Pathology Department IRCCS Regina Elena National Cancer Institute Rome Italy

4. Fondazione IRCCS Istituto Nazionale Tumori Milan Italy

5. Surgery Department IDI‐IRCCS Rome Italy

Abstract

AbstractSoft 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.

Funder

Ministero della Salute

Publisher

Wiley

Subject

Cancer Research,Genetics

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