PMID- 31112375
OWN - NLM
STAT- MEDLINE
DCOM- 20191210
LR  - 20191217
IS  - 1751-553X (Electronic)
IS  - 1751-5521 (Linking)
VI  - 41
IP  - 4
DP  - 2019 Aug
TI  - Chromosomal microarray analysis is superior in identifying cryptic aberrations in 
      patients with acute lymphoblastic leukemia at diagnosis/relapse as a single 
      assay.
PG  - 561-571
LID - 10.1111/ijlh.13052 [doi]
AB  - INTRODUCTION: Conventional cytogenetics (CC) is important in diagnosis, therapy, 
      monitoring of post-transplant bone marrow, and prognosis assessment of acute 
      lymphoblastic leukemia (ALL). However, due to the nature of ALL, CC often 
      encounters difficulties of complex karyotype, poor chromosome morphology, low 
      mitotic index, or normal cells dividing only. In contrast, chromosomal microarray 
      analysis (CMA) showed a specificity >99% and a sensitivity of 100% in chronic 
      lymphocytic leukemia (CLL) patients. Here, we report our experience with CMA on 
      adult ALL patients. METHODS: Thirty-three bone marrow/blood samples from ALL 
      patients (aged 18-79 years, median 44) at diagnosis/relapse, analyzed by CC 
      and/or fluorescence in situ hybridization (FISH), were recruited. Chromosomal 
      microarray analysis results were compared with CC. Fluorescence in situ 
      hybridization analysis, if available, was applied when there was a discrepancy. 
      RESULTS: Copy-neutral loss-of-heterozygosity (CN-LOH) was found in 8 cases 
      (24.2%). Only CN-LOH at 9p was recurrent (3 cases, 9.1%). Copy number alterations 
      (CNAs) were detected in 6 of 9 cases (66.7%) with normal karyotypes, in 3 of 5 
      cases (60.0%) with sole "balanced" translocations, and in 18 of 19 cases (94.7%) 
      with complex karyotypes. Common CNAs involved CDKN2A/2B (30.3%), IKZF1 (27.3%), 
      PAX5 (9.1%), RB1 (9.1%), BTG1 (6.7%), and ETV6 (6.7%), which regulate cell cycle, 
      B lymphopoiesis, or act as tumor suppressors in ALL. Copy number alteration 
      detection rate by CMA was 81.8% (27 of 33 cases) as compared to 57.6% (19 of 33 
      cases) by CC. CONCLUSION: Incorporation of CMA as a routine clinical test at the 
      time of diagnosis/relapse, in conjunction with CC and/or FISH, is highly 
      recommended.
CI  - (c) 2019 John Wiley & Sons Ltd.
FAU - Chen, Chuanfei
AU  - Chen C
AUID- ORCID: 0000-0002-8570-8467
AD  - Cytogenetics Laboratory, Department of Molecular Pathology, Division of 
      Pathology, Singapore General Hospital, Singapore, Singapore.
FAU - Heng, Evelyn Yee Hsieh
AU  - Heng EYH
AD  - Cytogenetics Laboratory, Department of Molecular Pathology, Division of 
      Pathology, Singapore General Hospital, Singapore, Singapore.
FAU - Lim, Alvin Soon Tiong
AU  - Lim AST
AD  - Cytogenetics Laboratory, Department of Molecular Pathology, Division of 
      Pathology, Singapore General Hospital, Singapore, Singapore.
FAU - Lau, Lai Ching
AU  - Lau LC
AD  - Cytogenetics Laboratory, Department of Molecular Pathology, Division of 
      Pathology, Singapore General Hospital, Singapore, Singapore.
FAU - Lim, Tse Hui
AU  - Lim TH
AD  - Cytogenetics Laboratory, Department of Molecular Pathology, Division of 
      Pathology, Singapore General Hospital, Singapore, Singapore.
FAU - Wong, Gee Chuan
AU  - Wong GC
AD  - Department of Haematology, Singapore General Hospital, Singapore, Singapore.
FAU - Tien, Sim Leng
AU  - Tien SL
AD  - Cytogenetics Laboratory, Department of Molecular Pathology, Division of 
      Pathology, Singapore General Hospital, Singapore, Singapore.
AD  - Department of Haematology, Singapore General Hospital, Singapore, Singapore.
LA  - eng
GR  - 1191100/CFO/CFO Fund/
PT  - Journal Article
DEP - 20190521
PL  - England
TA  - Int J Lab Hematol
JT  - International journal of laboratory hematology
JID - 101300213
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - *Chromosome Aberrations
MH  - *DNA Copy Number Variations
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis/genetics/pathology
MH  - *Loss of Heterozygosity
MH  - Male
MH  - Middle Aged
MH  - *Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis/genetics/pathology
MH  - Recurrence
OTO - NOTNLM
OT  - a single assay
OT  - acute lymphoblastic leukemia
OT  - cryptic aberrations
OT  - microarray
OT  - routine
EDAT- 2019/05/22 06:00
MHDA- 2019/12/18 06:00
CRDT- 2019/05/22 06:00
PHST- 2019/03/10 00:00 [received]
PHST- 2019/04/23 00:00 [revised]
PHST- 2019/04/27 00:00 [accepted]
PHST- 2019/05/22 06:00 [pubmed]
PHST- 2019/12/18 06:00 [medline]
PHST- 2019/05/22 06:00 [entrez]
AID - 10.1111/ijlh.13052 [doi]
PST - ppublish
SO  - Int J Lab Hematol. 2019 Aug;41(4):561-571. doi: 10.1111/ijlh.13052. Epub 2019 May 
      21.