Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants

Adela Escudero; Masatoshi Takagi; Franziska Auer; Ulrike Anne Friedrich; Satoshi Miyamoto; Atsushi Ogawa; Kohsuke Imai; Barbara Pascual; María Vela; Polina Stepensky; Layal Yasin; Sarah Elitzur; Arndt Borkhardt; Antonio Pérez-Martínez; Julia Hauer

doi:10.1038/s41375-022-01661-7

Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants

Leukemia. 2022 Sep;36(9):2338-2342. doi: 10.1038/s41375-022-01661-7. Epub 2022 Jul 28.

Authors

Adela Escudero^{1

2}, Masatoshi Takagi³, Franziska Auer⁴, Ulrike Anne Friedrich⁵, Satoshi Miyamoto⁶, Atsushi Ogawa⁷, Kohsuke Imai⁸, Barbara Pascual², María Vela², Polina Stepensky⁹, Layal Yasin¹⁰, Sarah Elitzur¹¹, Arndt Borkhardt¹⁰, Antonio Pérez-Martínez^{2

12

13}, Julia Hauer¹⁴

Affiliations

¹ Department of Genetics, Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.
² Translational Research Group in Pediatric Oncology, Hematopoietic Transplantation & Cell Therapy, Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid, Spain.
³ Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. m.takagi.ped@tmd.ac.jp.
⁴ Department of Pediatrics, Children's Cancer Research Center, Kinderklinik München Schwabing, School of Medicine, Technical University of Munich, Munich, Germany.
⁵ Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital "Carl Gustav Carus", Technical University Dresden (TUD), Dresden, Germany.
⁶ Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
⁷ Department of Pediatrics, Niigata Cancer Center, Niigata, Japan.
⁸ Department of Community Pediatrics, Perinatal and Maternal Medicine Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
⁹ Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
¹⁰ Department of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich-Heine University Duesseldorf, Medical Faculty, Duesseldorf, Germany.
¹¹ Pediatric Hematology-Oncology, Schneider Children's Medical Center and Sackler Faculty of Medicine, Tel-Aviv university, Tel-Aviv, Israel.
¹² Pediatric Hemato-Oncology Department, La Paz University Hospital, Madrid, Spain.
¹³ Pediatric Department, Faculty of Medicine, Autonomous University of Madrid, Madrid, Spain.
¹⁴ Department of Pediatrics, Children's Cancer Research Center, Kinderklinik München Schwabing, School of Medicine, Technical University of Munich, Munich, Germany. julia.hauer@mri.tum.de.

PMID: 35902733
DOI: 10.1038/s41375-022-01661-7

No abstract available

Publication types

Research Support, Non-U.S. Gov't
Letter

MeSH terms

Genetic Predisposition to Disease
Germ Cells
Germ-Line Mutation
Humans
Leukemia*
PAX5 Transcription Factor*

Substances

PAX5 Transcription Factor
PAX5 protein, human