The overarching goal of Dr. Loh’s research is to bring genomic discovery in pediatric leukemia to the clinic, through diagnostics, risk stratification, and therapeutics. She has focused on two childhood blood cancers, acute lymphoblastic leukemia (ALL) and juvenile myelomonocytic leukemia (JMML). Dr. Loh serves as Vice Chair of Biology for the ALL committee of the Children’s Oncology Group (COG). She co-chaired AALL03B1, the Classification of ALL trial, which enrolled more than 11,200 children. Banked samples acquired from enrolled patients have provided abundant material for genomic analysis linked to clinical features and outcome, and these have provided new insights into the genetic underpinnings of ALL. These findings are currently being translated to the clinic, as molecular assays are being developed to identify patients at high risk of treatment failure harboring novel gene rearrangements amenable to tyrosine kinase inhibitor treatment beyond the canonical BCR/ABL fusion gene. Dr. Loh has also made seminal contributions to unraveling the genetics of JMML, a rare but highly aggressive myeloproliferative neoplasm driven by mutations in the Ras pathway. Her group identified two new genes that are mutated in JMML. Her most recent discovery is that CBL mutations frequently arise as germline events with subsequent acquired isodisomy of the mutant allele in JMML cells, thus describing a new familial tumor suppressor gene. She is also poised to introduce targeted therapies for these patients based on preclinical work performed in her lab as well as her colleagues’ labs that support the use of MEK inhibitors for this Ras-driven malignancy.
Mignon Lee-Cheun Loh, MD