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Translational Medicine / 转化医学molecular pathology

Reiner Siebert

莱纳·西伯特

MD

🏢Ulm University(乌尔姆大学)🌐Germany

Professor and Head, Institute of Human Genetics; Director, Comprehensive Cancer Center Ulm人类遗传学研究所主任教授;乌尔姆综合癌症中心主任

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Key Papers
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Key Contributions

👥Biography 个人简介

Reiner Siebert MD is Professor and Head of the Institute of Human Genetics at Ulm University and Director of the Comprehensive Cancer Center Ulm. He is one of the leading genomic pathologists in Europe, with internationally recognised expertise in the molecular characterisation of haematological malignancies, particularly lymphomas and leukaemias, through whole-genome sequencing, epigenome profiling, and integration of multi-omics data. Siebert was a driving force behind the establishment of molecular pathology diagnostics for lymphoma in Germany and contributed foundational work to the WHO classification of haematopoietic neoplasms. His group performed landmark WGS studies of Burkitt lymphoma, mantle cell lymphoma, and chronic lymphocytic leukaemia, defining the driver landscape and uncovering novel recurrent alterations. He co-led the ICGC Malignant Lymphoma project and produced comprehensive analyses of the non-coding genome in lymphoma. His work on chromothripsis in haematological cancers revealed that catastrophic chromosomal rearrangements are common early events in lymphomagenesis and leukaemogenesis, influencing oncogene activation. Siebert has been at the forefront of translating WGS-based diagnostics into clinical practice within the German Cancer Consortium (DKTK) and was instrumental in establishing the Molecular Tumour Board processes that use WGS to guide treatment decisions for haematological and other malignancies.

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🧪Research Fields 研究领域

Haematological Cancer Genomics血液恶性肿瘤基因组学
Chromothripsis in Haematological Malignancies血液肿瘤染色体碎裂
WGS-Based Cancer Diagnostics基于WGS的癌症诊断
Epigenome in Lymphoma淋巴瘤表观基因组
Copy Number Variation and Cancer拷贝数变异与癌症

🎓Key Contributions 主要贡献

WGS Landscape of Burkitt Lymphoma

Led comprehensive WGS analysis of Burkitt lymphoma, identifying recurrent mutations in TCF3, ID3, CCND3, and novel non-coding regulatory alterations, redefining the molecular pathology of this aggressive lymphoma and distinguishing molecularly defined subtypes.

ICGC Malignant Lymphoma Project

Co-led the ICGC Malignant Lymphoma genome sequencing project, producing WGS data and analyses for thousands of lymphoma samples that defined the driver landscape, mutation patterns, and clinical correlates of major lymphoma subtypes.

Chromothripsis in Haematological Malignancies

Characterised the prevalence and consequences of chromothripsis in CLL, ALL, and lymphoma, demonstrating that chromothriptic rearrangements preferentially amplify oncogenes and inactivate tumour suppressors, contributing to disease initiation and progression.

Clinical WGS Implementation in German Cancer Care

Helped establish WGS-based tumour profiling within DKTK and the German National Cancer Plan, developing clinical-grade WGS analysis pipelines and Molecular Tumour Board processes for haematological and solid cancers, translating research genomics into clinical standard of care.

Representative Works 代表性著作

[1]

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

Cell (2012)

WGS study identifying chromothripsis as a recurrent event in TP53-mutant medulloblastoma, linking catastrophic genome rearrangements to cancer development in a paediatric brain tumour context.

[2]

Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing

Nature Genetics (2012)

Discovery of recurrent ID3 and TCF3 mutations as hallmarks of Burkitt lymphoma through multi-platform genomic analysis, providing a molecular basis for the pathognomonic transcription factor programme of this cancer.

[3]

The landscape of genomic alterations across childhood cancers

Nature (2018)

ICGC paediatric cancer WGS study characterising the somatic and germline landscape of cancer-predisposing mutations across diverse childhood cancer types, including lymphomas and leukaemias.

🏆Awards & Recognition 奖项与荣誉

🏆German Cancer Aid Mildred Scheel Professorship
🏆DKTK Distinguished Researcher Award
🏆European Haematology Association Scientific Achievement Award

📄Data Sources 数据来源

Last updated: 2026-01-15 | All information from publicly available academic sources

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