Western Diagnostic Pathology, Perth, Australia.
School of Medicine, Curtin University, Bentley, Australia.
Am J Dermatopathol. 2021 Mar 1;43(3):217-220. doi: 10.1097/DAD.0000000000001796.
Mesenchymal neoplasms with oncogenic kinase activity due to genomic alterations in receptor tyrosine kinase genes are a morphologically heterogeneous group with a variable biologic potential. A subset of these neoplasms are characterized by immunophenotypic property of dual S100 protein/CD34 expression, histopathological resemblance to lipofibromatosis or peripheral nerve sheath tumors, and often alterations in neurotrophic tropomyosin-related kinase genes. In this article, we present a case of an S100 protein/CD34-positive spindle cell neoplasm harboring a rare BRAF gene rearrangement (KIAA1549-BRAF fusion) and discuss the clinical, histopathological, and molecular variations associated with such neoplasms.
由于受体酪氨酸激酶基因的基因组改变而具有致癌激酶活性的间叶性肿瘤是一组形态学上异质性的肿瘤，具有不同的生物学潜能。这些肿瘤的一部分具有双 S100 蛋白/CD34 表达的免疫表型特征、类似于脂肪纤维瘤病或周围神经鞘肿瘤的组织病理学特征，并且通常存在神经营养性原肌球蛋白相关激酶基因的改变。本文报道了一例 S100 蛋白/CD34 阳性梭形细胞肿瘤，其含有罕见的 BRAF 基因重排（KIAA1549-BRAF 融合），并讨论了与这些肿瘤相关的临床、组织病理学和分子变化。
