Kelemen Katalin, Holden Jaclyn, Johnson Laura J, Davion Simone, Robetorye Ryan S
Department of Laboratory Medicine and Pathology, Mayo Clinic Hospital, Phoenix, Arizona.
Department of Pathology, the Billings Clinic, Billings, Montana.
Cytometry B Clin Cytom. 2017 Jul;92(4):310-314. doi: 10.1002/cyto.b.21334. Epub 2016 Feb 5.
B-lymphoblastic leukemias (B-LBL) with combined IGH/BCL2 and MYC rearrangement are rare and their clinical, cytogenetic and immunophenotypic features are not well characterized. Here, we describe a case of a 61-year-old woman with B-LBL associated with these cytogenetic alterations and present a review of the literature of this disease.
Four-color flow cytometry (FC) was performed on a BD FACSCanto II flow cytometer. Data were analyzed with BD FACSDiva software. Cytogenetic, fluorescence in situ hybridization (FISH), and molecular studies were performed by conventional methods. A review of the literature was performed by a PubMed-assisted search.
Including our case, eight B-LBLs associated with a documented "double-hit" karyotype (IGH/BCL2 and 8q24/MYC rearrangement) were identified in the literature (male/female 2/6, age 15-65). Three occurred de-novo, and five had a history of a CD10+ B-cell lymphoma. The typical immunophenotype was CD10, CD19, TdT positive, and negative for CD34 and surface immunoglobulin (Ig), established either by FC or immunohistochemistry. Seven cases were CD20-, and one case was CD20+. Translocation partners of MYC varied, and included IGH, lambda light chain, and an unknown gene on chromosome 9. Prognosis was poor with median survival of five months.
Patients with B-LBL associated with a combined IGH/BCL2 and MYC rearrangement often have a history of a mature B-cell lymphoma. The immunophenotype of these cases is different from that of mature "double-hit" lymphomas; FC is essential to differentiate the B-LBL cases from the leukemic phase of mature B-cell lymphomas. © 2015 International Clinical Cytometry Society.
伴有IGH/BCL2和MYC联合重排的B淋巴细胞母细胞白血病（B-LBL）较为罕见，其临床、细胞遗传学及免疫表型特征尚未得到充分描述。在此，我们报告一例61岁患有B-LBL且伴有这些细胞遗传学改变的女性病例，并对该疾病的文献进行综述。
在BD FACSCanto II流式细胞仪上进行四色流式细胞术（FC）。数据用BD FACSDiva软件进行分析。细胞遗传学、荧光原位杂交（FISH）及分子研究采用常规方法进行。通过PubMed辅助检索对文献进行综述。
包括我们的病例在内，文献中鉴定出8例伴有记录在案的“双打击”核型（IGH/BCL2和8q24/MYC重排）的B-LBL（男/女为2/6，年龄15 - 65岁）。3例为新发，5例有CD10+ B细胞淋巴瘤病史。典型免疫表型为CD10、CD19、TdT阳性，CD34和表面免疫球蛋白（Ig）阴性，通过FC或免疫组化确定。7例为CD20阴性，1例为CD20阳性。MYC的易位伙伴各不相同，包括IGH、λ轻链以及9号染色体上一个未知基因。预后较差，中位生存期为5个月。
伴有IGH/BCL2和MYC联合重排的B-LBL患者常有成熟B细胞淋巴瘤病史。这些病例的免疫表型与成熟的“双打击”淋巴瘤不同；FC对于将B-LBL病例与成熟B细胞淋巴瘤的白血病期区分开来至关重要。© 2015国际临床细胞计量学会
