Lineage switch in a pediatric patient with KMT2A-MLLT3 from acute megakaryoblastic leukemia to T cell acute lymphoblastic leukemia at the fourth relapse after allo-HSCT: with literature review

We present a patient with acute megakaryoblastic leukemia (AMKL) harboring KMT2A-MLLT3 that converted to T cell acute lymphoblastic leukemia (T-ALL) at her fourth relapse. A 4-year-old girl developed AMKL with multiple swollen lymph nodes. She exhibited several recurrences in the bone marrow and die...

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Veröffentlicht in:International journal of hematology 2023-05, Vol.117 (5), p.781-785
Hauptverfasser: Gao, Li, Lu, Jun, Li, Jie, Hu, Yixin, Lu, Ye, Du, Weiwei, Hu, Shaoyan
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container_issue 5
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container_title International journal of hematology
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creator Gao, Li
Lu, Jun
Li, Jie
Hu, Yixin
Lu, Ye
Du, Weiwei
Hu, Shaoyan
description We present a patient with acute megakaryoblastic leukemia (AMKL) harboring KMT2A-MLLT3 that converted to T cell acute lymphoblastic leukemia (T-ALL) at her fourth relapse. A 4-year-old girl developed AMKL with multiple swollen lymph nodes. She exhibited several recurrences in the bone marrow and died of septic shock after her fourth relapse. Bone marrow cells at the initial diagnosis and at all four relapses had the same KMT2A-MLLT3 fusion transcript. She also developed a somatic mutation (c.7177C > T p.Q2393X) of NOTCH1 at the fourth relapse. This sequential phenotypic and cytogenetic study may yield valuable insights into the mechanism of AMKL to T-ALL lineage switch and possible implications for treatment selection.
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subjects Acute lymphoblastic leukemia
Biopsy
Blood
Bone marrow
Case Report
Chemotherapy
Child
Child, Preschool
Cytogenetics
Drug dosages
Female
Granulocytes
Hematology
Hematopoietic Stem Cell Transplantation
Humans
Leukemia
Leukemia, Megakaryoblastic, Acute - genetics
Leukemia, Megakaryoblastic, Acute - therapy
Literature reviews
Lymph nodes
Lymphatic system
Lymphocytes
Lymphocytes T
Medical prognosis
Medicine
Medicine & Public Health
Notch1 protein
Nuclear Proteins - genetics
Oncology
Patients
Pediatrics
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - genetics
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - therapy
Recurrence
Remission (Medicine)
Sepsis
Septic shock
T-Lymphocytes
title Lineage switch in a pediatric patient with KMT2A-MLLT3 from acute megakaryoblastic leukemia to T cell acute lymphoblastic leukemia at the fourth relapse after allo-HSCT: with literature review
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