International Journal of Hematology

, Volume 104, Issue 1, pp 139–143 | Cite as

Hematopoietic stem cell transplantation for pediatric mature B-cell acute lymphoblastic leukemia with non-L3 morphology and MLL-AF9 gene fusion: three case reports and review of the literature

  • Takeo Sarashina
  • Haruko Iwabuchi
  • Naoyuki Miyagawa
  • Masahiro Sekimizu
  • Tomoko Yokosuka
  • Kunio Fukuda
  • Satoshi Hamanoue
  • Fuminori Iwasaki
  • Shoko Goto
  • Masae Shiomi
  • Chihaya Imai
  • Hiroaki Goto
Case Report
  • 292 Downloads

Abstract

Mature B-cell acute lymphoblastic leukemia (B-ALL) is typically associated with French-American-British (FAB)-L3 morphology and MYC gene rearrangement. However, rare cases of mature B-ALL with non-L3 morphology and MLL-AF9 fusion have been reported, and such cases are characterized by a rapid and aggressive clinical course. We here report three such cases of pediatric mature B-ALL in female patients respectively aged 15 months, 4 years, and 4 months. Bone marrow smears at diagnosis showed FAB-L1 morphology in all patients. Immunophenotypically, they were positive for cluster of differentiation (CD)10, CD19, CD20 (or CD22), Human Leukocyte Antigen-DR, and surface immunoglobulin λ. No evidence of MYC rearrangement was detected in any of the cases by fluorescent in situ hybridization (FISH) analysis. However, MLL rearrangement was detected by FISH, and MLL-AF9 fusion was confirmed by reverse transcriptase-polymerase chain reaction. All patients achieved complete remission after conventional chemotherapy and subsequently underwent hematopoietic stem cell transplantation as high-risk ALL; patient 3 for infantile ALL with MLL rearrangement and the others for ALL with MLL rearrangement and hyperleukocytosis (white blood cell count at diagnosis >50 × 109/L). At the latest follow-up for each case (12–98 months post-transplantation), complete remission was maintained. Moreover, we discuss the clinical, genetic, and immunophenotypic features of this rare disease.

Keywords

MLL-AF9 Non-L3 morphology Stem cell transplantation Mature B-ALL 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare no conflict of interests.

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Copyright information

© The Japanese Society of Hematology 2016

Authors and Affiliations

  • Takeo Sarashina
    • 1
    • 3
  • Haruko Iwabuchi
    • 2
  • Naoyuki Miyagawa
    • 1
  • Masahiro Sekimizu
    • 1
  • Tomoko Yokosuka
    • 1
  • Kunio Fukuda
    • 1
  • Satoshi Hamanoue
    • 1
  • Fuminori Iwasaki
    • 1
  • Shoko Goto
    • 1
  • Masae Shiomi
    • 1
  • Chihaya Imai
    • 2
  • Hiroaki Goto
    • 1
  1. 1.Division of Hemato-Oncology/Regenerative MedicineKanagawa Children’s Medical CenterYokohamaJapan
  2. 2.Department of Homeostatic Regulation and DevelopmentNiigata University Graduate School of Medical and Dental SciencesNiigataJapan
  3. 3.Department of PediatricsAsahikawa Medical UniversityAsahikawaJapan

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