Mature B cell acute lymphoblastic leukaemia with KMT2A-MLLT3 transcripts in children: three case reports and literature reviews.

Background: Mature B cell acute lymphoblastic leukaemia (BAL) is characterised by French-American-British (FAB)-L3 morphology and the presence of surface immunoglobulin (sIgM) light chain restriction. BAL is also considered as the leukaemic phase of Burkitt lymphoma (BL), in which t (8; 14) (q24; q3...

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Publicado en:Orphanet Journal of Rare Diseases Vol. 16; no. 1; pp. 1 - 11
Autores principales: Cui, Yinghui, Zhou, Min, Zou, Pinli, Liao, Xin, Xiao, Jianwen
Formato: research Journal Article
Publicado: BioMed Central 7/30/2021
Acceso en línea:Ver este registro en EBSCOhost
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      dt: 7/30/2021
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      pub: BioMed Central
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        10.1186/s13023-021-01972-5
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        151665139
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        atl: Mature B cell acute lymphoblastic leukaemia with KMT2A-MLLT3 transcripts in children: three case reports and literature reviews.
      aug:
        au:
          Cui, Yinghui
          Zhou, Min
          Zou, Pinli
          Liao, Xin
          Xiao, Jianwen
        affil: Division of Haematology and Oncology, Children's Hospital of Chongqing Medical University, No. 136, Zhongshan 2nd Road, Yuzhong District, 400014, Chongqing, People's Republic of China
      sug:
        subj:
          Leukemia, Lymphocytic, Acute
          Hematopoietic Stem Cell Transplantation
          Lymphoma, B-Cell
          Male
          Human
          B Lymphocytes
          Genes
          Prospective Studies
          Female
          Infant
          Child
          Nuclear Proteins
          Child, Preschool
          Comparative Studies
          Multicenter Studies
          Evaluation Research
          Validation Studies
          Clinical Assessment Tools
          Scales
          Infant: 1-23 months
          Child: 6-12 years
          Child, Preschool: 2-5 years
          Male
          Female
      ab: Background: Mature B cell acute lymphoblastic leukaemia (BAL) is characterised by French-American-British (FAB)-L3 morphology and the presence of surface immunoglobulin (sIgM) light chain restriction. BAL is also considered as the leukaemic phase of Burkitt lymphoma (BL), in which t (8; 14) (q24; q32) or its variants are related to the myelocytomatosis oncogene (MYC) rearrangement (MYCr) is usually present. However, BAL with lysine methyltransferase 2A (KMT2A, previously called Mixed lineage leukaemia, MLL) gene rearrangement (KMT2Ar, previously called MLLr) is rare.Results: Three BAL patients with KMT2Ar were enrolled between January 2017 and November 2019, accounting for 1.37% of the B-ALL population in our hospital. We also reviewed 24 previously reported cases of BAL and KMT2Ar and analysed the features, treatment, and prognosis. Total 13 males and 14 females were enrolled in our research, and the average age at diagnosis was 19.5 ± 4.95 months old. In these 27 patients, renal, central nervous system (CNS) and skin involvement were existent in 6, 4 and 3 patients, respectively; 26 patients (26/27) showed non-ALL-L3 morphology, while one patient is ALL-L3; overexpression of CD19 was detected in most cases, negative or suspicious expression of CD20 was found in 64% of patients. KMT2Ar was reported, but MYCr was not observed. 25 patients (25/27) achieved complete remission after chemotherapy or Stem cell transplantation. The patients were sensitive to chemotherapy, prospective event-free survival (pEFS) of BAL patients with KMT2Ar who received allogeneic haematopoietic stem cell transplantation (allo-HSCT) was higher than that in patients who received chemotherapy alone (83.33% vs 41.91%).Conclusion: BAL patients with KMT2Ar had unique manifestations, including younger age at diagnosis and overexpression of CD19; expression of CD20 was rare, and MYCr was undetectable. The pEFS was higher in patients undergoing allo-HSCT than in patients undergoing chemotherapy alone.
      pubtype: Academic Journal
      doctype:
        research
        Journal Article
      ougenre: Article
    language: English
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