Jacobs Jeremy W, Ramaswamy Rahul, States Vanessa, Reppucci Jennifer, Oluwole Olalekan O, Mason Emily F, Thompson Mary Ann
Department of Pathology, Microbiology, & Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
Vanderbilt University School of Medicine, Nashville, TN, USA.
Leuk Lymphoma. 2022 Jan;63(1):212-216. doi: 10.1080/10428194.2021.1975191. Epub 2021 Sep 6.
Chronic myeloid leukemia (CML), a myeloproliferative neoplasm defined by the presence of the BCR-ABL1 oncogene created by the reciprocal translocation (9;22)(q34.1;q11.2), can often be controlled by medications that inhibit this constitutive tyrosine kinase. However, if these therapies fail, the disease may progress to a form resembling an acute leukemia. While most of these CML 'blast crises' are characterized by blasts with a myeloid (granulocytic) or lymphoid lineage, these blasts may rarely be predominantly erythroid. Cases of CML erythroid blast crises have been reported; however, secondary pure erythroid leukemia arising from a CML blast crisis has only been definitively reported once before. We report the second definitive case of pure erythroid leukemia with the (9;22)(q34.1;q11.2) presenting as a CML blast crisis and characterize the morphologic, immunophenotypic, flow cytometric, cytogenetic, and molecular findings.
慢性髓性白血病(CML)是一种骨髓增殖性肿瘤,由9号染色体长臂3区4带与22号染色体长臂1区2带相互易位(9;22)(q34.1;q11.2)产生的BCR-ABL1癌基因所定义,通常可用抑制这种组成型酪氨酸激酶的药物来控制。然而,如果这些治疗失败,疾病可能进展为类似急性白血病的形式。虽然大多数这些CML“原始细胞危象”的特征是具有髓系(粒细胞系)或淋巴系的原始细胞,但这些原始细胞很少主要为红系。已有CML红系原始细胞危象的病例报道;然而,由CML原始细胞危象引发的继发性纯红系白血病此前仅被明确报道过一次。我们报告了第二例确诊的以CML原始细胞危象形式出现的伴(9;22)(q34.1;q11.2)的纯红系白血病病例,并对其形态学、免疫表型、流式细胞术分析、细胞遗传学及分子学结果进行了描述。