NATIONWIDE RETROSPECTIVE STUDY OF GATA2 DEFICIENCY IN JAPAN: CLINICAL SPECTRUM AND TRANSPLANT OUTCOMES

patients (all AML-MRC cases).This included RAS pathway mutations epigenetic or transcription/ proliferation regulators.In one patient dual tp53 mutations were detected at relapse.The remaining 12 patients only had a four-gene NGS panel which was negative.Two GATA2 patients had additional somatic variants.6 patients had no molecular or cytogenetic abnormalities.26/28 patients underwent hematopoietic stem cell transplantation (HSCT), with a second HSCT necessary in 3 cases due to graft failure and one case due to disease relapse.Two patients progressed from MDS-EB to AML, both with germline predisposition and acquired somatic mutations.Two patients died, one due to transplant-related complications, the other one due to refractory disease.Conclusions: The observed genetic landscape corresponded with previous reports.A higher prevalence of patients developing MDS on the background of germline variants, indicates that often disease pathophysiology differs greatly from adult cases.All patients with adverse outcome had complex cytogenetics and/or acquired somatic mutations incl.tp53.These observations highlight the importance of adequate somatic surveillance in high-risk cases.

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Publication Details

Journal
EJC Paediatric Oncology
Published
2025-11-05
DOI
https://doi.org/10.1016/j.ejcped.2025.100382
Primary Topic
Immunodeficiency and Autoimmune Disorders
Type
article
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article

NATIONWIDE RETROSPECTIVE STUDY OF GATA2 DEFICIENCY IN JAPAN: CLINICAL SPECTRUM AND TRANSPLANT OUTCOMES

Masataka Hasegawa, Atsushi Manabe, Tomohiro Morio, Masahiro Onozawa et al.
EJC Paediatric Oncology
Immunodeficiency and Autoimmune Disorders
article

NATIONWIDE RETROSPECTIVE STUDY OF GATA2 DEFICIENCY IN JAPAN: CLINICAL SPECTRUM AND TRANSPLANT OUTCOMES

Masataka Hasegawa, Atsushi Manabe, Tomohiro Morio, Masahiro Onozawa, Shinsuke Hirabayashi, Daisuke Hasegawa, Sanami Takada, Takahiro Kamiya, Hideki Muramatsu, Hideo Harigae, Katsutsugu Umeda, Mineo Kurokawa, Yoshiyuki Takahashi, Hiroki Kato, Kohsuke Imai
article en

Abstract

patients (all AML-MRC cases).This included RAS pathway mutations epigenetic or transcription/ proliferation regulators.In one patient dual tp53 mutations were detected at relapse.The remaining 12 patients only had a four-gene NGS panel which was negative.Two GATA2 patients had additional somatic variants.6 patients had no molecular or cytogenetic abnormalities.26/28 patients underwent hematopoietic stem cell transplantation (HSCT), with a second HSCT necessary in 3 cases due to graft failure and one case due to disease relapse.Two patients progressed from MDS-EB to AML, both with germline predisposition and acquired somatic mutations.Two patients died, one due to transplant-related complications, the other one due to refractory disease.Conclusions: The observed genetic landscape corresponded with previous reports.A higher prevalence of patients developing MDS on the background of germline variants, indicates that often disease pathophysiology differs greatly from adult cases.All patients with adverse outcome had complex cytogenetics and/or acquired somatic mutations incl.tp53.These observations highlight the importance of adequate somatic surveillance in high-risk cases.

EJC Paediatric OncologyVol. 6
Sapporo University (JP), Hokkaido University (JP), Kyoto University (JP), St. Luke's International Hospital (JP), Tokyo Institute of Psychiatry (JP), Tohoku University Hospital (JP), University of Tokyo Hospital (JP), Hokkaido University Hospital (JP), National Defense Medical College (JP), Nagoya University (JP), The University of Tokyo (JP)
Openalex Percentile: Top 66%
Immunodeficiency and Autoimmune Disorders
DOIOpen Access PDFOpenAlex
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