Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Int J Hematol. 2013 Jun;97(6):808-12. doi: 10.1007/s12185-013-1337-5. Epub 2013 Apr 23.
Hematologic malignancies associated with FGFR1 abnormalities present in heterogeneous forms, including myeloproliferative neoplasm, acute myeloid leukemia (AML), T- or B-lineage lymphoblastic leukemia/lymphoma, and even mixed phenotype acute leukemia. In the present report, we describe three new cases of AML associated with FGFR1 abnormalities: AML with minimal differentiation with 45,XY,-7,t(8;13)(p11.2;q12), acute myelomonocytic leukemia with eosinophilia with 48,XY,t(8;9)(p11.2;q33),+19,+21, and AML with minimal differentiation with 46,XX,add(8)(p11.2). FGFR1 abnormalities were confirmed by fluorescence in situ hybridization. We reviewed the records of 19 patients reported from Asian countries, and found that approximately 40 % of cases manifested as acute leukemia associated with myeloid lineage, and 47 % were not accompanied with eosinophilia. These findings highlight the need for detection of FGFR1 abnormalities, not only in myeloproliferative disorder, but also in AML patients even without eosinophilia. The prognosis for this group of neoplasms is poor, and there is no recognized effective targeted treatment. Two patients, including our case, who received allogeneic hematopoietic stem cell transplantation (allo-HSCT) survived. Accumulation of long-term follow-up data can help determine the allo-HSCT protocol or the need for new therapeutic trials to improve the survival rate of patients with FGFR1 abnormalities.
与 FGFR1 异常相关的血液系统恶性肿瘤表现为多种形式,包括骨髓增生性肿瘤、急性髓系白血病(AML)、T 或 B 细胞淋系白血病/淋巴瘤,甚至混合表型急性白血病。本报告描述了 3 例与 FGFR1 异常相关的 AML 新病例:伴有 45,XY,-7,t(8;13)(p11.2;q12) 的极幼稚型 AML、伴有 48,XY,t(8;9)(p11.2;q33),+19,+21 的伴嗜酸粒细胞增多的急性髓单核细胞白血病和伴有 46,XX,add(8)(p11.2) 的极幼稚型 AML。通过荧光原位杂交证实了 FGFR1 异常。我们复习了来自亚洲国家的 19 例患者的记录,发现约 40%的病例表现为伴有髓系的急性白血病,47%的病例不伴嗜酸粒细胞增多。这些发现强调了不仅在骨髓增生性疾病中,而且在 AML 患者中,即使无嗜酸粒细胞增多,也需要检测 FGFR1 异常。这组肿瘤的预后较差,目前尚无公认的有效靶向治疗方法。2 例患者(包括我们的病例)接受异基因造血干细胞移植(allo-HSCT)后存活。积累长期随访数据有助于确定 allo-HSCT 方案或是否需要新的治疗试验以提高 FGFR1 异常患者的生存率。