Frazzetto Sara, Gullo Lara, Sapuppo Gabriele, Fazio Manlio, Lo Faro Cristina, Giunta Giuliana, Caravotta Ignazio, Mauro Elisa, Parisi Marina Silvia, Triolo Anna Maria, Parrinello Nunziatina Laura, Consoli Maria Letizia, També Loredana, Cambria Daniela, Marino Sara, Scuderi Grazia, Di Raimondo Francesco
Division of Hematology, Azienda Policlinico-San Marco, 95123 Catania, Italy.
Postgraduate School of Hematology, University of Catania, 95123 Catania, Italy.
Hematol Rep. 2024 Jun 12;16(2):367-374. doi: 10.3390/hematolrep16020037.
Acute promyelocytic leukemia is a rare form of acute myeloid leukemia in which immature promyelocytes abnormally proliferate in the bone marrow. In most cases, the disease is characterised by the translocation t(15;17) (q24;q21), which causes the formation of PML::RARA, an oncogenic fusion protein responsible for blocking myeloid differentiation and survival advantage. Here, we present a case of acute promyelocytic leukemia with two unusual features: basophilic differentiation and a three-way translocation involving chromosomes 12, 15 and 17. In the few cases reported, basophilic differentiation was associated with a poor prognosis. In contrast, our patient responded promptly to the standard treatment with all-trans-retinoic acid (ATRA) and arsenic trioxide (ATO) and obtained complete remission. To our knowledge, this is the first report of basophilic acute promyelocytic leukemia with the three-way translocation t(12;17;15) (p13; q24;q21).
急性早幼粒细胞白血病是急性髓系白血病的一种罕见形式，其中未成熟的早幼粒细胞在骨髓中异常增殖。在大多数情况下，该疾病的特征是15号和17号染色体发生t(15;17) (q24;q21)易位，这导致形成PML::RARA，一种致癌融合蛋白，负责阻断髓系分化并赋予生存优势。在此，我们报告一例具有两个不寻常特征的急性早幼粒细胞白血病病例：嗜碱性分化以及涉及12号、15号和17号染色体的三向易位。在已报道的少数病例中，嗜碱性分化与预后不良相关。相比之下，我们的患者对全反式维甲酸（ATRA）和三氧化二砷（ATO）的标准治疗迅速产生反应并获得完全缓解。据我们所知，这是首例关于具有t(12;17;15) (p13; q24;q21)三向易位的嗜碱性急性早幼粒细胞白血病的报告。
