Primitive neuroectodermal tumor (PNET) with massive bone marrow invasion simulating the initial diagnosis of acute leukemia

Abstract

Introduction: Primitive neuroectodermal tumors (PNETs), although rare, are more frequent in ado­lescence. They generally affect the central nervous system, bones, or soft tissues. Objective: To demon­strate, through a case report, the difficult assertive and early diagnosis of a solid neoplasm primarily invading the bone marrow, with an atypical clinical presentation, which may simulate acute leukemia. Methods: Collecting clinical, laboratory, and medical data in the Clinical Medicine and Hematology units of Hucam. Results: Female patient, 19 years old, initially presented cutaneous-mucosal bleed­ing, associated with normocytic anemia, normal leukogram, thrombocytopenia, and increased lactate dehydrogenase, without other laboratory alterations. Myelogram analysis has shown intense infiltration of the bone marrow by cells with immature characteristics, which strongly suggested acute leukemia. Conclusion: The final diagnosis was a primitive neuroectodermal tumor based on the histopathologi­cal study of the bone marrow biopsy. The diagnosis of some neoplasms is challenging due to their rare incidence and/or atypical clinical presentation. This work raises the importance of clinical correlation with data from laboratory diagnostic investigation, stimulating clinical reasoning in the face of several differential diagnoses, alerting the medical community to similar cases and favoring patient safety, avoiding inappropriate treatments, and interfering with the clinical outcome.