Atypical presentation of γ/δ mycosis fungoides with an unusual phenotype and SOCS1 mutation

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-07-30 DOI:10.1515/biol-2022-0925

Pia Rude Nielsen, Lone Schejbel, Pär Lars Josefsson, Lone Skov, Signe Ledou Nielsen

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Abstract

Mycosis fungoides is the most frequent subtype of primary cutaneous T-cell lymphomas. The diagnosis is based on a thorough clinic-pathologic correlation, which can, especially in early-stage disease, be challenging due to similarities with several benign skin disorders such as psoriasis and atopic dermatitis. Here, we present a case of an 81-year-old man with a 20-year-long medical history of skin problems treated as psoriasis with limited effect. Since December 2021, the patient experienced worsening of his skin symptoms with rapidly growing tumors and widespread patches and plaques. Positron emission tomography/computed tomography evaluation revealed markedly metabolic activity related to the skin tumors and increased FDG uptake in several retroperitoneal lymph nodes. Histological assessment of skin biopsies demonstrated a highly proliferative T-cell lymphoma with a γ/δ+ and CD8+ cytotoxic phenotype. The morphology of the tumor cells appeared blastic with an abnormal immunephenotype CD3+, CD2−, CD5dim, CD4−, CD8+, CD56−, and CD30−. Next-generation sequencing detected a likely pathogenic SOCS1 mutation with an allele frequency of 72% as well as a STAT3 variant of unknown significance. This case highlights the diagnostic complexity of an indolent skin lymphoma evolving into an aggressive cytotoxic lymphoma.

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γ/δ真菌病的非典型表现与异常表型和 SOCS1 基因突变

真菌病是原发性皮肤T细胞淋巴瘤中最常见的亚型。诊断基于全面的临床-病理相关性，由于与银屑病和特应性皮炎等几种良性皮肤病的相似性，诊断尤其是早期疾病的诊断可能具有挑战性。在此，我们介绍了一例 81 岁男性患者的病例，他有长达 20 年的皮肤问题病史，曾被当作银屑病治疗，但效果有限。自 2021 年 12 月起，患者的皮肤症状恶化，肿瘤迅速生长，并出现大面积斑块和斑块。正电子发射断层扫描/计算机断层扫描评估显示，皮肤肿瘤有明显的代谢活动，几个腹膜后淋巴结的 FDG 摄取增加。皮肤活检组织学评估显示，这是一种高度增生的T细胞淋巴瘤，具有γ/δ+和CD8+细胞毒性表型。肿瘤细胞的形态呈扁平状，免疫表型为CD3+、CD2-、CD5dim、CD4-、CD8+、CD56-和CD30-。下一代测序检测出一个等位基因频率为 72% 的可能致病的 SOCS1 基因突变，以及一个意义不明的 STAT3 基因变异。该病例凸显了由不太活跃的皮肤淋巴瘤演变为侵袭性细胞毒性淋巴瘤的诊断复杂性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.