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basic / basichematologic oncology

Charles G. Mullighan

查尔斯·穆利根

MBBS(Hons), MD, PhD

🏢St. Jude Children's Research Hospital(圣裘德儿童研究医院)🌐USA

Deputy Director; Member, Department of Pathology; Co-Director, Hematological Malignancies Program副院长;病理系研究员;血液恶性肿瘤项目联合主任

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Key Papers
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Awards
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Key Contributions

👥Biography 个人简介

Charles G. Mullighan, MBBS(Hons), MD, PhD is Deputy Director of St. Jude Children's Research Hospital and a world-leading authority on the genomic landscape of acute lymphoblastic leukemia. Born in Australia and trained at the University of Melbourne before joining St. Jude, Dr. Mullighan has been the defining force in understanding how genetic alterations drive ALL pathogenesis and how genomic subtypes should guide therapy. His foundational 2007 and 2009 Nature papers established that deletion of IKZF1 (encoding the Ikaros transcription factor) is a hallmark of BCR-ABL1-positive and BCR-ABL1-like ALL and a critical determinant of poor prognosis. He co-led the international effort to comprehensively characterize Ph-like ALL, identifying the full spectrum of kinase-activating alterations (CRLF2/JAK pathway, ABL-class fusions, RAS pathway mutations) and demonstrating this subtype comprises approximately 15% of pediatric B-ALL and up to 25-30% of adults. Dr. Mullighan's group has also defined the genomic features of B-ALL in children with Down syndrome, characterizing the unique biology of DS-ALL and elucidating why these patients are both highly sensitive to chemotherapy and at risk for treatment-related toxicities. His work integrating genomic data with clinical outcomes has reshaped ALL risk classification and directly enabled precision medicine trials.

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🧪Research Fields 研究领域

ALL GenomicsALL基因组学
Ph-like ALLPh样ALL
Down Syndrome ALL唐氏综合征ALL
Leukemia Biology白血病生物学
Precision Medicine精准医学

🎓Key Contributions 主要贡献

Defining the Ph-like ALL Genomic Landscape

Co-led comprehensive genomic profiling studies that defined Ph-like ALL as a distinct high-risk subgroup with kinase-activating alterations including CRLF2 rearrangements (P2RY8-CRLF2, IGH-CRLF2), JAK1/2 mutations, and ABL-class fusions (ABL1, ABL2, CSF1R, PDGFRB), providing the molecular basis for targeted therapy trials.

IKZF1 as a Key Prognostic Alteration in ALL

Discovered that IKZF1 deletions define BCR-ABL1-like ALL biology and are independently associated with poor outcome, establishing IKZF1 status as a critical prognostic biomarker now incorporated into clinical risk stratification across major ALL cooperative groups worldwide.

Genomic Characterization of Down Syndrome ALL

Led comprehensive characterization of the unique genomic features of ALL in children with Down syndrome, identifying high rates of CRLF2 overexpression, JAK mutations, and distinct mutational signatures that explain the unique clinical behavior and treatment sensitivity of DS-ALL.

Representative Works 代表性著作

[1]

Genomic Analysis of the Clonal Origins of Relapsed Acute Lymphoblastic Leukemia

Science (2008)

Landmark study demonstrating that ALL relapse can arise from ancestral pre-leukemic clones or from the dominant diagnosis clone, reshaping understanding of relapse biology.

[2]

BCR-ABL1-like Acute Lymphoblastic Leukemia

Journal of Clinical Oncology (2015)

Comprehensive characterization of Ph-like ALL genetic subtypes and therapeutic implications for targeted therapy integration.

🏆Awards & Recognition 奖项与荣誉

🏆St. Jude Faculty Scholar Award
🏆American Society of Hematology E. Donnall Thomas Award
🏆Australian Academy of Science Fellowship (Corresponding Member)

📄Data Sources 数据来源

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

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