Research Summary

My research program has focused on translating genomic and biochemical discoveries in juvenile myelomonocytic (JMML) and acute lymphoblastic leukemia (ALL) into assays and therapies that can be incorporated into clinical trials. My work in JMML has largely focused on dissecting the genomic landscape of JMML, including descriptions of PTPN11 and CBL mutations and the discovery of CBL as a new familial tumor suppressor gene. From these discoveries, I established molecular diagnostic testing for JMML in the CLIA setting at UCSF, which is now utilized in a clinical trial (#ASCT1221). Within the Children’s Oncology Group (COG), I am currently Chair of the COG ALL committee starting in April 2015 and am responsible for supervising and implementing the next generation of national ALL trials for children, adolescents, and young adults. This appointment in part stemmed from my role as a Study Co-Chair of AALL03B1, the Classification of Acute Lymphoblastic Leukemia, which over enrolled 11,200 children, and my role as Vice-Chair of Biology (2008-2015). My unique expertise is being able to straddle the physician-scientist landscape and collaborate with numerous outstanding clinicians and scientists in order to facilitate cutting edge discoveries into patient care. I am a generous collaborator and deeply believe in the concept of team science. I also have experience in developing and running early phase clinical trials for children with cancer.

Research Funding

  • July 1, 2015 - June 30, 2020 - Center for Precision Medicine in Leukemia (CPML), Co-Principal Investigator. Sponsor: NIH/NIGMS, Sponsor Award ID: P50GM115279
  • September 24, 2007 - July 31, 2015 - International Symposium on Juvenile Myelomonocytic Leukemia (JMML), Co-Principal Investigator. Sponsor: NIH/NCI, Sponsor Award ID: R13CA132568
  • September 30, 2010 - September 29, 2013 - Identifying the spectrum of genetic alterations in high risk ALL, Co-Principal Investigator. Sponsor: NIH/NCI, Sponsor Award ID: RC4CA156329
  • September 30, 2009 - December 31, 2012 - Targeted Therapies for Childhood Acute Lymphoblastic Leukemia, Co-Principal Investigator. Sponsor: NIH/NCI, Sponsor Award ID: RC2CA148529


Bryn Mawr College, Bryn Mawr, PA, B.A., 1987, History of Art
Columbia University College of Physicians and Surgeons, M.D., 1991, Medicine
Harvard University School of Public Health, 1999, Clinical Effectiveness
University California San Francisco Medical School, 2001, Advanced Training in Clinical Research

Honors & Awards

  • 1987
    Cum Laude, Bryn Mawr College
  • 1988, 1989
    Harriet Judd Sartain Memorial Scholarship
  • 1990
    Hannah Longshore Memorial Scholarship
  • 1991
    Arnold Gold Foundation Award, Columbia University College of Physicians and Surgeons
  • 1995-1999
    Recipient, Research Training Grant (5T32HL07574), PI: Samuel Lux, MD
  • 1999-2004
    Recipient, K23 award, Mentors: D. Gary Gilliland, MD, Ph.D 1999 and Kevin M. Shannon MD, 2000-2004
  • 1999-2002
    Recipient, Child Health Research Center award, PI: Larry Shapiro, MD, PhD
  • 2007-2012
    Leukemia Lymphoma Society, Scholar in Clinical Research

Selected Publications

  1. Wintering A, Dvorak CC, Stieglitz E, Loh ML. Juvenile myelomonocytic leukemia in the molecular era: a clinician's guide to diagnosis, risk-stratification, and treatment. Blood Adv. 2021 Sep 15.  View on PubMed
  2. Morales CE, Stieglitz E, Kogan SC, Loh ML, Braun BS. Nf1 and Sh2b3 mutations cooperate in vivo in a mouse model of juvenile myelomonocytic leukemia. Blood Adv. 2021 Sep 28; 5(18):3587-3591.  View on PubMed
  3. Mangum DS, Meyer JA, Mason CC, Shams S, Maese LD, Gardiner JD, Downie JM, Pei D, Cheng C, Gleason A, Luo M, Pui CH, Aplenc R, Hunger SP, Loh M, Greaves M, Trede N, Raetz E, Frazer JK, Mullighan CG, Engel ME, Miles RR, Rabin KR, Schiffman JD. Association of Combined Focal 22q11.22 Deletion and IKZF1 Alterations With Outcomes in Childhood Acute Lymphoblastic Leukemia. JAMA Oncol. 2021 Aug 19.  View on PubMed
  4. Tran TH, Nguyen JV, Stecula A, Akutagawa J, Moorman AV, Braun BS, Sali A, Mullighan CG, Shah NP, Dai Y, Devidas M, Roberts KG, Smith CC, Loh ML. The EBF1-PDGFRB T681I mutation is highly resistant to imatinib and dasatinib in vitro and detectable in clinical samples prior to treatment. Haematologica. 2021 08 01; 106(8):2242-2245.  View on PubMed
  5. Xu X, Paxton CN, Hayashi RJ, Dunsmore KP, Winter SS, Hunger SP, Winick NJ, Carroll WL, Loh ML, Devidas M, Gross TG, Bollard CM, Perkins SL, Miles RR. Genomic and clinical characterization of early T-cell precursor lymphoblastic lymphoma. Blood Adv. 2021 07 27; 5(14):2890-2900.  View on PubMed
  6. Leonard J, Wolf JS, Degnin M, Eide CA, LaTocha D, Lenz K, Wilmot B, Mullighan CG, Loh M, Hunger SP, Druker BJ, Loriaux MM, Tyner JW, Chang BH. Aurora A kinase as a target for therapy in TCF3-HLF rearranged acute lymphoblastic leukemia. Haematologica. 2021 Jul 08.  View on PubMed
  7. Lee SHR, Qian M, Yang W, Diedrich JD, Raetz E, Yang W, Dong Q, Devidas M, Pei D, Yeoh A, Cheng C, Pui CH, Evans WE, Mullighan CG, Hunger SP, Savic D, Relling MV, Loh ML, Yang JJ. Genome-Wide Association Study of Susceptibility Loci for TCF3-PBX1 Acute Lymphoblastic Leukemia in Children. J Natl Cancer Inst. 2021 Jul 01; 113(7):933-937.  View on PubMed
  8. Buchmann S, Schrappe M, Baruchel A, Biondi A, Borowitz MJ, Campbell M, Cario G, Cazzaniga G, Escherich G, Harrison CJ, Heyman M, Hunger SP, Kiss C, Liu HC, Locatelli F, Loh ML, Manabe A, Mann G, Pieters R, Pui CH, Rives S, Schmiegelow K, Silverman LB, Stary J, Vora A, Brown PA. Remission, treatment failure, and relapse in pediatric ALL: An international consensus of the Ponte-di-Legno Consortium. Blood. 2021 Jun 30.  View on PubMed
  9. Behnert A, Meyer J, Parsa JY, Hechmer A, Loh ML, Olshen A, de Smith AJ, Stieglitz E. Exploring the genetic and epigenetic origins of juvenile myelomonocytic leukemia using newborn screening samples. Leukemia. 2021 Jun 28.  View on PubMed
  10. Li Y, Yang W, Devidas M, Winter SS, Kesserwan C, Yang W, Dunsmore KP, Smith C, Qian M, Zhao X, Zhang R, Gastier-Foster JM, Raetz EA, Carroll WL, Li C, Liu PP, Rabin KR, Sanda T, Mullighan CG, Nichols KE, Evans WE, Pui CH, Hunger SP, Teachey DT, Relling MV, Loh ML, Yang JJ. Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia. J Clin Invest. 2021 Jun 24.  View on PubMed
  11. Montefiori LE, Bendig S, Gu Z, Chen X, Polonen P, Ma X, Murison A, Zeng A, Garcia-Prat L, Dickerson K, Iacobucci I, Abdelhamed S, Hiltenbrand R, Mead PE, Mehr CM, Xu B, Cheng Z, Chang TC, Westover T, Ma J, Stengel A, Kimura S, Qu C, Valentine MB, Rashkovan M, Luger S, Litzow MR, Rowe JM, den Boer ML, Wang V, Yin J, Kornblau SM, Hunger SP, Loh ML, Pui CH, Yang W, Crews KR, Roberts KG, Yang JJ, Relling MV, Evans WE, Stock W, Paietta EM, Ferrando AA, Zhang J, Kern W, Haferlach T, Wu G, Dick JE, Klco JM, Haferlach C, Mullighan CG. Enhancer hijacking drives oncogenic BCL11B expression in lineage ambiguous stem cell leukemia. Cancer Discov. 2021 Jun 08.  View on PubMed
  12. Brown PA, Kairalla JA, Hilden JM, Dreyer ZE, Carroll AJ, Heerema NA, Wang C, Devidas M, Gore L, Salzer WL, Winick NJ, Carroll WL, Raetz EA, Borowitz MJ, Small D, Loh ML, Hunger SP. Correction to: FLT3 inhibitor lestaurtinib plus chemotherapy for newly diagnosed KMT2A-rearranged infant acute lymphoblastic leukemia: Children's Oncology Group trial AALL0631. Leukemia. 2021 May; 35(5):1527.  View on PubMed
  13. Liu Y, Yang W, Smith CA, Cheng C, Karol SE, Larsen EC, Winick N, Carroll WL, Loh ML, Raetz EA, Hunger SP, Winter SS, Dunsmore KP, Devidas M, Yang JJ, Evans WE, Jeha S, Pui CH, Inaba H, Relling MV. Class II Human Leukocyte Antigen Variants Associate With Risk of Pegaspargase Hypersensitivity. Clin Pharmacol Ther. 2021 09; 110(3):794-802.  View on PubMed
  14. Zhang H, Liu AP, Devidas M, Lee SH, Cao X, Pei D, Borowitz M, Wood B, Gastier-Foster JM, Dai Y, Raetz E, Larsen E, Winick N, Bowman WP, Karol S, Yang W, Martin PL, Carroll WL, Pui CH, Mullighan CG, Evans WE, Cheng C, Hunger SP, Relling MV, Loh ML, Yang JJ. Association of GATA3 Polymorphisms With Minimal Residual Disease and Relapse Risk in Childhood Acute Lymphoblastic Leukemia. J Natl Cancer Inst. 2021 04 06; 113(4):408-417.  View on PubMed
  15. Schwab C, Roberts K, Boer JM, Göhring G, Steinemann D, Vora A, Macartney C, Hough R, Thorn Z, Dillon R, Escherich G, Cazzaniga G, Schlegelberger B, Loh M, den Boer ML, Moorman AV, Harrison CJ. SSBP2-CSF1R is a recurrent fusion in B-lineage acute lymphoblastic leukemia with diverse genetic presentation and variable outcome. Blood. 2021 04 01; 137(13):1835-1838.  View on PubMed
  16. Mattano LA, Devidas M, Maloney KW, Wang C, Friedmann AM, Buckley P, Borowitz MJ, Carroll AJ, Gastier-Foster JM, Heerema NA, Kadan-Lottick NS, Matloub YH, Marshall DT, Stork LC, Loh ML, Raetz EA, Wood BL, Hunger SP, Carroll WL, Winick NJ. Favorable Trisomies and ETV6-RUNX1 Predict Cure in Low-Risk B-Cell Acute Lymphoblastic Leukemia: Results From Children's Oncology Group Trial AALL0331. J Clin Oncol. 2021 May 10; 39(14):1540-1552.  View on PubMed
  17. Yang W, Devidas M, Liu Y, Smith C, Dai Y, Winick N, Hunger SP, Loh ML, Raetz EA, Larsen EC, Carroll WL, Winter SS, Dunsmore KP, Mattano LA, Relling MV, Karol SE. Genetics of osteonecrosis in pediatric acute lymphoblastic leukemia and general populations. Blood. 2021 03 18; 137(11):1550-1552.  View on PubMed
  18. Matthijssens F, Sharma ND, Nysus M, Nickl CK, Kang H, Perez DR, Lintermans B, Van Loocke W, Roels J, Peirs S, Demoen L, Pieters T, Reunes L, Lammens T, De Moerloose B, Van Nieuwerburgh F, Deforce DL, Cheung LC, Kotecha RS, Risseeuw MD, Van Calenbergh S, Takarada T, Yoneda Y, van Delft FW, Lock RB, Merkley SD, Chigaev A, Sklar LA, Mullighan CG, Loh ML, Winter SS, Hunger SP, Goossens S, Castillo EF, Ornatowski W, Van Vlierberghe P, Matlawska-Wasowska K. RUNX2 regulates leukemic cell metabolism and chemotaxis in high-risk T cell acute lymphoblastic leukemia. J Clin Invest. 2021 03 15; 131(6).  View on PubMed
  19. Hirabayashi S, Butler ER, Ohki K, Kiyokawa N, Bergmann AK, Möricke A, Boer JM, Cavé H, Cazzaniga G, Yeoh AEJ, Sanada M, Imamura T, Inaba H, Mullighan C, Loh ML, Norén-Nyström U, Pastorczak A, Shih LY, Zaliova M, Pui CH, Haas OA, Harrison CJ, Moorman AV, Manabe A. Clinical characteristics and outcomes of B-ALL with ZNF384 rearrangements: a retrospective analysis by the Ponte di Legno Childhood ALL Working Group. Leukemia. 2021 Mar 10.  View on PubMed
  20. Brown PA, Ji L, Xu X, Devidas M, Hogan LE, Borowitz MJ, Raetz EA, Zugmaier G, Sharon E, Bernhardt MB, Terezakis SA, Gore L, Whitlock JA, Pulsipher MA, Hunger SP, Loh ML. Effect of Postreinduction Therapy Consolidation With Blinatumomab vs Chemotherapy on Disease-Free Survival in Children, Adolescents, and Young Adults With First Relapse of B-Cell Acute Lymphoblastic Leukemia: A Randomized Clinical Trial. JAMA. 2021 03 02; 325(9):833-842.  View on PubMed

Go to UCSF Profiles, powered by CTSI