PMID- 26351594
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20150909
LR  - 20201001
IS  - 2090-6560 (Print)
IS  - 2090-6579 (Electronic)
IS  - 2090-6579 (Linking)
VI  - 2015
DP  - 2015
TI  - Promyelocytic Leukemia with No Retinoic Acid Receptor Alpha Abnormality but with 
      RUNX1T1 Insertion to Chromosome 7q: A Classification and Management Dilemma.
PG  - 412016
LID - 10.1155/2015/412016 [doi]
LID - 412016
AB  - A case of acute promyelocytic leukemia (APL) with RUNX1T1 insertion to 7q is 
      described and compared to reported cases of APL with negative retinoic acid 
      receptor alpha (RARA) abnormality. In this report, we describe the case of a 
      2-year-old boy who presented with bone pain and was found to have pancytopenia. 
      Bone marrow examination showed morphologic and immunophenotypic findings typical 
      of APL, but conventional cytogenetics, fluorescence in situ hybridization (FISH), 
      and real-time polymerase chain reaction (RT-PCR) showed no evidence of RARA 
      rearrangements. The only cytogenetic abnormality found was a small insertion in 
      7q, and three copies of RUNX1T1. Gene sequencing results became available after 
      initiating therapy but were not informative. We describe the rarity of such cases 
      and discuss how the typical morphologic and immunophenotypic findings of APL, 
      coupled with the definite absence of RARA rearrangement (by FISH and RT-PCR), 
      present a diagnostic and classification dilemma, raising the possibility of an 
      unknown alternative mechanism for the leukemogenesis and maturation arrest seen 
      in other APL variants. The diagnostic challenges and urgent management issues 
      this unusual case raises may justify including it, along with similar cases, in a 
      separate subtype of acute myeloid leukemia (AML) in future classifications.
FAU - Overholt, Kathleen
AU  - Overholt K
AD  - Hematology/Oncology and Blood and Marrow Transplant, Nationwide Children's 
      Hospital, Columbus, OH 43205, USA.
FAU - Guinipero, Terri L
AU  - Guinipero TL
AD  - Hematology/Oncology and Blood and Marrow Transplant, Nationwide Children's 
      Hospital, Columbus, OH 43205, USA.
FAU - Heerema, Nyla A
AU  - Heerema NA
AD  - Department of Pathology, The Ohio State University, Columbus, OH 43210, USA.
FAU - Loken, Michael R
AU  - Loken MR
AD  - Hematologics, Inc., Seattle, WA 98121, USA.
FAU - Kahwash, Samir B
AU  - Kahwash SB
AD  - Department of Pathology, The Ohio State University, Columbus, OH 43210, USA ; 
      Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, 
      Columbus, OH 43205, USA.
LA  - eng
PT  - Journal Article
DEP - 20150817
PL  - United States
TA  - Case Rep Hematol
JT  - Case reports in hematology
JID - 101576456
PMC - PMC4553303
EDAT- 2015/09/10 06:00
MHDA- 2015/09/10 06:01
PMCR- 2015/08/17
CRDT- 2015/09/10 06:00
PHST- 2015/06/12 00:00 [received]
PHST- 2015/08/03 00:00 [accepted]
PHST- 2015/09/10 06:00 [entrez]
PHST- 2015/09/10 06:00 [pubmed]
PHST- 2015/09/10 06:01 [medline]
PHST- 2015/08/17 00:00 [pmc-release]
AID - 10.1155/2015/412016 [doi]
PST - ppublish
SO  - Case Rep Hematol. 2015;2015:412016. doi: 10.1155/2015/412016. Epub 2015 Aug 17.