RESUMO
BACKGROUND: Mixed phenotype acute leukemia (MPAL) is a rare subset of acute leukemia in the pediatric population associated with genetic alterations seen in both acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). CASE: We describe a patient with MPAL with a NUP98 (nucleoporin 98)-NSD1 gene fusion (nuclear receptor binding SET domain protein1) and NRAS (neuroblastoma RAS viral oncogene homolog mutation) p.Gly61Arg mutation who was treated with upfront AML-based chemotherapy, received hematopoietic stem cell transplant (HSCT), but unfortunately died from relapsed disease. CONCLUSION: This case highlights the challenges faced in choosing treatment options in MPAL patients with complex genomics, with predominant myeloid features.
Assuntos
GTP Fosfo-Hidrolases/genética , Leucemia Mieloide Aguda/diagnóstico , Proteínas de Membrana/genética , Neoplasias Complexas Mistas/diagnóstico , Proteínas de Fusão Oncogênica/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biópsia , Medula Óssea/patologia , Evolução Fatal , Feminino , Transplante de Células-Tronco Hematopoéticas , Humanos , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/patologia , Leucemia Mieloide Aguda/terapia , Mutação , Terapia Neoadjuvante , Neoplasias Complexas Mistas/genética , Neoplasias Complexas Mistas/patologia , Neoplasias Complexas Mistas/terapia , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapiaRESUMO
Extramedullary hematopoiesis (EMH) is hematopoiesis occurring outside of the bone marrow. It has been reported to develop in abdominal organs or lymph nodes after chemotherapy. Here, the authors describe a patient with a localized central nervous system embryonal tumor who, during intensive chemotherapy, developed dural nodules. Biopsy revealed these nodules to be EMH. Without a pathologic diagnosis, this may have been considered disease progression, altering the patient's treatment plan. This report intends to serve as a reminder that EMH should be included in the differential diagnosis of suspicious lesions and highlights the importance of their biopsy because of potential management implications.