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Chronic Myelomonocytic Leukemia in a Patient With a Germline Predisposition and Short Telomeres

Nageshwar, Monika MD*; Duong, Vu H. MD; Koka, Rima MD, PhD*; Singh, Zeba MBBS*; Kallen, Michael E. MD*

doi: 10.1097/PCR.0000000000000345
Case Reviews

Myeloid neoplasms with germline predisposition are an increasingly recognized category within the World Health Organization classification. Detection requires a high degree of suspicion, with mounting awareness of clinically silent phenotypes and heterogeneous presentations, challenging diagnostic and laboratory testing considerations, need for surveillance of disease progression, and unique concerns in donor selection for stem cell transplantation. We describe the case of a patient who presented as a teenager with thrombocytopenia and was later diagnosed with chronic myelomonocytic leukemia, with eventual transformation to acute myeloid leukemia, which has relapsed after stem cell transplantation. She was found to have short telomeres and a TERT mutation, in addition to numerous features suggestive of a germline predisposition syndrome. These findings have not been specifically associated with chronic myelomonocytic leukemia and raise interesting questions about the associations between myelodysplastic/myeloproliferative neoplasms, telomere biology disorders, and the roles of specific myeloid mutations as drivers of disease.

From the *Department of Pathology

Division of Hematology/Oncology, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD.

Reprints: Michael E. Kallen, MD, Department of Pathology, University of Maryland School of Medicine, 22 S Greene St, Baltimore, MD 21201. E-mail:

The authors have no funding or conflicts to declare.

© 2019 Lippincott Williams & Wilkins, Inc.