PMID- 36672788
OWN - NLM
STAT- MEDLINE
DCOM- 20230124
LR  - 20230201
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 14
IP  - 1
DP  - 2022 Dec 23
TI  - Acute Promyelocytic Leukemia with Rare Genetic Aberrations: A Report of Three 
      Cases.
LID - 10.3390/genes14010046 [doi]
LID - 46
AB  - Acute promyelocytic leukemia (APL) is a unique subtype of acute myeloid leukemia 
      (AML) that is characterized by the PML::RARA fusion or, more rarely, a variant 
      RARA translocation. While APL can be clinically suspected, diagnosis of APL 
      requires genetic confirmation. Targeted therapy such as all-trans-retinoic acid 
      (ATRA) and arsenic trioxide (ATO) has dramatically improved the prognosis of APL 
      patients, but this is dependent on timely genetic testing as different fusions 
      and/or mutations can affect therapeutic outcomes. Here we report three APL cases 
      with various genetic aberrations: cryptic PML::RARA fusion, variant RARA 
      rearrangement, and typical PML::RARA fusion with co-existing FLT3-ITD mutation. 
      They serve to illustrate the utility of integrating genetic testing, using 
      chromosome analysis, fluorescence in situ hybridization (FISH), reverse 
      transcriptase-polymerase chain reaction (RT-PCR), and next-generation sequencing 
      (NGS) in providing a detailed understanding of the genetic alterations underlying 
      each patient's disease.
FAU - Liu, Guang
AU  - Liu G
AD  - Genetics/Genomics Division, Sonora Quest Laboratories, University of Arizona 
      College of Medicine, Phoenix, AZ 85034, USA.
FAU - Liu, Lanting
AU  - Liu L
AD  - AmeriPath Indiana, Indianapolis, IN 46219, USA.
FAU - Bartolo, Daniel Di
AU  - Bartolo DD
AD  - AmeriPath Northeast, Shelton, CT 06484, USA.
FAU - Li, Katie Y
AU  - Li KY
AD  - Boston University School of Medicine and Boston Medical Center, Boston, MA 02118, 
      USA.
FAU - Li, Xia
AU  - Li X
AUID- ORCID: 0000-0002-4992-8446
AD  - Department of Pathology, University of Arizona College of Medicine, Sonora Quest 
      Laboratories, Phoenix, AZ 85034, USA.
LA  - eng
PT  - Case Reports
DEP - 20221223
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
RN  - 5688UTC01R (Tretinoin)
RN  - S7V92P67HO (Arsenic Trioxide)
SB  - IM
MH  - Humans
MH  - *Leukemia, Promyelocytic, Acute/drug therapy/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Tretinoin/therapeutic use
MH  - Arsenic Trioxide/therapeutic use
MH  - *Leukemia, Myeloid, Acute/drug therapy
PMC - PMC9858271
OTO - NOTNLM
OT  - FISH
OT  - FLT3-ITD
OT  - NGS
OT  - PML::RARA
OT  - acute promyelocytic leukemia
OT  - chromosome analysis
OT  - variant RARA rearrangement
COIS- All authors have declared no conflict of interest.
EDAT- 2023/01/22 06:00
MHDA- 2023/01/25 06:00
PMCR- 2022/12/23
CRDT- 2023/01/21 01:14
PHST- 2022/11/30 00:00 [received]
PHST- 2022/12/12 00:00 [revised]
PHST- 2022/12/20 00:00 [accepted]
PHST- 2023/01/21 01:14 [entrez]
PHST- 2023/01/22 06:00 [pubmed]
PHST- 2023/01/25 06:00 [medline]
PHST- 2022/12/23 00:00 [pmc-release]
AID - genes14010046 [pii]
AID - genes-14-00046 [pii]
AID - 10.3390/genes14010046 [doi]
PST - epublish
SO  - Genes (Basel). 2022 Dec 23;14(1):46. doi: 10.3390/genes14010046.