Boddu Prajwal C, Wang Sa A, Pemmaraju Naveen, Tang Zhenya, Hu Shimin, Li Shaoying, Xu Jie, Medeiros L Jeffrey, Tang Guilin
Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Leuk Res. 2018 Mar;66:73-78. doi: 10.1016/j.leukres.2018.01.013. Epub 2018 Feb 3.
8q24/MYC rearrangements resulting in MYC overexpression occur most frequently in lymphoid neoplasms. MYC rearrangements rarely have been described in blastic plasmacytoid dendritic cell neoplasm (BPDCN). Over an 8-year period in our hospital, 5 of 41 (12%) patients with BPDCN were shown 8q24/MYC rearrangements, including 2 with t(6;8)(p21;q24), 1 with t(8;14)(q24;q32), 1 with t(X;8)(q24;q24), and 1 with t(3;8)(p25;q24). 8q24/MYC rearrangement was present in the stemline in 4 patients and in the sideline in one; the latter was a patient with primary myelofibrosis who then developed BPDCN. MYC overexpression by immunohistochemistry was variable, but largely correlated with the percentage of blasts. Four patients were treated with acute lymphoblastic leukemia-type chemotherapy regimens and 3 had a good response; 1 patient was treated with acute myeloid leukemia-type regimens and was refractory to therapy. By the end of the follow-up, 3 patients died and 2 were alive in complete remission. We conclude that 8q24/MYC rearrangements occur in 10-15% of BPDCN, often partnered with non-immunoglobulin chromosomal loci, and may play a role in BPDCN pathogenesis. In this small patient sample, patients with BPDCN and MYC rearrangement often responded to therapy with acute lymphoblastic leukemia-type chemotherapy regimens.
导致MYC过表达的8q24/MYC重排在淋巴肿瘤中最为常见。MYC重排在母细胞性浆细胞样树突状细胞肿瘤（BPDCN）中鲜有报道。在我院8年期间，41例BPDCN患者中有5例（12%）存在8q24/MYC重排，其中2例为t(6;8)(p21;q24)，1例为t(8;14)(q24;q32)，1例为t(X;8)(q24;q24)，1例为t(3;8)(p25;q24)。4例患者的主干系中存在8q24/MYC重排，1例患者的旁系中存在；后者是一名原发性骨髓纤维化患者，随后发展为BPDCN。免疫组化检测的MYC过表达情况各异，但在很大程度上与母细胞百分比相关。4例患者接受了急性淋巴细胞白血病类型的化疗方案治疗，3例反应良好；1例患者接受了急性髓系白血病类型的方案治疗，但对治疗无效。随访结束时，3例患者死亡，2例患者处于完全缓解状态存活。我们得出结论，8q24/MYC重排在10% - 15%的BPDCN中出现，常与非免疫球蛋白染色体位点相关，可能在BPDCN发病机制中起作用。在这个小患者样本中，患有BPDCN且有MYC重排的患者通常对急性淋巴细胞白血病类型的化疗方案治疗有反应。
