PMID- 33205680
OWN - NLM
STAT- MEDLINE
DCOM- 20211025
LR  - 20211025
IS  - 1549-781X (Electronic)
IS  - 1040-8363 (Linking)
VI  - 58
IP  - 3
DP  - 2021 May
TI  - Cytogenetic and molecular genetic methods for chromosomal translocations 
      detection with reference to the KMT2A/MLL gene.
PG  - 180-206
LID - 10.1080/10408363.2020.1844135 [doi]
AB  - Acute leukemias (ALs) are often associated with chromosomal translocations, in 
      particular, KMT2A/MLL gene rearrangements. Identification or confirmation of 
      these translocations is carried out by a number of genetic and molecular methods, 
      some of which are routinely used in clinical practice, while others are primarily 
      used for research purposes. In the clinic, these methods serve to clarify 
      diagnoses and monitor the course of disease and therapy. On the other hand, the 
      identification of new translocations and the confirmation of known translocations 
      are of key importance in the study of disease mechanisms and further molecular 
      classification. There are multiple methods for the detection of rearrangements 
      that differ in their principle of operation, the type of problem being solved, 
      and the cost-result ratio. This review is intended to help researchers and 
      clinicians studying AL and related chromosomal translocations to navigate this 
      variety of methods. All methods considered in the review are grouped by their 
      principle of action and include karyotyping, fluorescence in situ hybridization 
      (FISH) with probes for whole chromosomes or individual loci, PCR and reverse 
      transcription-based methods, and high-throughput sequencing. Another 
      characteristic of the described methods is the type of problem being solved. This 
      can be the discovery of new rearrangements, the determination of unknown partner 
      genes participating in the rearrangement, or the confirmation of the proposed 
      rearrangement between the two genes. We consider the specifics of the 
      application, the basic principle of each method, and its pros and cons. To 
      illustrate the application, examples of studying the rearrangements of the 
      KMT2A/MLL gene, one of the genes that are often rearranged in AL, are mentioned.
FAU - Lomov, Nikolai
AU  - Lomov N
AUID- ORCID: 0000-0003-2101-3479
AD  - Department of Molecular Biology, Faculty of Biology, M.V. Lomonosov Moscow State 
      University, Moscow, Russia.
FAU - Zerkalenkova, Elena
AU  - Zerkalenkova E
AUID- ORCID: 0000-0001-9634-5828
AD  - Laboratory of Cytogenetics and Molecular Genetics Dmitry Rogachev National 
      Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 
      Russia.
FAU - Lebedeva, Svetlana
AU  - Lebedeva S
AD  - Laboratory of Cytogenetics and Molecular Genetics Dmitry Rogachev National 
      Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 
      Russia.
FAU - Viushkov, Vladimir
AU  - Viushkov V
AD  - Department of Molecular Biology, Faculty of Biology, M.V. Lomonosov Moscow State 
      University, Moscow, Russia.
FAU - Rubtsov, Mikhail A
AU  - Rubtsov MA
AUID- ORCID: 0000-0003-4947-1009
AD  - Department of Molecular Biology, Faculty of Biology, M.V. Lomonosov Moscow State 
      University, Moscow, Russia.
AD  - Department of Biochemistry, Institute for Translational Medicine and 
      Biotechnology, Sechenov First Moscow State Medical University (Sechenov 
      University), Moscow, Russia.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20201118
PL  - England
TA  - Crit Rev Clin Lab Sci
JT  - Critical reviews in clinical laboratory sciences
JID - 8914816
RN  - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein)
RN  - EC 2.1.1.43 (Histone-Lysine N-Methyltransferase)
SB  - IM
MH  - Histone-Lysine N-Methyltransferase/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Molecular Biology
MH  - *Myeloid-Lymphoid Leukemia Protein/genetics
MH  - *Translocation, Genetic/genetics
OTO - NOTNLM
OT  - Acute leukemia
OT  - KMT2A/MLL
OT  - MRD monitoring
OT  - chromosomal translocations detection
OT  - cytogenetics
EDAT- 2020/11/19 06:00
MHDA- 2021/10/26 06:00
CRDT- 2020/11/18 08:36
PHST- 2020/11/19 06:00 [pubmed]
PHST- 2021/10/26 06:00 [medline]
PHST- 2020/11/18 08:36 [entrez]
AID - 10.1080/10408363.2020.1844135 [doi]
PST - ppublish
SO  - Crit Rev Clin Lab Sci. 2021 May;58(3):180-206. doi: 
      10.1080/10408363.2020.1844135. Epub 2020 Nov 18.