Fei Fei, Liedtke Michaela, Silva Oscar
Department of Pathology, Stanford University School of Medicine, Stanford, CA, United States.
Division of Hematology, Stanford University School of Medicine, Stanford, CA, United States.
Front Oncol. 2022 Jul 6;12:903113. doi: 10.3389/fonc.2022.903113. eCollection 2022.
Mature plasmacytoid dendritic cell proliferations (MPDCPs) are clonal, non-malignant pDC proliferations that have been reported to occur in association with myeloid neoplasms such as CMML, AML (pDC-AML), and, rarely, MDS or MPNs. Here we report the first case of a MPDCP associated with T-lymphoblastic leukemia (T-ALL), a lymphoid neoplasm. The MPDCP in this case involved ~50% of the bone marrow, was found in nodular aggregates, expressed CD123, CD4, and CD303, and lacked CD56 and TCL1 expression. In addition, the MPDCP lacked CD34 and TdT but showed aberrant expression of CD7, CD5, CD10, and CD13, markers expressed by the abnormal T-lymphoblastic cells. Mutational analysis demonstrated mutations in JAK3, NOTCH1, NRAS, KRAS, DNMT3A, and SH2B3 but no mutations in TET2, ASLX1 or ZRSR2. Analysis of the pDC frequency in a separate cohort of T-ALL and control patients demonstrated that bone marrow pDCs are often decreased in patients with T-ALL compared to controls. This is the first report of a MPDCP associated with a lymphoid neoplasm and provides further support that MPDCP can arise from a multipotent hematopoietic progenitor with lymphoid and dendritic cell potential.
成熟浆细胞样树突状细胞增殖（MPDCPs）是克隆性、非恶性的浆细胞样树突状细胞增殖，据报道其发生与髓系肿瘤相关，如慢性粒-单核细胞白血病（CMML）、急性髓系白血病（pDC-AML），以及罕见的骨髓增生异常综合征（MDS）或骨髓增殖性肿瘤（MPN）。在此，我们报告首例与T淋巴细胞母细胞白血病（T-ALL，一种淋巴系肿瘤）相关的MPDCP。该病例中的MPDCP累及约50%的骨髓，呈结节状聚集，表达CD123、CD4和CD303，且缺乏CD56和TCL1表达。此外，MPDCP缺乏CD34和末端脱氧核苷酸转移酶（TdT），但显示CD7、CD5、CD10和CD13异常表达，这些是异常T淋巴细胞母细胞表达的标志物。突变分析显示JAK3、NOTCH1、NRAS、KRAS、DNMT3A和SH2B3存在突变，但TET2、ASLX1或ZRSR2无突变。对另一组T-ALL患者和对照患者的浆细胞样树突状细胞频率分析表明，与对照组相比，T-ALL患者的骨髓浆细胞样树突状细胞通常减少。这是首例与淋巴系肿瘤相关的MPDCP报告，进一步支持了MPDCP可源自具有淋巴系和树突状细胞潜能的多能造血祖细胞这一观点。
