VCOM Research Day Program Book 2023

Medical Student Research Case Reports

13 Leukemic Transformation in a Patient with Longstanding Essential Thrombocythemia

Seth J. Weir, OMS III; Frederic Rawlins III, DO; Damian Sooklal, MD Corresponding author:

Edward Via College of Osteopathic Medicine- Virginia Campus Johnston Memorial Hospital

Acute Myeloid Leukemia (AML) is a hematologic neoplasm that is one of the most common types of leukemia in adults, however it only accounts for 1% of all cancers. AML is associated with many genetic pathways, leading to alterations in genetic transcription, apoptosis, chromatic remodeling and protein levels. The JAK-STAT pathway orchestrates cellular proliferation, differentiation, and apoptosis with mutations being linked to both AML and myeloproliferative neoplasms. The most common mutation being JAK V617F occurring in approximately 50% of patients with essential thrombocythemia (ET). It is known, that although rare, it is possible for ET to transform into AML in 1-4% of cases. In the following report, we present a case that details the onset of acute myeloid leukemia in a 60-year-old male with a past medical history of ET with the JAK V617F mutation for the last 15 years

that was being treated with the suppressive therapy, hydroxyurea. This patient presented to the emergency department at JMH due to a ground level fall resulting in a thoracic vertebral wedge fracture. Upon extensive workup the patients CBC revealed pancytopenia. Hematology was consulted due to the patient developing gingival bleeding, purpura, petechiae and hematomas present on the patient’s upper extremities with minor manipulation. Oncology considered pancytopenia due to hydroxyurea suppression and leukemic transformation; a bone biopsy was done demonstrating sheets of atypical cells in necrotic areas making it difficult to further categorize. The cells were found to not be immune viable after numerous immunostaining markers were negative suggesting hemopoietic malignancy. A head CT scan was done when the patient started to deteriorate and revealed a 4mm subdural hematoma. The patient was then

transferred to another facility due to the complexity of this case and treatment strategy that would be needed. This case demonstrates the long-term effects that can be seen with ET, and the signs and symptoms that acute AML can present with. We hope that this case will further bolster the academic literature surrounding this topic and help providers who see similar cases in their careers.


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