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List of works by Masafumi Seki

A Cryptic NUP214-ABL1 Fusion in B-cell Precursor Acute Lymphoblastic Leukemia.

scientific article published on 6 December 2017

Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy

scientific article published on 25 February 2016

Aggressive Transformation of Juvenile Myelomonocytic Leukemia Associated with Duplication of Oncogenic KRAS due to Acquired Uniparental Disomy

Aggressive transformation of anaplastic large cell lymphoma with increased number of ALK-translocated chromosomes.

scientific article published on 22 November 2014

Association between Chiari malformation and bone marrow failure/myelodysplastic syndrome

scientific article published on 27 July 2013

Atypical dyskeratosis congenita diagnosed using whole-exome sequencing.

scientific article

Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma

scientific article published on 27 March 2014

Blastic transformation of juvenile myelomonocytic leukemia caused by the copy number gain of oncogenic KRAS.

scientific article published on 28 February 2017

Comprehensive genetic analysis of pediatric germ cell tumors identifies potential drug targets

scientific article published on 30 September 2020

Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia.

scientific article published on 24 May 2017

DNA methylation-based classification reveals difference between pediatric T-cell acute lymphoblastic leukemia and normal thymocytes

scientific article published on 15 November 2019

Genome-wide approach to identify second gene targets for malignant rhabdoid tumors using high-density oligonucleotide microarrays

scientific article

Genomic analysis of clonal origin of Langerhans cell histiocytosis following acute lymphoblastic leukaemia

scientific article published on 5 November 2015

Identification of a homozygous JAK3 V674A mutation caused by acquired uniparental disomy in a relapsed early T-cell precursor ALL patient.

scientific article published on 28 November 2014

Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma

scientific article published on 3 July 2015

Integrated genetic and epigenetic analysis revealed heterogeneity of acute lymphoblastic leukemia in Down syndrome

scientific article published on 10 September 2019

Integrated molecular characterization of the lethal pediatric cancer pancreatoblastoma

scientific article

Integrated multiomics analysis of hepatoblastoma unravels its heterogeneity and provides novel druggable targets

scientific article published on 07 July 2020

Kasabach-Merritt phenomenon: a report of 11 cases from a single institution

scientific article

Loss of DNA Damage Response in Neuroblastoma and Utility of a PARP Inhibitor.

scientific article

Metachronous anaplastic sarcoma of the kidney and thyroid follicular carcinoma as manifestations of DICER1 abnormalities

scientific article published on 30 September 2016

Molecular studies reveal MLL-MLLT10/AF10 and ARID5B-MLL gene fusions displaced in a case of infantile acute lymphoblastic leukemia with complex karyotype

scientific article published on 20 June 2017

NOTCH1 pathway activating mutations and clonal evolution in pediatric T-cell acute lymphoblastic leukemia (T-ALL)

scientific article published on 09 January 2019

Partial monosomy of 10p and duplication of another chromosome in two patients

Prophylactic administration of prothrombin complex concentrates for congenital prothrombin deficiency with a novel frameshift mutation, prothrombin saitama

scientific article

Recurrent SPI1 (PU.1) fusions in high-risk pediatric T cell acute lymphoblastic leukemia.

scientific article

RecurrentRARBTranslocations in Acute Promyelocytic Leukemia LackingRARATranslocation

scientific article published on 19 June 2018

Successful treatment of acute myeloid leukemia co-expressing NUP98/NSD1 and FLT3/ITD with preemptive donor lymphocyte infusions

scientific article published on 27 May 2019

Unrelated cord blood transplantation in a child with very severe aplastic anemia

scientific article published in December 2012

[Recurrent SPI1 fusions in pediatric T-cell acute lymphoblastic leukemia: novel mutations with poor prognosis]

scientific article published on 01 January 2018

[Severe aplastic anemia following living-donor liver transplantation for fluminant hepatitis]

scientific article published on 01 November 2012

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