PMID- 35064925
OWN - NLM
STAT- MEDLINE
DCOM- 20220419
LR  - 20220506
IS  - 1097-0215 (Electronic)
IS  - 0020-7136 (Linking)
VI  - 150
IP  - 12
DP  - 2022 Jun 15
TI  - Optical genome mapping reveals additional prognostic information compared to 
      conventional cytogenetics in AML/MDS patients.
PG  - 1998-2011
LID - 10.1002/ijc.33942 [doi]
AB  - Cytogenetic diagnostics play a crucial role in risk stratification and 
      classification of myeloid malignancies such as acute myeloid leukemia (AML) and 
      myelodysplastic syndrome (MDS), thus influencing treatment decisions. Optical 
      genome mapping (OGM) is a novel whole genome method for the detection of 
      cytogenetic abnormalities. Our study assessed the applicability and practicality 
      of OGM as diagnostic tool in AML and MDS patients. In total, 27 patients with AML 
      or MDS underwent routine diagnostics including classical karyotyping and 
      fluorescence in situ hybridization (FISH) or real-time PCR analysis wherever 
      indicated as well as OGM following a recently established workflow. Methods were 
      compared regarding concordance and content of information. In 93%, OGM was 
      concordant to classical karyotyping and a total of 61 additional variants in a 
      predefined myeloid gene-set could be detected. In 67% of samples the karyotype 
      could be redefined by OGM. OGM offers a whole genome approach to cytogenetic 
      diagnostics in AML and MDS with a high concordance to classical cytogenetics. The 
      method has the potential to enter routine diagnostics as a gold standard for 
      cytogenetic diagnostics widely superseding FISH. Furthermore, OGM can serve as a 
      tool to identify genetic regions of interest and future research regarding tumor 
      biology.
CI  - (c) 2022 The Authors. International Journal of Cancer published by John Wiley & 
      Sons Ltd on behalf of UICC.
FAU - Gerding, Wanda M
AU  - Gerding WM
AUID- ORCID: 0000-0002-3858-9872
AD  - Department for Human Genetics, Ruhr-University Bochum, Bochum, Germany.
FAU - Tembrink, Marco
AU  - Tembrink M
AUID- ORCID: 0000-0002-2789-4273
AD  - Department for Human Genetics, Ruhr-University Bochum, Bochum, Germany.
FAU - Nilius-Eliliwi, Verena
AU  - Nilius-Eliliwi V
AUID- ORCID: 0000-0001-9698-1779
AD  - Department for Human Genetics, Ruhr-University Bochum, Bochum, Germany.
AD  - Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, 
      Ruhr-University Bochum, Bochum, Germany.
FAU - Mika, Thomas
AU  - Mika T
AUID- ORCID: 0000-0003-3790-5826
AD  - Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, 
      Ruhr-University Bochum, Bochum, Germany.
FAU - Dimopoulos, Fotios
AU  - Dimopoulos F
AD  - Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, 
      Ruhr-University Bochum, Bochum, Germany.
FAU - Ladigan-Badura, Swetlana
AU  - Ladigan-Badura S
AD  - Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, 
      Ruhr-University Bochum, Bochum, Germany.
FAU - Eckhardt, Matthias
AU  - Eckhardt M
AD  - Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, 
      Ruhr-University Bochum, Bochum, Germany.
FAU - Pohl, Michael
AU  - Pohl M
AD  - Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, 
      Ruhr-University Bochum, Bochum, Germany.
FAU - Wunnenberg, Max
AU  - Wunnenberg M
AD  - Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, 
      Ruhr-University Bochum, Bochum, Germany.
FAU - Farshi, Pakhshan
AU  - Farshi P
AD  - Department of Hematology and Oncology, Kliniken Essen-Mitte, Essen, Germany.
FAU - Reimer, Peter
AU  - Reimer P
AD  - Department of Hematology and Oncology, Kliniken Essen-Mitte, Essen, Germany.
FAU - Schroers, Roland
AU  - Schroers R
AD  - Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, 
      Ruhr-University Bochum, Bochum, Germany.
FAU - Nguyen, Huu Phuc
AU  - Nguyen HP
AUID- ORCID: 0000-0001-6139-788X
AD  - Department for Human Genetics, Ruhr-University Bochum, Bochum, Germany.
FAU - Vangala, Deepak B
AU  - Vangala DB
AUID- ORCID: 0000-0002-4175-5683
AD  - Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, 
      Ruhr-University Bochum, Bochum, Germany.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20220207
PL  - United States
TA  - Int J Cancer
JT  - International journal of cancer
JID - 0042124
SB  - IM
MH  - Chromosome Mapping/methods
MH  - Cytogenetic Analysis/methods
MH  - Cytogenetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - *Leukemia, Myeloid, Acute/diagnosis/genetics
MH  - *Myelodysplastic Syndromes/diagnosis/genetics
MH  - Prognosis
OTO - NOTNLM
OT  - acute myeloid leukemia
OT  - human genetic diagnostics
OT  - myelodysplastic syndrome
OT  - optical genome mapping
EDAT- 2022/01/23 06:00
MHDA- 2022/04/20 06:00
CRDT- 2022/01/22 12:06
PHST- 2021/12/27 00:00 [revised]
PHST- 2021/10/27 00:00 [received]
PHST- 2022/01/13 00:00 [accepted]
PHST- 2022/01/23 06:00 [pubmed]
PHST- 2022/04/20 06:00 [medline]
PHST- 2022/01/22 12:06 [entrez]
AID - 10.1002/ijc.33942 [doi]
PST - ppublish
SO  - Int J Cancer. 2022 Jun 15;150(12):1998-2011. doi: 10.1002/ijc.33942. Epub 2022 
      Feb 7.