ABSTRACT
Introduction: Thymomas are a rare form of slow-growing malignancy that originate from thymic epithelial cells presenting as an anterior mediastinal mass. Although most are asymptomatic, they can have a variety of presentations, such as local thoracic symptoms, superior vena cava syndrome, or paraneoplastic syndromes. Local compressive thoracic symptoms include shortness of breath, chest pain, and cough. Superior vena cava syndrome presents with respiratory, vascular, or neurologic symptoms. Paraneoplastic syndromes, such as myasthenia gravis, are due to abnormal T-cell maturation leading to an increased risk of autoimmune conditions. Case Presentation: We report a case of a 71-year-old White male with multiple comorbidities presenting to the emergency room after a mechanical fall with an incidental finding of a 3.8 cm x 6.0 cm anterior mediastinal mass. The patient had no local compressive symptoms or paraneoplastic syndromes. Due to the coronavirus disease 2019 (COVID-19) pandemic, the patient did not follow through with the discharge recommendations for surgical consultation. Over a year later, the patient presented to the emergency room for congestive heart failure exacerbation, and chest computed tomography revealed the mass had increased in size to 8.2 cm x 7.7 cm. A multidisciplinary approach was used to determine the patient's course of treatment. Due to the patient's debilitated state and concern for local invasion, radical thymectomy with mediastinal lymph node dissection was planned. Despite medical optimization and coordination with a multidisciplinary team, following surgery, the patient became symptomatically bradycardic with acute hypoxic respiratory failure. The patient ultimately passed away after pulseless electrical activity and the family's decision to discontinue resuscitation. Conclusion: It is imperative to consider the negative impacts of the COVID-19 pandemic. Delay in treatment allowed the thymoma to rapidly grow, thus leading to a decreased chance for cure. An extensive surgery increased perioperative risks that led to unforeseen complications resulting in the untimely death of the patient.
ABSTRACT
Hematologic tumors are mostly treated with chemotherapies that have poor toxicity profiles. While molecular tumor profiling can expand therapeutic options, our understanding of potential targetable drivers comes from studies of adult liquid tumors, which does not necessarily translate to efficacious treatment in pediatric liquid tumors. There is also no consensus on when profiling should be performed and its use in guiding therapies. We describe a single institution's experience in integrating profiling for liquid tumors. Pediatric patients diagnosed with leukemia or lymphoma and who underwent tumor profiling were retrospectively reviewed. Ten (83.3%) patients had relapsed disease prior to tumor profiling. Eleven (91.7%) patients had targetable alterations identified on profiling, and three (25%) received targeted therapy based on these variants. Of the three patients that received targeted therapy, two (66.7%) were living, and one (33.3%) decreased. For a portion of our relapsing and/or treatment-refractory patients, genetic profiling was feasible and useful in tailoring therapy to obtain stable or remission states. Practitioners may hesitate to deviate from the 'standard of therapy', resulting in the underutilization of profiling results. Prospective studies should identify actionable genetic variants found more frequently in pediatric liquid tumors and explore the benefits of proactive tumor profiling prior to the first relapse.
