PMID- 25699572
OWN - NLM
STAT- MEDLINE
DCOM- 20150629
LR  - 20220331
IS  - 1551-5044 (Electronic)
IS  - 0022-1554 (Print)
IS  - 0022-1554 (Linking)
VI  - 63
IP  - 5
DP  - 2015 May
TI  - Novel Cryptic Rearrangements in Adult B-Cell Precursor Acute Lymphoblastic 
      Leukemia Involving the MLL Gene.
PG  - 384-90
LID - 10.1369/0022155415576201 [doi]
AB  - MLL (mixed-lineage-leukemia) gene rearrangements are typical for acute leukemia 
      and are associated with an aggressive course of disease, with a worse outcome 
      than comparable case, and thus require intensified treatment. Here we describe a 
      69-year-old female with adult B cell precursor acute lymphoblastic leukemia 
      (BCP-ALL) with hyperleukocytosis and immunophenotype CD10- and CD19+ with cryptic 
      MLL rearrangements. G-banding at the time of diagnosis showed a normal karyotype: 
      46,XX. Molecular cytogenetics using multitude multicolor banding (mMCB) revealed 
      a complex rearrangement of the two copies of chromosome 11. However, a 
      locus-specific probe additionally identified that the MLL gene at 11q23.3 was 
      disrupted, and that the 5' region was inserted into the chromosomal sub-band 
      4q21; thus the aberration involved three chromosomes and five break events. 
      Unfortunately, the patient died six months after the initial diagnosis from 
      serious infections and severe complications. Overall, the present findings 
      confirm that, by far not all MLL aberrations are seen by routine chromosome 
      banding techniques and that fluorescence in situ hybridization (FISH) should be 
      regarded as standard tool to access MLL rearrangements in patients with BCP-ALL.
CI  - (c) The Author(s) 2015.
FAU - Othman, Moneeb A K
AU  - Othman MA
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Jena, Germany (MAKO, MR, KR, TL)
FAU - Grygalewicz, Beata
AU  - Grygalewicz B
AD  - Cytogenetic Laboratory, Maria Sklodowska-Curie Memorial Cancer Centre and 
      Institute, Warsaw, Poland (BG)
FAU - Pienkowska-Grela, Barbara
AU  - Pienkowska-Grela B
AD  - Department of Hematology, Institute of Hematology and Transfusion Medicine, 
      Warsaw, Poland (BPG)
FAU - Rincic, Martina
AU  - Rincic M
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Jena, Germany (MAKO, MR, KR, TL)
AD  - Croatian Institute of Brain Research, Zagreb, Croatia (MR)
FAU - Rittscher, Katharina
AU  - Rittscher K
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Jena, Germany (MAKO, MR, KR, TL)
FAU - Melo, Joana B
AU  - Melo JB
AD  - Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of 
      Coimbra, Coimbra, Portugal (JBM, IMC)
AD  - CIMAGO, Centro de Investigacao em Meio Ambiente, Geneticae Oncobiologia 
      University of Coimbra, (JBM, IMC)
FAU - Carreira, Isabel M
AU  - Carreira IM
AD  - Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of 
      Coimbra, Coimbra, Portugal (JBM, IMC)
AD  - CIMAGO, Centro de Investigacao em Meio Ambiente, Geneticae Oncobiologia 
      University of Coimbra, (JBM, IMC)
FAU - Meyer, Britta
AU  - Meyer B
AD  - ZytoVision GmbH, Bremerhaven, Germany (BM)
FAU - Marzena, Watek
AU  - Marzena W
AD  - Department of Haematology and Bone Marrow Transplantation, Holy Cross Cancer 
      Center, Kielce, Poland (WM)
FAU - Liehr, Thomas
AU  - Liehr T
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Jena, Germany (MAKO, MR, KR, TL)
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150219
PL  - United States
TA  - J Histochem Cytochem
JT  - The journal of histochemistry and cytochemistry : official journal of the 
      Histochemistry Society
JID - 9815334
RN  - 0 (KMT2A protein, human)
RN  - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein)
RN  - EC 2.1.1.43 (Histone-Lysine N-Methyltransferase)
SB  - IM
MH  - Acute Disease
MH  - Aged
MH  - Chromosomes, Human, Pair 11/genetics
MH  - Fatal Outcome
MH  - Gene Rearrangement
MH  - Histone-Lysine N-Methyltransferase
MH  - Humans
MH  - Myeloid-Lymphoid Leukemia Protein/*genetics
MH  - Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics/*pathology
MH  - Translocation, Genetic
PMC - PMC4409947
OTO - NOTNLM
OT  - B-cell precursor acute lymphoblastic leukemia
OT  - MLL
OT  - array-comparative genomic hybridization
OT  - cryptic rearrangements
OT  - fluorescence in situ hybridization
OT  - mixed-lineage-leukemia gene
COIS- Declaration of Conflicting Interests: The authors declared no potential conflicts 
      of interest with respect to the research, authorship, and/or publication of this 
      article.
EDAT- 2015/02/24 06:00
MHDA- 2015/06/30 06:00
PMCR- 2016/05/01
CRDT- 2015/02/21 06:00
PHST- 2014/11/17 00:00 [received]
PHST- 2015/02/05 00:00 [accepted]
PHST- 2015/02/21 06:00 [entrez]
PHST- 2015/02/24 06:00 [pubmed]
PHST- 2015/06/30 06:00 [medline]
PHST- 2016/05/01 00:00 [pmc-release]
AID - 0022155415576201 [pii]
AID - 10.1369_0022155415576201 [pii]
AID - 10.1369/0022155415576201 [doi]
PST - ppublish
SO  - J Histochem Cytochem. 2015 May;63(5):384-90. doi: 10.1369/0022155415576201. Epub 
      2015 Feb 19.