PMID- 35560245
OWN - NLM
STAT- MEDLINE
DCOM- 20220615
LR  - 20220808
IS  - 1096-8652 (Electronic)
IS  - 0361-8609 (Linking)
VI  - 97
IP  - 7
DP  - 2022 Jul
TI  - Optical genome mapping for structural variation analysis in hematologic 
      malignancies.
PG  - 975-982
LID - 10.1002/ajh.26587 [doi]
AB  - Optical genome mapping (OGM) is a technology that is rapidly being adopted in 
      clinical genetics laboratories for its ability to detect structural variation 
      (e.g., translocations, inversions, deletions, duplications, etc.) and replace 
      several concurrent standard of care techniques (karyotype, fluorescence in situ 
      hybridization, and chromosomal microarray). OGM can dramatically simplify lab 
      workflow by reducing multiple tests (conventional karyotype, fluorescence in situ 
      hybridization [FISH], and chromosomal microarray) into one test. The superior 
      ability to detect structural variation across the genome removes the need for 
      reflex FISH studies, which can dramatically reduce cost and turnaround time per 
      sample. Parallel studies of OGM versus standard of care testing have demonstrated 
      it can detect and resolve more abnormalities than karyotyping or FISH. However, 
      like many molecular tests that normalize copy number it can have difficulty with 
      non-diploid karyotypes. This Test of the Month review will summarize how the 
      technique works, review the strengths and weaknesses of OGM compared to standard 
      of care techniques and illustrate how the technique is likely to change front 
      line testing in many hematologic malignancies-including summarizing the clinical 
      utility in acute myeloid leukemia, myelodysplastic syndromes, and B cell acute 
      lymphoblastic leukemia.
CI  - (c) 2022 Wiley Periodicals LLC.
FAU - Smith, Adam C
AU  - Smith AC
AUID- ORCID: 0000-0001-9927-4914
AD  - Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.
AD  - The Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, 
      University of Toronto, Toronto, Ontario, Canada.
FAU - Neveling, Kornelia
AU  - Neveling K
AD  - Department of Human Genetics, Radboud University Medical Center, Nijmegen, the 
      Netherlands.
FAU - Kanagal-Shamanna, Rashmi
AU  - Kanagal-Shamanna R
AUID- ORCID: 0000-0001-7829-5249
AD  - Department of Hematopathology and Molecular Diagnostics, The University of Texas 
      MD Anderson Cancer Center, Houston, Texas, USA.
LA  - eng
PT  - Journal Article
DEP - 20220520
PL  - United States
TA  - Am J Hematol
JT  - American journal of hematology
JID - 7610369
SB  - IM
MH  - Chromosome Aberrations
MH  - Chromosome Mapping
MH  - *Hematologic Neoplasms/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Karyotyping
MH  - *Myelodysplastic Syndromes/genetics
EDAT- 2022/05/14 06:00
MHDA- 2022/06/16 06:00
CRDT- 2022/05/13 18:53
PHST- 2022/04/26 00:00 [revised]
PHST- 2022/02/17 00:00 [received]
PHST- 2022/04/28 00:00 [accepted]
PHST- 2022/05/14 06:00 [pubmed]
PHST- 2022/06/16 06:00 [medline]
PHST- 2022/05/13 18:53 [entrez]
AID - 10.1002/ajh.26587 [doi]
PST - ppublish
SO  - Am J Hematol. 2022 Jul;97(7):975-982. doi: 10.1002/ajh.26587. Epub 2022 May 20.