Hematology/Oncology, Wakayama Medical University, Wakayama 641-8509, Japan.
Acta Haematol. 2013;129(4):238-42. doi: 10.1159/000345727. Epub 2013 Jan 12.
t(8;22)(p11;q11) is a rare but recurrent chromosome translocation that has been reported in 11 cases of myeloproliferative neoplasm or B-acute lymphoblastic leukemia. This translocation results in an in-frame fusion of FGFR1 on 8p11 and BCR on 22q11, and causes constitutive activation of the tyrosine kinase of the BCR/FGFR1 chimera protein. Here, we report the twelfth case of hematological tumor bearing t(8;22)(p11;q11). The bone marrow showed hypoplastic and tri-lineage dysplasia with 24.4% abnormal cells. The abnormal cells were not defined as myeloid or lymphoid morphologically, lacking a myeloperoxidase reaction. Flow cytometric analysis of the bone marrow cells revealed that the abnormal cells expressed CD13, CD33, CD34, and CD19, and that a fraction of the abnormal cells was positive for CD10. Southern blot analysis of the bone marrow cells showed rearrangement of the immunoglobulin heavy chain gene, a genetic hallmark of B-cell differentiation. Previously reported cases with t(8;22)(p11;q11) suggested an association between myeloid and B-lymphoid tumors, whereas other chromosome translocations involving FGFR1 on 8p11 showed a link between myeloid and T-lymphoid tumors. Our observation supports that t(8;22)(p11;q11) might define a dual myeloid and B-lymphoid disorder.
t(8;22)(p11;q11)是一种罕见但反复出现的染色体易位,已在 11 例骨髓增生性肿瘤或 B 急性淋巴细胞白血病中报道。该易位导致 8p11 上的 FGFR1 和 22q11 上的 BCR 发生框内融合,导致 BCR/FGFR1 嵌合蛋白的酪氨酸激酶持续激活。在这里,我们报告了第十二例携带 t(8;22)(p11;q11)的血液肿瘤病例。骨髓显示增生不良和三系发育不良,异常细胞占 24.4%。异常细胞在形态上不能定义为髓系或淋巴样,缺乏髓过氧化物酶反应。骨髓细胞的流式细胞术分析显示,异常细胞表达 CD13、CD33、CD34 和 CD19,并且一部分异常细胞 CD10 阳性。骨髓细胞的 Southern blot 分析显示免疫球蛋白重链基因重排,这是 B 细胞分化的遗传标志。以前报道的 t(8;22)(p11;q11)病例表明髓系和 B 淋巴细胞肿瘤之间存在关联,而涉及 8p11 上的 FGFR1 的其他染色体易位则表明髓系和 T 淋巴细胞肿瘤之间存在关联。我们的观察结果支持 t(8;22)(p11;q11)可能定义为双重髓系和 B 淋巴细胞疾病。