一例罕见的真皮肌成纤维细胞瘤,强调免疫组织化学Rb表达缺失的诊断价值。

IF 1.1 4区 医学 Q3 DERMATOLOGY
Ayana Crawl-Bey, Ryanne A Brown, Johanna B Moore
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引用次数: 0

摘要

一位74岁的女性,在她的左胸腔下方出现了一个逐渐增大和间歇性压痛的色素沉着的病变。体格检查显示一个坚固的、毛细血管扩张的线状斑块,临床怀疑为增生性疤痕。行刮刀活检。组织学切片显示皮肤增生的肥大梭形细胞,无细胞异型性,组织成短束状,其间散布着透明的胶原束。免疫组化染色显示病变细胞中CD34、desmin和平滑肌肌动蛋白的表达。SOX10、S100、Melan-A阴性。视网膜母细胞瘤1 (Rb)染色显示纺锤形细胞核表达缺失。这些发现支持了肌成纤维细胞瘤的诊断,这种疾病很少发生在皮肤上。肌成纤维细胞瘤是一种罕见的良性间充质肿瘤,由成纤维细胞和肌成纤维细胞组成,RB1所在的13q14区反复出现单等位基因缺失,导致Rb表达缺失。虽然鉴别诊断很广泛,但本病例强调Rb免疫组织化学在皮肤肌成纤维细胞瘤诊断中的应用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Rare Case of Dermal Myofibroblastoma Emphasizing the Diagnostic Utility of Immunohistochemical Loss of Rb Expression.

A 74-year-old female presented with a progressively enlarging and intermittently tender hyperpigmented lesion beneath her left rib cage. Physical examination revealed a firm, telangiectatic linear plaque clinically suspected to represent a hypertrophic scar. A shave biopsy was performed. Histologic sections demonstrated a dermal proliferation of plump spindled cells without cytologic atypia, organized in short fascicles interspersed with hyalinized collagen bundles. Immunohistochemical stains revealed CD34, desmin, and smooth muscle actin expression in the lesional cells. SOX10, S100, and Melan-A were negative. Retinoblastoma 1 (Rb) staining demonstrated loss of nuclear expression in the spindle-shaped cells. The findings support a diagnosis of myofibroblastoma, which rarely occurs in the skin. Myofibroblastoma is an uncommon benign mesenchymal neoplasm composed of fibroblasts and myofibroblasts with recurrent monoallelic loss of the 13q14 region, where RB1 resides, with resultant loss of Rb expression. Although the differential diagnosis was vast, this case highlights the utility of Rb immunohistochemistry in the diagnosis of cutaneous myofibroblastoma.

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来源期刊
CiteScore
3.20
自引率
5.90%
发文量
174
审稿时长
3-8 weeks
期刊介绍: Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.
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