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一名80岁女性大脚趾的浅表性透明细胞肉瘤(软组织黑色素瘤)伴罕见细胞遗传学易位

Superficial Clear Cell Sarcoma (Melanoma of Soft Parts) of the Large toe in an 80-Year-Old Female With a Rare Cytogenetic Translocation.

作者信息

Zambrano Regina, Moesch John, Davis Emily R, Heaphy Michael R, Miller Richard

机构信息

Dermatology, Nova Southeastern University-Kiran C Patel College of Osteopathic Medicine, Fort Lauderdale, USA.

Dermatology, Largo Medical Center, Largo, USA.

出版信息

Cureus. 2020 Nov 26;12(11):e11719. doi: 10.7759/cureus.11719.

Abstract

We present a case of clear cell sarcoma (CCS) on the left large toe of an 80-year-old female. CCS, also known as "melanoma of soft parts," is a rare soft tissue neoplasm that exhibits melanocytic differentiation. Most cases occur on the distal extremities of young female adults. CCS shares histopathologic and immunohistochemical features with malignant melanoma that cause diagnostic difficulties distinguishing between these entities; therefore, cytogenetic studies of specific translocations are paramount in obtaining the correct diagnosis. The majority of CCS cases reveal a t(12;22)(q13;q12) EWSR1/ATF1 translocation, while a rare subset of CCS demonstrate a t(2;22) (q32:q12) EWS/CREB1 translocation. Our patient presented with a 50-year history of a nodule on the dorsum of her left large toe, with increasing size and tenderness over the past nine months. Histopathology and immunoperoxidase staining indicated CCS as a differential diagnosis. Cytogenetic analysis revealed a translocation in t(2;22) (q32;q12) resulting in the EWSR1/CREB1 gene, confirming a diagnosis of CCS. The translocation, histologic location, and long-standing clinical course exhibited in this case are exceptionally rare, and we hope to inform dermatologists of an uncommon presentation of CCS in an unexpected age group.

摘要

我们报告一例80岁女性左大脚趾的透明细胞肉瘤(CCS)病例。CCS,也被称为“软组织黑色素瘤”,是一种罕见的软组织肿瘤,具有黑色素细胞分化特征。大多数病例发生在年轻成年女性的远端肢体。CCS与恶性黑色素瘤具有共同的组织病理学和免疫组化特征,这给区分这两种实体带来了诊断困难;因此,特定易位的细胞遗传学研究对于获得正确诊断至关重要。大多数CCS病例显示t(12;22)(q13;q12) EWSR1/ATF1易位,而一小部分罕见的CCS病例表现为t(2;22)(q32:q12) EWS/CREB1易位。我们的患者左大脚趾背侧有一个结节,已有50年病史,在过去九个月中大小增大且有压痛。组织病理学和免疫过氧化物酶染色提示CCS为鉴别诊断。细胞遗传学分析显示t(2;22)(q32;q12)易位,产生EWSR1/CREB1基因,确诊为CCS。该病例中出现的易位、组织学位置和长期临床病程极为罕见,我们希望告知皮肤科医生CCS在一个意想不到的年龄组中的不常见表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5637/7772106/70f1491924d7/cureus-0012-00000011719-i01.jpg

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