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Updated: Jul 10, 2026

Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
Graft versus leukemia effect after haploidentical HSCT in a MLL-negative infant AML with HLXB9/ETV6 rearrangement
Julia Hauer1, Sabrina Tosi, Friedhelm R Schuster
1Pediatric Hematology & Oncology, LMU Munich, Dr. von Haunersches Children's Hospital, Munich, Germany. Julia.Hauer@med.uni-muenchen.de
Insights
Infants with acute myeloid leukemia (AML) and the HLXB9/ETV6 rearrangement have extremely poor survival. This case highlights the potential benefit of haploidentical stem cell transplantation in relapsed AML with this high-risk genetic feature.
Area of Science:
- Pediatric Hematology Oncology
- Molecular Genetics
- Stem Cell Transplantation
Background:
- Infants with acute myeloid leukemia (AML) and the HLXB9/ETV6 rearrangement, resulting from t(7;12)(q36;p13) translocation, exhibit extremely poor survival rates.
- Previous data indicate no survivors beyond 3 years, even after allogeneic hematopoietic stem cell transplantation (HSCT).
Observation:
- We report the case of an 8-month-old infant diagnosed with M2 subtype AML and HLXB9/TEL rearrangement.
- The patient underwent a haploidentical HSCT during relapse without prior re-induction chemotherapy.
Findings:
- The patient achieved minimal residual disease (MRD)-negative status 53 days post-HSCT.
- This outcome suggests a potential graft-versus-leukemia (GvL) effect.
Implications:
- This case supports the efficacy of haploidentical HSCT in managing chemoresistant myeloid leukemias with poor-prognosis molecular features.
- The findings underscore the potential of GvL effects in the haploidentical setting for high-risk pediatric AML.
Abstract:
Recently published data show an extremely poor survival of infants with AML and HLXB9/ETV6 rearrangement which is the fusion, resulting from the translocation t(7;12)(q36;p13). None of the patients reported survived a period of 3 years, including four patients who have received allogeneic hematopoietic stem cell transplantation (HSCT). Herein, we report the clinical course of an 8-month-old patient with acute myeloid leukemia, M2 subtype and with a HLXB9/TEL rearrangement. The patient received a haploidentical HSCT in relapse situation without any prior re-induction. The patient became MRD-negative over a period of 53 days after HSCT. This case reinforces the potential benefit of a graft-versus-leukemia effect in the haploidentical setting even in chemoresistant myeloid leukemias with poor-prognosis molecular features.
