Li Yan, Hu Shimin, Wang Sa A, Li Shaoying, Huh Yang O, Tang Zhenya, Medeiros L Jeffrey, Tang Guilin
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Mod Pathol. 2016 May;29(5):444-51. doi: 10.1038/modpathol.2016.35. Epub 2016 Feb 26.
Chromosome 8q24/MYC rearrangement is associated with Burkitt lymphoma and some aggressive B-cell lymphomas, but is rare in chronic lymphocytic leukemia. We here report a cohort of 20 chronic lymphocytic leukemia patients with 8q24/MYC rearrangement, 3 detected at time of initial diagnosis and 17 acquired after a median interval of 48 months. At the time when 8q24/MYC arrangement was detected, 18 patients had B-symptoms, 17 had lymphadenopathy, and 17 had splenomegaly. Histologically, typical chronic lymphocytic leukemia morphology was seen in six patients, increased prolymphocytes in nine and Richter's transformation in five patients. Eighteen patients had karyotypic information available that showed t(8;v) in a complex karyotype in 12 patients and in a non-complex karyotype in 6 patients. Fluorescence in situ hybridization confirmed MYC rearrangement in 17/17 patients. All patients required therapy after 8q24/MYC rearrangement was detected. At last follow-up, five of six patients with a non-complex karyotype were alive after a median of 74 months (10~143 months) from the detection of 8q24/MYC rearrangement. In contrast, 10 of 12 patients with a complex karyotype died with a median survival of 5.5 months. We conclude that 8q24/MYC rearrangement in chronic lymphocytic leukemia is rare and often acquired during the course of disease. If it is presented in a complex karyotype, it is often associated with Richter's transformation, refractory to therapy and an aggressive clinical course; on the other hand, if it is present in a non-complex karyotype, patients often respond to risk-adapted therapies and achieve remission.
8号染色体q24/MYC重排与伯基特淋巴瘤及一些侵袭性B细胞淋巴瘤相关，但在慢性淋巴细胞白血病中罕见。我们在此报告一组20例伴有8号染色体q24/MYC重排的慢性淋巴细胞白血病患者，3例在初诊时检测到，17例在中位间隔48个月后获得。在检测到8号染色体q24/MYC重排时，18例患者有B症状，17例有淋巴结病，17例有脾肿大。组织学上，6例患者可见典型的慢性淋巴细胞白血病形态，9例幼淋巴细胞增多，5例发生里氏转化。18例患者有核型信息，其中12例患者在复杂核型中显示t(8;v)，6例患者在非复杂核型中显示。荧光原位杂交证实17/17例患者存在MYC重排。所有患者在检测到8号染色体q24/MYC重排后均需要治疗。在最后随访时，6例非复杂核型患者中有5例在检测到8号染色体q24/MYC重排后中位74个月（10~143个月）存活。相比之下，12例复杂核型患者中有10例死亡，中位生存期为5.5个月。我们得出结论，慢性淋巴细胞白血病中的8号染色体q24/MYC重排罕见，且常在疾病过程中获得。如果它出现在复杂核型中，通常与里氏转化、治疗难治及侵袭性临床病程相关；另一方面，如果它出现在非复杂核型中，患者通常对风险适应性治疗有反应并实现缓解。
