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Now showing items 1 - 4 of 4

  • Deferoxamine retinopathy: spectral domain-optical coherence tomography findings

    Cheng-Hsiu Wu   Chao-Ping Yang   Chi-Chun Lai   Wei-Chi Wu   Yi-Hsing Chen  

    Background: To describe the spectral domain optical coherence tomography (SD-OCT) findings of a patient who developed pigmentary retinopathy following high-dose deferoxamine administration. Case presentation: A 34-year-old man with thalassemia major complained of nyctalopia and decreased vision following high-dose intravenous deferoxamine to treat systemic iron overload. Fundus examination revealed multiple discrete hypo-pigmented lesions at the posterior pole and mid-peripheral retina. Recovery was partial following cessation of desferrioxamine six weeks later. A follow-up SD-OCT showed multiple accumulated hyper-reflective deposits primarily in the choroid, retina pigment epithelium (RPE), and inner segment and outer segment (IS/OS) junction. Conclusion: Deferoxamine retinopathy primarily targets the RPE-Bruch membrane-photoreceptor complex, extending from the peri-fovea to the peripheral retina with foveola sparing. An SD-OCT examination can serve as a simple, noninvasive tool for early detection and long-term follow-up.
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  • Gene Mutation Patterns in Patients with Minimally Differentiated Acute Myeloid Leukemia

    Hsiao-Wen Kao   Der-Cherng Liang   Jin-Hou Wu   Ming-Chung Kuo   Po-Nan Wang   Chao-Ping Yang   Yu-Shu Shih   Tung-Huei Lin   Yu-Hui Huang   Lee-Yung Shih  

    Abstract Minimally differentiated acute myeloid leukemia (AML-M0) is a rare subtype of AML with poor prognosis. Although genetic alterations are increasingly reported in AML, the gene mutations have not been comprehensively studied in AML-M0. We aimed to examine a wide spectrum of gene mutations in patients with AML-M0 to determine their clinical relevance. Twenty gene mutations including class I, class II, class III of epigenetic regulators ( IDH1 , IDH2 , TET2 , DNMT3A , MLL- PTD, ASXL1 , and EZH2 ), and class IV (tumor suppressor genes) were analyzed in 67 patients with AML-M0. Mutational analysis was performed with polymerase chain reaction–based assays followed by direct sequencing. The most frequent gene mutations from our data were FLT3 -ITD/ FLT3 -TKD (28.4%), followed by mutations in IDH1 / IDH2 (28.8%), RUNX1 (23.9%), N- RAS /K- RAS (12.3%), TET2 (8.2%), DNMT3A (8.1%), MLL -PTD (7.8%), and ASXL1 (6.3%). Seventy-nine percent (53/67) of patients had at least one gene mutation. Class I genes (49.3%) were the most common mutated genes, which were mutually exclusive. Class III genes of epigenetic regulators were also frequent (43.9%). In multivariate analysis, old age [hazard ratio (HR) 1.029, 95% confidence interval (CI) 1.013-1.044, P = .001) was the independent adverse factor for overall survival, and RUNX1 mutation (HR 2.326, 95% CI 0.978-5.533, P = .056) had a trend toward inferior survival. In conclusion, our study showed a high frequency of FLT3 , RUNX1 , and IDH mutations in AML-M0, suggesting that these mutations played a role in the pathogenesis and served as potential therapeutic targets in this rare and unfavorable subtype of AML.
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  • Cooperating gene mutations in childhood acute myeloid leukemia with special reference on mutations of ASXL1, TET2, IDH1, IDH2, and DNMT3A.

    Der-Cherng Liang   Hsi-Che Liu   Chao-Ping Yang   Tang-Her Jaing   Iou-Jih Hung   Ting-Chi Yeh   Shih-Hsiang Chen   Jen-Yin Hou   Ying-Jung Huang   Yu-Shu Shih   Yu-Hui Huang   Tung-Huei Lin   Lee-Yung Shih  

    Gene mutations involving epigenetic regulators recently have been described in adult acute myeloid leukemia (AML). Similar studies are limited in children. We analyzed gene mutations and cooperation in pediatric AML with special reference on mutated epigenetic regulators. Nineteen gene mutations, including 8 class I genes, 4 class II genes, WT1 and TP53 (class III), and 5 epigenetic regulator genes (class IV), were analyzed in 206 children with de novo AML. Mutational analysis was performed with polymerase chain reaction-based assay followed by direct sequencing. One hundred seventeen of 206 patients (56.8%) had at least one mutation: 51% class I, 13% class II, 6.8% class III, and 5.6% class IV. FLT3-internal tandem duplication was most frequent, and 29% of patients had more than one gene mutation. Two patients carried ASXL1 mutations, both with t(8;21), 2 had DNMT3A mutations, 2 had IDH1 mutations, 1 had IDH2 mutation, and 3 had TET2 mutations. Both patients with IDH1 mutations had AML-M0 subtype and MLL-partial tandem duplication. Cooperating mutations with mutated epigenetic regulators were observed in 8 of 10 patients. We conclude that mutated epigenetic regulators were much less than those in adult AML but with frequent cooperating mutations. ASXL1, TET2, and IDH1 mutations were associated with specific genetic subtypes.
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  • Deferoxamine retinopathy: spectral domain-optical coherence tomography findings

    Cheng-Hsiu Wu   Chao-Ping Yang   Chi-Chun Lai   Wei-Chi Wu   Yi-Hsing Chen  

    BACKGROUND To describe the spectral domain optical coherence tomography (SD-OCT) findings of a patient who developed pigmentary retinopathy following high-dose deferoxamine administration. CASE PRESENTATION A 34-year-old man with thalassemia major complained of nyctalopia and decreased vision following high-dose intravenous deferoxamine to treat systemic iron overload. Fundus examination revealed multiple discrete hypo-pigmented lesions at the posterior pole and mid-peripheral retina. Recovery was partial following cessation of desferrioxamine six weeks later. A follow-up SD-OCT showed multiple accumulated hyper-reflective deposits primarily in the choroid; retina pigment epithelium (RPE); and inner segment and outer segment (IS/OS) junction. CONCLUSION Deferoxamine retinopathy primarily targets the RPE-Bruch membrane-photoreceptor complex; extending from the peri-fovea to the peripheral retina with foveola sparing. An SD-OCT examination can serve as a simple; noninvasive tool for early detection and long-term follow-up.
    Download Collect
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