T-cell prolymphocytic leukemia (T-PLL) Mimicking Cardiac Disease: Expanding the Spectrum of Initial Presentation

Introduction/Background/Significance: Background: T-cell prolymphocytic leukemia (T-PLL) is a rare and aggressive mature T-cell leukemia, making up 2% of mature leukemias and characterized by profound leukocytosis, splenomegaly, lymphadenopathy, and a poor prognosis. It remains a diagnostic challenge due to the multiple phases of the disease and various signs and symptoms, some of which may mimic other conditions. The disease course is frequently complicated by relapse, posing some difficulties in therapeutic strategies.

Materials and Methods/Case Presentation/Objective: Case Presentation: 66-year-old female with medical history of obesity syndrome presented to the emergency department with progressive worsening cough, shortness of breath, peripheral edema, orthopnea, and paroxysmal nocturnal dyspnea. Transthoracic echocardiography (TTE) showed a preserved ejection fraction (EF) of 65% with no significant valvular disease. Other imaging, namely Computed tomography (CT) of the chest, abdomen, and pelvis revealed bulky thoracic and abdominal lymphadenopathy and splenomegaly. Laboratory findings included marked leukocytosis, anemia, and elevated lactate dehydrogenase (LDH) and uric acid levels, raising concern for a high tumor burden. Lymphoproliferative disease was suspected, and flow cytometry revealed a CD3+, CD4+, and CD52+ T-cell clonality. Cytogenetic and FISH analyses revealed a t(14;14)(q11.2;q32) translocation and other genetic co-abnormalities of chromosome 8 and 11. Bone marrow biopsy showed extensive marrow involvement of neoplastic T-cells.

Results/Description/Main Outcome Measures: Outcome: Our patient met all major diagnostic criteria for T-PLL and was enrolled in a clinical trial investigating combined ruxolitinib and duvelisib therapy, while also being evaluated for bone marrow transplant.

Conclusions: Conclusion: This case highlights an unusual subacute presentation of T-PLL with cardiopulmonary symptoms secondary to thoracic lymphadenopathy. No other case reports have exhibited such a unique presentation of T-PLL— one that mimics CHF, such as in this patient, showing the clinical variability of this pathology. In addition to discussing the clinical features and diagnostic evaluation of T-PLL, this case also contributes to the exploration of the genetic complexity of T-PLL and the potential role of targeted therapies. The patient's cytogenetic profile such as extensive gain of MYC function may indicate a more aggressive disease course. Despite initial improvement with alemtuzumab in other cases, many patients relapse, highlighting the need for more innovative therapies, such as JAK/STAT inhibitors. The patient was referred for a clinical trial which includes one such agent.