Helm Matthew, Chang Allison, Fanburg-Smith Julie C, Zaenglein Andrea L, Helm Klaus
Department of Dermatology, Penn State Hershey Medical Center, Hershey, Pennsylvania, USA.
Penn State College of Medicine, Hershey, Pennsylvania, USA.
J Cutan Pathol. 2023 May;50(5):405-409. doi: 10.1111/cup.14420. Epub 2023 Mar 12.
Cutaneous VCL::ALK fusion spindle (ovoid) cell tumor is unique. Recently emerged RAS::MAP tyrosine kinase fusion sarcomas more commonly involve subcutis, skeletal muscle and even bone. We share our experience with a novel cutaneous VCL::ALK spindle cell tumor. An 11-year-old male presented with a back pedunculated pink-red papule thought to be a pyogenic granuloma. Biopsy histopathology revealed an epithelial collarette with pedunculated tumor extending to deep dermis/subcutis interface. The combination of spindled and epithelioid cells, an ovoid myopericytoid appearance within myxoid to collagenous stroma, low to moderate MIB1 and focal S100 protein without SOX10 immunostaining, were suggestive of a novel RAS::MAPK tyrosine kinase fusion sarcoma that is well described. ALK immunostain being positive, a next-generation sequencing comprehensive fusion panel was performed to reveal a VCL::ALK fusion. While epithelioid fibrous histiocytoma shares this fusion and similar dermal location and collarette pedunculation, this and other entities were excluded by older patient age, deeper dermal involvement, ovoid-to-spindled morphology, central pericytoid vasculature, myxoid stroma, moderate cellularity with low to moderate MIB1 expression, superficial ulceration, and focal S100 protein expression. Complete excision was performed with favorable follow-up to date. This novel VCL::ALK fusion spindle (ovoid) cell tumor of the dermis is best considered as part of the recently emerged RAS::MAP tyrosine kinase fusion sarcomas.
皮肤VCL::ALK融合性梭形(卵圆形)细胞瘤很独特。最近出现的RAS::MAP酪氨酸激酶融合性肉瘤更常累及皮下组织、骨骼肌甚至骨骼。我们分享了一例新型皮肤VCL::ALK梭形细胞瘤的经验。一名11岁男性患者,背部出现一个带蒂的粉红丘疹,最初被认为是化脓性肉芽肿。活检组织病理学显示有上皮衣领样结构,带蒂肿瘤延伸至真皮深层/皮下组织界面。梭形细胞和上皮样细胞的组合、在黏液样至胶原性基质内呈卵圆形的肌周细胞样外观、低至中度的MIB1以及局灶性S100蛋白表达但SOX10免疫染色阴性,提示为一种已被充分描述的新型RAS::MAPK酪氨酸激酶融合性肉瘤。ALK免疫染色呈阳性,随后进行了二代测序综合融合检测,结果显示存在VCL::ALK融合。虽然上皮样纤维组织细胞瘤也有这种融合以及类似的真皮部位和衣领样蒂部,但根据患者年龄较大、真皮深层受累、卵圆形至梭形形态、中央周细胞样血管、黏液样基质、细胞密度中等且MIB1表达低至中度、浅表溃疡以及局灶性S100蛋白表达等情况,排除了该诊断及其他病变。已进行完整切除,目前随访情况良好。这种新型真皮VCL::ALK融合性梭形(卵圆形)细胞瘤最好被视为最近出现的RAS::MAP酪氨酸激酶融合性肉瘤的一部分。