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母细胞性浆细胞样树突状细胞肿瘤:病例报告

英文原题:Blastic Plasmacytoid Dendritic Cell Neoplasm: A Case Report.

PubMed 2025/08/15(内容时间) Iran J Pathol

研究概要

本病例报告详细介绍了 1 例 64 岁女性的病史,她因皮肤肿块就诊,该肿块在 6 个月内缓慢生长。

中文摘要

母细胞性浆细胞样树突状细胞肿瘤是一种罕见疾病,根据世界卫生组织2022年分类,被归为急性髓系白血病相关前体肿瘤。该病过去被认为起源于NK 细胞、T细胞或单核细胞,目前则认为源自浆细胞样树突状细胞。其病因尚未充分了解,但常与RB1、CDKN1B、CDKN2A和TP53等肿瘤抑制基因缺失有关。该病侵袭性强,通常先出现皮肤病变,随后可累及骨髓并发生白血病性播散。流式细胞术/免疫组化可检测到CD56、CD4和CD123表达增强。鉴别诊断包括髓系肉瘤/急性髓系白血病、T细胞淋巴母细胞白血病/淋巴瘤、NK细胞淋巴瘤/白血病,以及某些成熟T细胞淋巴瘤/白血病。初始化疗可能使患者应答,但复发常见。造血干细胞移植可能改善生存。本病例报告介绍一名64岁女性的病史:她因皮肤肿块就诊,该肿块在6个月内缓慢增大,触诊质硬。包括骨髓涂片和活检在内的广泛检查发现大量异常或母细胞样细胞。进一步的骨髓流式细胞分析证实存在具有CD4阳性和CD56阳性特征的浆细胞样树突状细胞肿瘤前体细胞。

展开英文摘要原文

A rare condition, blastic plasmacytoid dendritic cell neoplasm, is classified as acute myeloid leukemia-related precursor neoplasms according to the World Health Organization's 2022 classification. Previously thought to originate from natural killer cells, T cells, or monocytes, it is now believed to arise from plasmacytoid dendritic cells. The cause of this condition is not well understood, but it is often associated with the deletion of tumor suppressor genes such as RB1, CDKN1B, CDKN2A, and TP53. The disease is aggressive and typically presents with initial cutaneous lesions that can progress to bone marrow involvement and leukemic dissemination. Flow cytometry/ immunohistochemistry can detect enhanced CD56, CD4, and CD123 expression. The differential diagnoses include myeloid sarcoma/acute myeloid leukemia, T-cell lymphoblastic leukemia/lymphoma, NK-cell lymphoma/leukemia, and certain mature T-cell lymphomas/leukemias. Although initial chemotherapy may elicit a patient response, relapse is common. Survival may be improved by stem cell transplantation. This case report details the medical history of a 64-year-old woman who presented with a skin mass that exhibited slow growth over 6 months. The mass was firm on palpation. Extensive testing, including a bone marrow (BM) smear and biopsy, revealed numerous abnormal or blastic cells. Furthermore, flow cytometric analysis of the BM confirmed the presence of plasmacytoid dendritic cell-neoplastic precursor cells exhibiting CD4+ and CD56+ characteristics.

论文信息

作者
Nayeri F、Nematolahi P、Mohamadi B
第一作者单位
Department of Pathology, Resident of Pathology, Isfahan University of Medical Sciences, Isfahan, Iran.Iran
通讯作者单位
Department of Pathology, Assistant Professor, Isfahan University of Medical Sciences, Isfahan, Iran.Iran
文献类型
病例报告
期刊
Iranian journal of pathology2025 Fall
原文标识
PubMed 41099044 · DOI 10.30699/ijp.2025.2025501.3279