Pathology Department, Saint-Louis Hospital, Paris, France.
Solid Tumor Genomics Department, Saint-Louis Hospital, Paris, France.
J Cutan Pathol. 2023 Oct;50(10):897-902. doi: 10.1111/cup.14408. Epub 2023 Mar 8.
Microsecretory adenocarcinoma (MSA) is a newly described salivary gland tumor harboring a characteristic balanced chromosomal translocation resulting in MEF2C::SS18 gene fusion. Six primary cutaneous MSA cases have been recently described. We report three additional cases confirming the relevance of this recently identified entity of primary cutaneous adnexal tumor. Three patients aged 53-, 64- and 78-year-old were retrospectively diagnosed with MSA of the skin (MSAS) as consultation cases of the CARADERM (CAncers RAres DERMatologiques) national network. The clinical presentation was an indolent nodule on the upper extremities. There was no history of salivary gland tumor. Histopathologically, the tumors presented as dermal nodular proliferation with slightly infiltrative borders, composed of cribriform and microcystic structures with abundant myxoid intraluminal secretion embedded in a fibromyxoid stroma. They diffusely expressed cytokeratin 8 and SOX10, focally p63 and heterogeneously smooth muscle actin. All tumors harbored the MEF2C::SS18 gene fusion. A complete surgical excision was performed. No local recurrence or distant metastases were observed so far (follow-up: 17, 38, and 45 months). MSAS is the cutaneous homologue of MSA of the salivary gland, a low-grade adnexal neoplasm whose prognosis seems to be excellent once the complete removal of the tumor is assured.
微分泌性腺癌(MSA)是一种新描述的唾液腺肿瘤,具有特征性的平衡染色体易位,导致 MEF2C::SS18 基因融合。最近已经描述了六个原发性皮肤 MSA 病例。我们报告了另外三个病例,证实了这种新确定的原发性皮肤附属器肿瘤实体的相关性。三名患者年龄分别为 53 岁、64 岁和 78 岁,作为 CARADERM(CAncers RAres DERMatologiques)国家网络的会诊病例,被回顾性诊断为皮肤 MSA(MSAS)。临床表现为上肢的惰性结节。无唾液腺肿瘤病史。组织病理学上,肿瘤表现为真皮结节状增生,边界略有浸润性,由筛状和微囊状结构组成,腔内有丰富的黏液分泌,嵌入纤维黏液样基质中。它们广泛表达细胞角蛋白 8 和 SOX10,局灶性表达 p63 和异质性平滑肌肌动蛋白。所有肿瘤均携带 MEF2C::SS18 基因融合。均行完全手术切除。到目前为止,未观察到局部复发或远处转移(随访:17、38 和 45 个月)。MSAS 是唾液腺 MSA 的皮肤同源物,是一种低级别附属器肿瘤,一旦确保完全切除肿瘤,其预后似乎很好。