Hidehito Fukushima

Chromatin landscape and epigenetic heterogeneity of acute myeloid leukaemia

Yotaro Ochi, Markus Liew‐Littorin, Yasuhito Nannya, Sofia Bengtzén et autres

Acute myeloid leukaemia (AML) is an aggressive blood cancer characterized by the unregulated proliferation of immature myeloblasts. Gene mutations have been shown to have a large effect on pathogenesis, inter-tumour heterogeneity and clinical outcomes in AML1–8; however, the role of epigenetic alterations …

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Chromatin landscape and epigenetic heterogeneity of acute myeloid leukemia

Yotaro Ochi, Markus Liew-Littorin, Yasuhito Nannya, Sofia Bengtzén et autres

Abstract Acute myeloid leukemia (AML) is an aggressive hematologic cancer characterized by proliferation of immature myeloblasts. It shows profound molecular heterogeneity, which has been primarily studied through genetic abnormalities, providing the basis for disease classification, prognostication, and therapeutic choice. However, genetic factors …

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Single-cell multi-omics uncovers differentiation-dependent transcriptional programs shaping epigenetic subgroups in AML

Yotaro Ochi, Markus Liew-Littorin, Yasuhito Nannya, Sofia Bengtzén et autres

Abstract Background Acute myeloid leukemia (AML) is a clinically and genetically heterogeneous disease. While traditional classification systems such as FAB relied on morphology and immunophenotype, recent classifications (WHO, ICC) emphasize genetic alterations for diagnosis and therapy. However, more directly involved in the …

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Repertoire of driver events in coding and non-coding regions identified by whole-genome sequencing of myeloid neoplasms

Koji Okazaki, Ryunosuke Saiki, Yotaro Ochi, Kenichi Yoshida et autres

Abstract Introduction: During the past two decades, our knowledge about the molecular pathogenesis of myeloid neoplasms (MNs), including acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) has dramatically been improved through the identification of major driver alterations using next generation sequencing. However, …

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Philadelphia chromosome-positive de novo myelodysplastic syndrome with the p230 BCR::ABL1 fusion gene: a case report

Hidetsugu Kawai, Hidehito Fukushima, Yasuhito Nannya, Makoto Onizuka et autres

De novo Ph-positive MDS with the micro BCR::ABL1 (e19a2/p230) transcript is rare. Here, we report a case of MDS with multilineage dysplasia in an 86-year-old woman. Reverse transcription polymerase chain reaction (RT-PCR) showed the following karyotype: 46, XX, t(9;22)(q34.1;q11.2), i(17)(q10) [20], and …

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Whole-genome sequencing of myeloproliferative neoplasms revealed dynamic clonal changes in the fibrotic or leukemic transformation and novel FOXP1 mutations in the fibrotic transformation

Hiroyuki Takamori, Ying‐Jung Huang, Hidehito Fukushima, Kazuaki Yokoyama et autres

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Deciphering the Heterogeneity of Acute Myeloid Leukemia through Chromatin Accessibility Profiling

Yotaro Ochi, Markus Liew-Littorin, Yasuhito Nannya, Sofia Bengtzén et autres

Background Acute myeloid leukemia (AML) is a heterogeneous disease and is primarily defined by genetic abnormalities. Although accumulating evidence suggests the role of epigenetics in the pathogenesis of AML, it has not fully been investigated in a large cohort of patients. Methods …

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Installment of Automation and Modernized Culture Methods Updates a Drug-Sensitivity Screening Platform and Paves the Way to Next-Generation of Precision Medicine

Kimihito Cojin Kawabata, Chao Li, Hideaki Kakinuma, Hayato Tsuji et autres

Since the field of drug discovery has seen a rise in the use of primary tumor specimens (PTS) derived from patients with hematological malignancies as live materials in ex vivo drug treatments in late 2010s, they have discovered many intriguing phenotypes of …

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Pathogenicity Prediction of Gene Fusion in Structural Variations: A Knowledge Graph-Infused Explainable Artificial Intelligence (XAI) Framework

Katsuhiko Murakami, Shin-ichiro Tago, Sho Takishita, Hiroaki Morikawa et autres

When analyzing cancer sample genomes in clinical practice, many structural variants (SVs), other than single nucleotide variants (SNVs), have been identified. To identify driver variants, the leading candidates must be narrowed down. When fusion genes are involved, selection is particularly difficult, and …

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Acute pancreatitis as the initial manifestation of acute myeloid leukemia with chromosome 16 rearrangements

Hidehito Fukushima, Ken Morita, Masako Ikemura, Mariko Hori Tanaka et autres

Acute pancreatitis is an acute inflammatory process of the pancreas that is becoming an increasingly common clinical issue. The most frequent underlying etiologies include gallstones and chronic alcohol use, which account for more than two-thirds of cases. We recently experienced a rare …

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[COVID-19 development during the treatment of paroxysmal nocturnal hemoglobinuria].

Masahiro Shino, Hiromitsu Iizuka, Hidehito Fukushima, Sho Takeyasu et autres

Paroxysmal nocturnal hemoglobinuria (PNH) is a disorder in which an activated complement causes intravascular hemolysis of erythrocytes that do not have complement regulators. It is critical to monitor the rapid progression of hemolysis caused by infection and thrombosis. As far as we …

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Development of Epstein–Barr virus-associated lymphoproliferative disorder and hemophagocytic lymphohistiocytosis during long-term lenalidomide maintenance therapy in multiple myeloma

Mina Yoshida, Ken Morita, Hidehito Fukushima, Masahiro Jona et autres

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