title: Acute leukaemia and myelodysplastic syndromes with chromosomal rearrangement involving 11q23 locus, but notMLLgene.
abstract: OBJECTIVE
  Chromosome 11q23 translocations, resulting inMLL (KMT2A) rearrangement, have been well characterised in acute myeloid leukaemia (AML) and acute lymphoblastic leukaemia (ALL). However, little is known of haematopoietic neoplasms associated with 11q23 translocation but withoutMLLrearrangement (11q23+/MLL-). The aim of this study is to characterise such cases with 11q23+/MLL-.
  
  
  RESULTS
  We retrospectively searched our database for cases with haematopoietic malignancies with 11q23+/MLL-. We identified nine patients, two with AML, two with B-lymphoblastic leukaemia (B-ALL); two with T-lymphoblastic leukaemia (T-ALL), two with myelodysplastic syndrome (MDS) and one with chronic myelomonocytic leukaemia (CMML). The translocations included t(X;11)(p11.2;q23), t(2;11)(p21;q23), t(6;11)(q27;q23), t(8;9;11)(q13;q13;q23), t(11;11)(p15;q23), t(11;14)(q23;q24) and t(11;15)(q23;q14). Five of six patients with acute leukaemia had received chemotherapy and detection of 11q23 translocation occurred at time of disease relapse. Both patients with MDS and the patient with CMML had 11q23 translocation detected at time of initial diagnosis, all three patients progressed to AML after >1 year on hypomethylating agent therapy. All patients received risk-adapted therapies, including stem cell transplant in five patients. At the last follow-up, eight patients died with a median overall survival of 14 months.
  
  
  CONCLUSIONS
  11q23+/MLL- occurs rarely, involving different partner chromosomes and showing clinical and pathological features and disease subtypes different from those cases withMLLrearrangement. 11q23+/MLL- appears to be associated with clonal evolution/disease progression in acute leukaemia, a high risk for AML progression in MDS/CMML and a high incidence of disease relapse.
authors: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.|Department of Hematology, Zhengzhou University Affiliated Cancer Hospital/Henan Cancer Hospital, Zhengzhou, Henan, China.
authors: Wenli
authors: W
authors: Zuo
authors: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
authors: Sa A
authors: SA
authors: Wang
authors: Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
authors: Courtney
authors: C
authors: DiNardo
authors: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
authors: Mariko
authors: M
authors: Yabe
authors: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
authors: Shaoying
authors: S
authors: Li
authors: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
authors: L Jeffrey
authors: LJ
authors: Medeiros
authors: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
authors: Guilin
authors: G
authors: Tang
mesh_terms: D000328:Adult; D000368:Aged; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D005260:Female; D005434:Flow Cytometry; D015321:Gene Rearrangement; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007938:Leukemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics; D012189:Retrospective Studies
chemical_list: C497422:KMT2A protein, human; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase
keywords: CYTOGENETICS; HAEMATOPATHOLOGY; LEUKAEMIA; MYELODYSPLASIA