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诊断挑战:恶性黑色素瘤与软组织透明细胞肉瘤的鉴别——病例报告及文献复习

Navigating diagnostic challenges-distinguishing malignant melanoma and clear cell sarcoma of soft tissues: a case report and review of the literature.

机构信息

Pathology Department, Mohammed VI University Hospital Center, Marrakesh, Morocco.

Faculty of Medicine and Pharmacy, Ibn Zohr University, Guelmim, Morocco.

出版信息

J Med Case Rep. 2024 May 17;18(1):249. doi: 10.1186/s13256-024-04542-y.

Abstract

BACKGROUND

Within the spectrum of melanocytic-differentiated tumors, the challenge faced by pathologists is discerning accurate diagnoses, with clear cell sarcoma of soft tissues standing out as a rare and aggressive neoplasm originating from the neural crest. Accounting for 1% of all soft tissue sarcomas, clear cell sarcoma of soft tissues poses diagnostic complexities, often misidentified owing to its phenotypic resemblance to malignant melanoma. This chapter delves into the intricacies of clear cell sarcoma of soft tissues, its epidemiology, characteristic manifestations, and the imperative need for a comprehensive diagnostic approach involving immunohistochemical and molecular analyses.

CASE PRESENTATION

A compelling case unfolds as a 25-year-old male from Morocco, initially misdiagnosed with malignant melanoma, experiences tumor recurrence on the second toe. With no history of trauma or familial neoplasia, the patient's clinical journey is explored, emphasizing the importance of detailed clinical examinations and radiological assessments. The chapter elucidates the histopathological findings, immunohistochemical spectrum, and the correlation between clinical parameters and diagnostic inference, ultimately leading to metatarsal amputation. This clinical vignette highlights the multidimensional diagnostic process in soft tissue neoplasms, emphasizing the synergistic role of clinical, radiological, and histopathological insights.

CONCLUSION

The diagnostic challenges inherent in melanocytic-differentiated tumors, exemplified by the rarity of soft tissue clear cell sarcoma, underscore the essential role of an integrated diagnostic approach. This concluding chapter emphasizes the perpetual collaboration required across pathology, clinical medicine, and radiology for nuanced diagnostic precision and tailored therapeutic strategies. The rarity of these soft tissue malignancies necessitates ongoing interdisciplinary engagement, ensuring the optimization of prognosis and treatment modalities through a comprehensive understanding of the diagnostic intricacies presented by clear cell sarcoma of soft tissues.

摘要

背景

在黑素细胞分化肿瘤谱中,病理学家面临的挑战是准确诊断,其中软组织透明细胞肉瘤是一种罕见且具有侵袭性的神经嵴起源的肿瘤。软组织透明细胞肉瘤占所有软组织肉瘤的 1%,由于其与恶性黑色素瘤的表型相似,因此诊断复杂,经常被误诊。本章深入探讨了软组织透明细胞肉瘤的复杂性、其流行病学、特征表现以及综合诊断方法(包括免疫组织化学和分子分析)的必要性。

病例介绍

一名 25 岁的摩洛哥男性患者,最初被误诊为恶性黑色素瘤,在第二个脚趾上复发肿瘤。该患者无外伤史或家族性肿瘤病史,详细的临床检查和影像学评估强调了这一案例的重要性。本章阐述了组织病理学发现、免疫组织化学谱以及临床参数与诊断推断之间的相关性,最终导致跖骨截肢。这一临床病例强调了软组织肿瘤多维诊断过程的重要性,突出了临床、放射学和组织病理学见解的协同作用。

结论

黑素细胞分化肿瘤所固有的诊断挑战,如软组织透明细胞肉瘤的罕见性,突显了综合诊断方法的重要性。本章强调了病理学、临床医学和放射学之间持续合作的必要性,以实现微妙的诊断精度和量身定制的治疗策略。这些软组织恶性肿瘤的罕见性需要进行持续的跨学科参与,通过全面了解软组织透明细胞肉瘤的诊断复杂性,优化预后和治疗方式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b699/11100201/a9687ddd29b7/13256_2024_4542_Fig1_HTML.jpg

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