Division of Hematology, Mayo Clinic, Rochester, MN, USA.
Am J Hematol. 2010 Apr;85(4):238-42. doi: 10.1002/ajh.21631.
Chromosome 8p11.2 translocations result in diverse oncogenic fusion genes involving FGFR1 or MYST3. Among 24,262 unique patient cytogenetic studies performed at the Mayo Clinic, 8p11.2 translocations were identified in 14 cases ( approximately 0.06%). FISH analysis was performed in 13 patients (12 had myeloid neoplasms) and revealed abnormalities of MYST3 (n = 4) or FGFR1 (n = 4) in eight patients. MYST3 abnormalities were associated with acute myeloid leukemia (AML), M4 in three and M6 in one. Three of the four FGFR1-rearranged cases were associated with myeloproliferative neoplasms but none, including the two with sole 8p11.2, displayed the typical phenotype for stem cell leukemia/lymphoma (SCLL) and only one had eosinophilia; the fourth case had AML-M4. FISH did not reveal FGFR1 involvement in the one patient with SCLL. We conclude that neither the SCLL phenotype nor blood eosinophilia is a consistent feature of FGFR1-associated 8p11.2 translocations; conversely, FISH might not always reveal FGFR1 involvement in typical SCLL.
8p11.2 染色体易位导致涉及 FGFR1 或 MYST3 的多种致癌融合基因。在梅奥诊所进行的 24262 项独特的患者细胞遗传学研究中，鉴定出 14 例 8p11.2 易位（约 0.06%）。在 13 例患者中进行了 FISH 分析（12 例患有髓系肿瘤），在 8 例患者中发现了 MYST3（n=4）或 FGFR1（n=4）异常。MYST3 异常与急性髓系白血病（AML）相关，其中 3 例为 M4，1 例为 M6。4 例 FGFR1 重排病例中有 3 例与骨髓增生性肿瘤相关，但没有一例（包括 2 例仅有 8p11.2 的病例）显示出干细胞白血病/淋巴瘤（SCLL）的典型表型，仅有 1 例存在嗜酸性粒细胞增多症；第 4 例为 AML-M4。FISH 未显示出 SCLL 患者中有 FGFR1 参与。我们得出结论，既不是 SCLL 表型，也不是血液嗜酸性粒细胞增多症是 FGFR1 相关 8p11.2 易位的一致特征；相反，FISH 可能并不总是揭示典型 SCLL 中 FGFR1 的参与。
