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A previously healthy 47-year-old Chinese man presented in January 2009 with extreme fatigue, fever, and night sweats. Hepatomegaly (palpable, 2 cm in the right hypochondrium) and splenomegaly (palpable, 2 cm in the left hypochondrium) were identified, and axillary lymph nodes were swollen. A laboratory investigation showed a white blood cell (WBC) count of 39.8 × 109/L with eosinophils 52% (absolute eosinophil count of 20.7 × 109/L), hemoglobin level of 14.9 g/dl and platelet count of 50.0 × 109/L. Bone marrow (BM) aspirate revealed hypercellular and occupied by approximately 22.0% blasts; eosinophils comprised 23.5% of total cellularity [Figure 1a]. Flow cytometry of these blast cells demonstrated expression of CD13, CD33, CD34, CD117, CD14, CD15, and human leukocyte antigen-DR indicating that myeloblasts were presented. Cytogenetic studies on BM showed a 46, XY, t (8;13)(p11.2;q12.1)[15]/46, idem,-7, der (14), +Mar[5] karyotype [Figure 1c]. Reverse transcriptase-polymerase chain reaction (RT-PCR) was performed to detect gene rearrangements of BCR/ABL, FIPIL1/PDGFRA, TEL/PDGFRB were all negative as well as c-KIT and JAK2V617F mutations. Fluorescence in situ hybridization using a dual-fusion probe confirmed FGFR1 gene rearrangement [Figure 1b], the ZNF198-FGFR1 fusion test was done by RT-PCR using ZNF198-and FGFR1-specific primers (5′-TCCCTGTGCCTGTG TATATCCC-3′ and 5′-CGGGAAGCTCATACTCAGAGAC-3′, respectively) and showed a specific amplification product of 195 bp [Figure 1d]. Sequencing identified an in-frame fusion of exon 17 of ZNF198 to exon 9 of FGFR1 [Figure 1e], which was indicative of 8p11 myeloproliferative syndrome (EMS, World Health Organization [WHO] 2008, myeloid and lymphoid neoplasms with FGFR1 abnormalities[1]). Treatment was started with imatinib (400 mg once daily) plus urbason (40 mg once daily) at day 5, about 2 weeks after initiating treatment, WBC count (30.43 × 109/L) did not achieve a significant decrease and the level of hemoglobin and platelet count gradually reduced to 8.6 g/dl and 10.0 × 109/L, respectively. Therefore, imatinib and urbason therapy was stopped. Subsequently, the patient received AA (aclacinomycin plus cytarabine) regimen and had a marked initial response to the first cycle of chemotherapy: The WBC and platelet count returned to normal. However, 25 days later, the patient again developed worse, his WBC rose to 52.7 × 109/L. BM study revealed inadequate aspirate due to dry tap. At the time, a bone biopsy was performed and revealed a hypercellular with marked hypereosinophilia. High-dose cytarabine therapy was recommended and completed. Nonetheless, the patient failed to respond to aggressive chemotherapy and supportive treatment. He died in May 2009, 5 months after the initial diagnosis.    Figure 1  (a) Morphologic changes of bone marrow (BM) smear (Wrighte Giemsa, 1 000) showed markedly increased abnormal myeloblasts with eosinophils. (b) Fluorescence in situ hybridization analysis of BM cells with an FGFR1 break-apart DNA probe revealing FGFR1 ...

A Case with ZNF198-FGFR1 Gene Rearrangement Presenting as Acute Eosinophil Myeloid Leukemia