Genetic changes in refractory relapsed acute myeloid leukemia with NPM1 mutation:A case report

BACKGROUND Acute myeloid leukemia is often associated with gene mutation or chromosome abnormality,which is an important factor affecting prognosis.The 5-year survival rate of patients with acute myeloid leukemia without hematopoietic stem cell transplantation is low.For patients who only received chemotherapy and whose first remission lasted>5 years,there are few reports of gene spectrum changes between relapse and initial diagnosis.CASE SUMMARY We report a 41-year-old woman who presented to our hospital with complaints of dizziness,poor appetite and wasting.She was diagnosed with acute myelomonocytic leukemia(M4b)with NPM1 mutation and only received chemotherapy.Her first remission lasted>5 years.New genetic variants were detected upon relapse that may have been related to relapse and chemotherapy resistance.CONCLUSION Mutations in WT1(R394fs/A387fs)/PTPN11 T73I/ETV6 S350P and JAK2 W659R may be related to relapse and chemotherapy resistance in acute myeloid leukemia.