SUMMARY
Mithun V. Shah, M.D., Ph.D., is a hematologist who dedicates his research to improving outcomes for patients with high-risk myeloid malignancies, particularly TP53-mutated leukemia — a subtype known for its aggressive nature and lack of effective treatments. He integrates molecular biology, drug discovery and clinical investigation to understand the mechanisms driving disease progression and treatment resistance.
Dr. Shah has published nearly 200 peer‑reviewed articles in leading journals and has served as a reviewer for numerous journals and funding agencies. He is deeply committed to mentoring the next generation of researchers and does so by guiding trainees and junior faculty in developing their research careers.
Focus areas
- TP53-deficient myeloid neoplasms. Dr. Shah's laboratory is investigating the spindle assembly checkpoint as a key target for treatment of TP53-mutated leukemia. By targeting components of the checkpoint, the researchers aim to selectively eliminate these cancer cells. Their work is supported by one of the largest databases of TP53‑mutated leukemia that is connected with a biobank comprising samples from over 600 patients.
- Risk stratification and classification. Dr. Shah's research works to classify and predict outcomes in TP53‑mutated myeloid neoplasms. He has demonstrated that variant allele frequency thresholds predict survival. He also has contributed to refining diagnostic criteria in the World Health Organization and International Consensus Classification systems. These efforts improve diagnostic accuracy and guide treatment decisions.
- Therapy-related myeloid neoplasms. Dr. Shah examines myeloid neoplasms that arise after cytotoxic therapies, including cellular therapies such as chimeric antigen receptor T‑cell therapy (CAR‑T) and autologous stem cell transplant. His work identified a precursor state known as therapy-related clonal cytopenia of undetermined significance. Through immunophenotyping and collaborative clinical studies, he focuses on early disease markers and strategies for early detection and intervention.
- Population-level studies of rare blood cancers. Dr. Shah conducts comprehensive, population‑based analyses of rare myeloid neoplasms using national databases such as the National Institutes of Health's Surveillance, Epidemiology, and End Results Program and the National Cancer Database. His research provides information on disease incidence, survival patterns and causes of death, supporting public health strategies and clinical guidelines for conditions including large granular lymphocytic leukemia, histiocytic neoplasms and myeloid neoplasms.
- Histiocytic conditions research. As a founding member of the Mayo Clinic Histiocytosis Working Group, Dr. Shah studies treatment approaches for rare histiocytic conditions, including Langerhans cell histiocytosis, Erdheim‑Chester disease and Rosai‑Dorfman disease. His work focuses on targeted therapies guided by molecular alterations — such as mitogen‑activated protein kinase inhibitors — with the goal of improving patient outcomes.
Significance to patient care
Dr. Shah's research helps healthcare professionals better understand and treat some of the most challenging blood cancers. By looking at why some types of leukemia grow so quickly, Dr. Shah finds new ways to detect these conditions earlier and develops treatments that work more effectively. His work also helps identify patients at higher risk so they can receive the right care sooner. This means patients may have a better chance to live longer and feel healthier.
Professional highlights
- Mayo Clinic:
- Member, Hematology Advanced Research and Translation Committee, 2020-present.
- Member, Scientific Review Committee A, Mayo Clinic Cancer Center, 2020-present.
- Director, Mayo Clinic Transplant Biobank, 2019-present.
- Principal investigator, Mayo Clinic President's Strategic Initiative Fund, Accelerate Development of Therapies for TP53-Mutated Leukemia, 2025-2027.
- Clinician Career Development Award in Transplant Research Honoring Brigid Kiley, 2021-2025.
- Innovation Accelerator Award, Office of Translation to Practice, 2024.
- Paul Calabresi K12 Career Development Award Program in Hematology/Oncology, Mayo Clinic Comprehensive Cancer Center, 2016.
- Editorial board, American Journal of Hematology, 2023-present.
- New Investigator Award, Leukemia Research Foundation, 2021-2022.
- Invited reviewer, Netherlands Organisation for Scientific Research, 2013-2017.
- Invited reviewer, Bill and Melinda Gates Foundation Grants, 2012-2014.